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News at a Glance

See articles regarding Gaucher disease and other rare diseases, health and nutrition, science and technology, Gaucher studies and more.

 

Gaucher Disease Study

Feb 8, 2016 - Category: Gaucher News

Palo Alto University graduate student Andrea Alioto, M.S., is directing her Ph.D. dissertation research, under Dr. Wendy Packman, J.D., Ph.D., towards better understanding the impact of living with a chronic illness upon children and young adults and their families. [...]

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Rare Disease Day 2016

Feb 4, 2016 - Rare And Orphan Disease News

Rare Disease Day 2016Rare Disease Day takes place worldwide on the last day in February to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Each year, NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of this global observance. [...]

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Lindsay Zuckerman Dance-A-Thon

Feb 4, 2016 - Category: Gaucher News

Twelve year old Lindsay Zuckerman, who has Gaucher disease, was determined to raise awareness of Gaucher disease Type 1 as well as funds to support the National Gaucher Foundation all while incorporating her love of dance and celebrating life. [...]

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Lindsay plans danceathon in Montville Twp. to fight Gaucher disease

Jan 21, 2016 - Category: Gaucher News

Montville resident Lindsay Zuckerman is on a mission to reach out to others in the hopes of finding a cure for Type 1 Gaucher disease. At the age of 2, Lindsay, who is now 12, was diagnosed with this disease. Lindsay said that doctors ordered blood tests on her because her parents are known carriers of the disease. [...]

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CARING FOR OUR GAUCHER COMMUNITY

Jan 13, 2016 - Category: Gaucher News

Has anyone heard of the CARE Program? This Program is offered by the National Gaucher Foundation and has been in existence for over 20 years. It helps individuals and their families with Gaucher Disease pay for insurance premiums. More and more individuals have access to health insurance today. [...]

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Drugmaker Shire to buy Baxalta for $32 billion after six-month pursuit

Jan 11, 2016 - Rare And Orphan Disease News

Drugmaker Shire to buy Baxalta for $32 billion after six-month pursuitDrugmaker Shire Plc clinched its six-month pursuit of Baxalta International Inc. on Monday with an agreed $32 billion cash and stock offer, catapulting it to a leading position in treating rare diseases. The London-listed group, which first approached the U.S. company with an all-stock offer in July, won over the maker of treatments for rare blood conditions. [...]

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Montville 7th Grader Organizing Dance-A-Thon Fundraiser for the National Gaucher Foundation

Jan 11, 2016 - Category: Gaucher News

Montville 7th Grader Organizing Dance-A-Thon Fundraiser for the National Gaucher FoundationZuckerman has Type 1 Gaucher disease and is hoping for the support of the Montville Community for this event. According to the NGF website, Gaucher disease is the most prevalent Lysosomal Storage Disorder in the world and although Gaucher disease can affect anyone, Gaucher disease type 1 is the most common inherited Jewish genetic disease. [...]

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FDA Approves Record Number of Rare Disease Drugs

Jan 8, 2016 - Category: Rare And Orphan Disease News

FDA Approves Record Number of Rare Disease Drugs Read more: FDA OKs Record Number of Rare Disease DrugsThe National Organization for Rare Disorders (NORD), an independent nonprofit organization representing patients and families affected by rare diseases, reports that the FDA approved 21 new "orphan" drugs to treat rare diseases in 2015 — 47 percent of all novel new drugs approved for the year. [...]

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Sanofi Genzyme Announces Recipients of Patient Advocacy Leadership (PAL) Awards

Jan 6, 2016 - Category: Gaucher News

Sanofi Genzyme, the specialty care global business unit of Sanofi, today announced the recipients of the fifth annual Patient Advocacy Leadership (PAL) awards. The global grant program supports projects by non-profit organizations that serve patients living with lysosomal storage disorders (LSDs). [...]

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Gaucher Disease - A 20 Year Diagnostic Journey

Jan 6, 2016 - Category: Gaucher News

In this exclusive interview with Rare Disease Report, Tamara Issacs Ciocci describes the long diagnostic nightmare she went through to finally - at the age of 21 - be diagnosed with Gaucher disease type 1. During that period, she was misdiagnosed with numerous conditions, including lupus and leukemia. [...]

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The Boy in the Bubble’ Moved a World He Couldn’t Touch

Jan 5, 2016 - Category: Health News

The epitaph on David Phillip Vetter’s gravestone observes correctly that "he never touched the world." How could he have? From a few seconds after his birth until two weeks before his death at age 12, David lived life entirely in one plastic bubble or another. [...]

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Lindsay's Dance-A-Thon Raising Awareness and Funds for Gaucher Disease

Jan 4, 2016 - Category: Gaucher News

Lindsay's Dance-A-Thon Raising Awareness and Funds for Gaucher DiseaseMy name is Lindsay Zuckerman. I am 12 years old and I have Type 1 Gaucher disease. I have struggled with much pain over the years but I am able to live a pretty normal life because of the enzyme replacement therapy infusions I receive every other week. The work of the National Gaucher Foundation is very important to my life. [...]

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Hatch named co-chairman of Rare Disease Congressional Caucus

Dec 28, 2015 - Category: Rare And Orphan Disease News

Hatch named co-chairman of Rare Disease Congressional CaucusSens. Orrin Hatch, R-Utah, and Amy Klobuchar, D-Minn., will jointly lead the Rare Disease Congressional Caucus, which aims to bring public and congressional awareness to the needs of the rare disease community. Hatch and Klobuchar’s new role offers an opportunity to work with patients, physicians, scientists and the medical industry to create opportunities. [...]

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The most popular nutrition trends of 2015

Dec 27, 2015 - Category: Health News

The most popular nutrition trends of 2015We focused on eating ‘real’ food again that is unprocessed, natural, and full of goodness, as seen in our round-up of the most popular nutrition and health food trends of the year. 2015 saw a big shift towards a no-sugar diet as we began to realise the many health benefits of kicking our sweet addiction. [...]

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Cancer Research Network Enables Collaboration and Data-sharing Between Multiple Cancer Centers

Dec 25, 2015 - Category: Rare And Orphan Disease News

A new system that facilitates data and biospecimen sharing among cancer centers may speed up the transition of cancer research findings from the laboratory to patient care, according to a study published in Cancer Research (doi:10.1158/0008-5472.CAN-15-1973). [...]

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Parents of Children With Rare Diseases Find Hope in For-Profit Companies

Dec 25, 2015 - Category: Rare And Orphan Disease News

Parents of Children With Rare Diseases Find Hope in For-Profit CompaniesKaren Aiach was working as a management consultant when she learned that her first daughter, Ornella, had Sanfilippo syndrome, a rare disease in which a missing enzyme causes toxic substances to build up in the body. Ornella was 6 months old, and the prognosis was grim: She would develop mentally and physically to between ages 2 and 4. [...]

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Personal training with a holistic, mental health focus

Dec 24, 2015 - Category: Health News

Personal training with a holistic, mental health focusSUPPORT, coping skills and baby steps in the direction you want to go are the keys to achieving what you want. And owner of NQ Rehab and Health Mel Crawford wants to help. As part of her business, Miss Crawford holds personal training sessions that are holistic and affordable, to improve positive focus, fitness goals, mental health, motivation, nutrition and prevention. [...]

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Critics say Orphan Drug Act is abused

Dec 23, 2015 - Category: Health News

Tension is growing over the rising prices of drugs in the United States. Some companies have been harshly criticized for abruptly raising the prices of medicines after acquiring them — without having taken the risks involved in research and development. [...]

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Patient-Reported Disease Databases Can Assist in Drug Development

Dec 17, 2015 - Category: Rare And Orphan Disease News

Such databases often are created by advocacy groups, private companies and government agencies to track patients for years to determine how a disease progresses, as well as the effects of different treatments when used in the real world, as opposed to a clinical trial. [...]

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Inflammation can fan the flames of depression

Dec 17, 2015 - Category: Health News

Inflammation can fan the flames of depressionChronic inflammation in the bloodstream can "fan the flames" of depression, much like throwing gasoline on a fire, according to a new paper from researchers at Rice University and Ohio State University. "Inflammation: Depression Fans the Flames and Feasts on the Heat" appeared in a recent edition of the American Journal of Psychiatry. [...]

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EveryLife Foundation for Rare Diseases Announces Formation of Bicameral Rare Disease Congressional Caucus

Dec 17, 2015 - Category: Rare And Orphan Disease News

In a show of bipartisan support for the rare disease community, members of the House and Senate joined together to form the first bicameral Rare Disease Congressional Caucus. The Caucus will be critical in raising awareness of the challenges faced by rare disease patients and serve as a platform for giving those individuals a voice in both the House and Senate. [...]

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"Dark Matter" in Cancer Genome Prompts Immune Response

Dec 14, 2015 - Category: Health News

Researchers at the Icahn School of Medicine at Mount Sinai have discovered a group of non-coding RNA molecules in cancer cells that sets off an immune response because they appear to have features similar to those of pathogens. As a result of these molecules being expressed and amplified in cancer. [...]

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National Gaucher Foundation (NGF) Transition Planned for 2016

Dec 10, 2015 - Category: Gaucher News

Rockville, MD. – December 10, 2015 – After 21 years of service, Rhonda Buyers, CEO/Executive Director of the NGF is slated to retire. Rhonda Buyers, CEO/Executive Director of the National Gaucher Foundation (NGF), will be retiring at the end of the calendar year. [...]

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Type 1 Gaucher disease Research Study at University of Texas Health Science Center

Dec 9, 2015 - Category: Gaucher News

Victoria Wagner is a graduate student in the Genetic Counseling Program at the University of Texas Health Science Center at Houston. She is conducting a research study as part of the requirements of her degree and is seeking your participation. [...]

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Pfizer Promoting Gaucher and Other Rare Disease Medicines

Dec 9, 2015 - Category: Gaucher News

Pfizer's Rare Disease medicines and rre disease pipeline promotion is underway, but needs your help. We are looking for patients who who would be willing to be photographed as "models" for Gaucher disease. Additionally, for those interested, we would appreciate having quotes from patients and would like to produce a video using models. If you do not wish to be quoted or be in a video, that is entirely your decision. [...]

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FDA Authorizes First Human Study to Use In Vivo Genome Editing Application

Dec 8, 2015 - Category: Health News

FDA Authorizes First Human Study to Use In Vivo Genome Editing ApplicationThe US Food and Drug Administration (FDA) broke new ground last week when it authorized the world’s first human clinical trial for an in vivo genome editing application. The investigational new drug (IND) application approval for California-based Sangamo, which is the first and only company to put a gene editing therapy into clinical trials. [...]

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How Big Pharma Creates Disease!!

Dec 7, 2015 - Category: Health News

Gwen Olsen is a former pharmaceutical sales representative. She shares how common the creation of conditions is, especially with antidepressants and antipsychotic medications. She also talks about the addictive nature of these medications and how many of them are meant to be given throughout the lifetime of the patient. [...]

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Heart Failure Protein Tied to Brain Atrophy

Dec 4, 2015 - Category: Health News

Levels of N-terminal pro b-type natriuretic peptide (NT-proBNP), currently used as a biomarker for heart failure, were correlated with subtle changes in brain structure including gray matter loss, researchers said here. The findings suggest that, in patients with heart disease, clinicians should be aware of the possibility of subclinical but progressive neurological dysfunction. [...]

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Can cancer itself damage the heart?

Dec 3, 2015 - Category: Health News

Research presented today at EuroEcho-Imaging 2015 raises the possibility that cancer itself may damage heart muscle irrespective of exposure to cancer drug therapies.1 Researchers from the UK’s first dedicated cardio-oncology clinic found that both treated and untreated cancer patients had impaired heart function. [...]

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Johns Hopkins accuses drugmakers of 'gaming' orphan drug law

Dec 3, 2015 - Category: Rare And Orphan Disease News

The Orphan Drug Act has led to drugmakers developing treatments for very small populations of patients who before suffered or died from rare disease with no hope of a cure. But along the way, experts at Johns Hopkins Medicine argue, drugmakers have learned to game the system through loopholes in the law that they are urging lawmakers to put a patch on. [...]

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Special gift makes life easier for Lyndhurst girl with rare disorder

Dec 2, 2015 - Category: Rare And Orphan Disease News

Special gift makes life easier for Lyndhurst girl with rare disorderGianna Cruz squealed in delight at the delivery on Wednesday of a gift she had so anticipated that she would wish a photo of it on her wall good morning and good night. When she finally laid eyes on it, she broke into tears. The gift: a custom-made stroller made for Gianna, who is 12 and has a rare genetic disorder that makes walking difficult and causes other serious problems. [...]

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The End of Pediatric Cancer Research as We Know It

Dec 2, 2015 - Category: Rare And Orphan Disease News

The End of Pediatric Cancer Research as We Know ItAsk anyone (well maybe not a pediatric oncologist) how many kids get cancer each year. You'll be a hit at parties, I promise. But, seriously, go ahead. Do it. How many children are diagnosed annually with a primary malignancy? Having worked in cancer advocacy for years, I've known the reality but wanted to more clearly wrap my head around the perception. [...]

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Study reveals non-invasive warning sign of kidney disease progression

Dec 2, 2015 - Category: Rare And Orphan Disease News

Study reveals non-invasive warning sign of kidney disease progressionUniversity of Michigan researchers have identified an accessible, non-invasive way to identify patients at risk for progression of kidney disease. Together with the European Renal cDNA Bank and the Joint Institute for Translational and Clinical Research (a collaboration between Peking University Health Sciences Center and U-M). [...]

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Holding Out Hope for Treatment for Daughter's Rare, Life-Threatening Condition

Dec 1, 2015 - Category: Rare And Orphan Disease News

Holding Out Hope for Treatment for Daughter's Rare, Life-Threatening ConditionMarley was still a little suspicious. She hates going to the doctor as much as any kid. But, Marley’s not like a lot of other kids. She’s living with an extremely rare form of dwarfism known as Rhizomelic Chondrodysplasia Punctata, or RCDP. The condition is causing Marley to lose her vision. [...]

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Conducting Virtual Trials Using PBPK To Drive More Precise Label Claims

Nov 18, 2015 - Category: Gaucher News

Conducting Virtual Trials Using PBPK To Drive More Precise Label ClaimsPrecision dosing―the right dose, for the right patient, at the right time―is crucial to providing patients with the safest and most effective medications. To make the dream of precision dosing a reality requires new approaches in drug development. [...]

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NIH researchers find potential target for reducing obesity-related inflammation

Nov 16, 2015 - Category: Health News

Scientists at the National Institutes of Health have identified a potential molecular target for reducing obesity-related inflammation. Researchers have known that overeating by individuals with obesity often triggers inflammation, which has been linked to such diseases as asthma and Type 2 diabetes. [...]

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Raising awareness of a rare disease

Nov 15, 2015 - Category: Rare And Orphan Disease News

Raising awareness of a rare diseaseTamela Oglesby was gasping for air, the 35-year-old nursing assistant said, reaching for her throat as she recounted that night one year ago. My heart was just beating, really, really fast.". Figuring it would be the fastest way there, she took a bus to Pennsylvania Hospital's emergency room, a few blocks from her Northern Liberties apartment. [...]

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Diabetes Is a Symptom of a Larger Problem - and it’s Not Gluttony

Nov 14, 2015 - Category: Health News

Diabetes Is a Symptom of a Larger Problem - and it’s Not GluttonyOne in 11 adults have diabetes worldwide. And the poor feel the majority of the burden. Coincidence? We think not. While the causes of Type 2 diabetes especially are convenient to pin on an individual’s health choices alone, absolving the rest of us from any responsibility, the problem is much more complex. [...]

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AMSA Joins Press Conference Against TPP

Nov 12, 2015 - Category: Legislative News

New York, NY–Physicians and physicians-in-training from the American Medical Student Association (AMSA) will join activists from Health Global Access Project and TradeJustice New York Metro on Friday, November 13 in front of Pfizer's world headquarters for a press conference focused on threats to access to health. [...]

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Health Insights Series: Cure hope for Parkinson's sufferers

Nov 12, 2015 - Category: Gaucher News

Health Insights Series: Cure hope for Parkinson's sufferersBut the most important discovery - a drug that slows or stops the progress of the condition, with its symptoms of tremor, stiffness and slowness of movement - has remained elusive. Now a consensus is emerging among researchers that a rare genetic condition called Gaucher disease. [...]

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Good Luck Getting an Organ Transplant If You're Poor in America

Nov 12, 2015 - Category: Health News

Good Luck Getting an Organ Transplant If You're Poor in AmericaDr. Raymond Givens and his colleagues at Columbia University Medical Center studied organ transplant data from 2000 through 2013 and determined that people who could afford to be on multiple organ transplant waiting lists were often more likely to receive organs than people with just one listing. [...]

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How IBM's Watson supercomputer is battling cancer with advanced genomics

Nov 11, 2015 - Category: Health News

How IBM's Watson supercomputer is battling cancer with advanced genomicsBack in 2003, when he was a fourth year medical student at Washington University in St. Louis looking at a career in oncology, Lukas Wartman was diagnosed with acute lymphoblastic leukemia. For Wartman, the diagnosis was bleak – while this type of leukemia, which affects the blood and bone marrow, is very treatable for children, it often proves fatal for adults. [...]

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Parents for Healthy Schools

Nov 10, 2015 - Category: Health News

Parents for Healthy SchoolsSchools provide students with opportunities to learn about and practice healthy eating. The school nutrition environment refers to the foods and beverages that are available to students throughout the school day, as well as information and messages about food and nutrition that students encounter on school grounds. [...]

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Gaucher disease may protect against Parkinson's disease-related color visual impairment

Nov 10, 2015 - Category: Gaucher Disease News

Parkinson's Disease (PD) patients have a five-fold greater risk of carrying genetic mutations in the β-glucocerebrosidase gene (GBA), which are commonly associated with Gaucher disease (GD). Patients with both PD and GD tend to experience earlier onset of PD and more serious cognitive changes than PD patients without the mutations. [...]

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Ultrasound Helps Drugs Sneak Past the Blood-Brain Barrier

Nov 9, 2015 - Category: Health News

Ultrasound Helps Drugs Sneak Past the Blood-Brain BarrierA new ultrasound technique uses microbubbles and focused sound waves to help chemo medication sneak past the the stubborn blood-brain barrier. Developed by Canadian surgeons, the technique could eventually be used to treat such conditions as Alzheimer’s and depression. [...]

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Advocates look to new government to bring in rare disease strategy

Nov 9, 2015 - Category: Rare And Orphan Disease News

Advocates look to new government to bring in rare disease strategyDurhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, told a crowd of health experts and industry stakeholders at an event put on by the Economic Club of Canada in Ottawa Monday that if they’re not writing letters to the new health minister and prime minister, they’re not doing their jobs. [...]

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Massachusetts owns the orphan drug market. Here’s the proof.

Nov 9, 2015 - Category: Rare And Orphan Disease News

Bay State companies have more of the biggest drugs for rare diseases either already approved or in late-stage development than any other state in the nation. That’s according to an analysis of rare and orphan drugs — those with less than 200,000 patients in the U.S. — done by market intelligence firm Evaluate Pharma for the Boston Business Journal. [...]

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Pitt teams with biopharmaceutical company to target rare diseases

Nov 9, 2015 - Category: Rare And Orphan Disease News

The University of Pittsburgh has announced a research collaboration with biopharmaceutical company Shire Plc designed to advance treatments for rare diseases. Under the agreement, Pitt’s research expertise will augment Shire’s research, development and commercial experience to target treatment of diseases that are overlooked by big pharmaceutical companies. [...]

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11-Year-Old Learns How to Walk With Great Dane's Help

Nov 9, 2015 - Category: Rare And Orphan Disease News

11-Year-Old Learns How to Walk With Great Dane's HelpAn 11-year-old with a rare disease that affects bone growth and limits mobility has found her strongest support in an unlikely place — a Great Dane named George, who will receive an award later this year for his devoted service to his owner. Bella Burton was born with Morquio Syndrome. [...]

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Meat Consumption Linked to Kidney Cancer

Nov 9, 2015 - Category: Health News

A study published in the journal Cancer found that people who have diets high in meat may be at increased risk of developing kidney cancer. The researchers stated that the carcinogenic effect may be traced to the process of cooking meat at high temperatures or over an open flame, such as barbecuing or pan-frying. [...]

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Special treatment for rare diseases

Nov 6, 2015 - Category: Rare And Orphan Disease News

Since relatively few people suffer from rare diseases – fewer than 200,000 in the US - the development of new drugs for these diseases can be difficult to gain approval for. Dr Nicola Davies examines US Food and Drug Administration guidance to aid drug developers working in the area of rare diseases. [...]

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Serious questions on health allocations

Nov 6, 2015 - Category: Health News

Serious questions on health allocationsThe Government of India was quick to issue a detailed denial of the harsh criticism of India’s health system voiced by a leading health expert of the world, but the controversy relating to these comments refuses to die, in fact it has escalated further. The Lancet, one of the most prestigious medical journals of the world. [...]

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Living Alone May Encourage Poor Diet

Nov 5, 2015 - Category: Health News

Living Alone May Encourage Poor DietAre you currently living alone? Your social situation may actually prevent you from eating healthy, says a new study. Queensland University of Technology (QUT) has just released a study that establishes a link between nutrient or food consumption and living alone by studying more than 35 previous researches about the subject. [...]

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Health Care and the Budget Deal: Three Steps Forward, One Step Back

Oct 28, 2015 - Category: Health News

Health Care and the Budget Deal: Three Steps Forward, One Step BackYesterday, the White House and Congressional leaders announced a last-minute budget agreement that avoids a so-called government shut-down for now. The deal has four health-related items, and is expected to reduce net federal health spending by about $4.5 billion over five years, and $15.5 billion over ten years. [...]

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DDA honoring founder Megan Barron’s legacy

Oct 27, 2015 - Category: Rare And Orphan Disease News

DDA honoring founder Megan Barron’s legacyFollowing the death of Megan Barron, Trinity ‘13, the Duke Disability Alliance is working to continue the efforts she began as its founder. Barron, who was born with the rare skin disease epidermolysis bullosa, died Sept. 10 at the age of 24. She advocated for many disability awareness organizations both during and after her time at Duke. [...]

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New Report: Health Care Spending Grew 3.4 Percent in 2014, With More Dollars Going to Brand Drugs

Oct 27, 2015 - Category: Health News

HCCI's Five Year Analysis Shows Steady Growth in Health Care Spending, Even As Use of Services Declined HCCI's 2014 Health Care Cost and Utilization Report analyzes the health care spending trends for Americans younger than age 65 and covered by employer sponsored insurance (ESI) for the years 2010 through 2014. [...]

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How to take clinical research to the next level

Oct 26, 2015 - Category: Health News

How to take clinical research to the next levelRandomized clinical trials have changed little in 70 years, and it’s time to revamp the approach by merging clinical research with clinical practice. But I can tell you how this tradition got started. Clinical practice was once dictated by the clinician’s experience, which was biased and hampered learning. [...]

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Pfizer Expands Support for Patients with Gaucher Disease Through New Agreement for ELELYSO

Oct 26, 2015 - Category: Gaucher Disease News

Pfizer Inc. today announced the completion of an agreement with Protalix in which Pfizer will expand its support of ELELYSOTM for the Gaucher community. Through this agreement, Pfizer will expand its commercialization rights to include Israel, while Protalix will retain the commercialization rights in Brazil. [...]

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Jonathan Kantrowitz Lack of adequate food is an ongoing health risk to US children

Oct 23, 2015 - Category: Health News

For the first time, the American Academy of Pediatrics (AAP) is recommending that pediatricians screen all children for food insecurity. In a new policy statement identifying the short and long-term adverse health impacts of food insecurity. [...]

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The One Thing Diet and Health Experts Wish You Would Stop Doing

Oct 23, 2015 - Category: Health News

The One Thing Diet and Health Experts Wish You Would Stop DoingTrying to eat right and live a generally healthy life in a world of tacos and Netflix is a constant struggle. Compound that with all the diets, non-diets, and studies telling us that just about everything we do will shorten our lives and you end up with a bunch of confusion (and weird bone-broth diets). [...]

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Please help us find people in the Ukrainian American community!!

Oct 23, 2015 - Category: Gaucher Disease News

The National Gaucher Foundation is working with the European Gaucher Association and looking for Gaucher patients of Ukrainian origin in the US with hopes that they would be willing to be contacted by the Ukraine Gaucher patient group for their support. [...]

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Senators Introduce Two Bills to Streamline FDA Reviews of Medical Devices

Oct 22, 2015 - Category: Legislative News

Senators Introduce Two Bills to Streamline FDA Reviews of Medical DevicesSens. Cory Gardner and Joe Donnelly late Wednesday announced the introduction of two new bills that would further streamline the US Food and Drug Administration (FDA) approval process for certain medical devices. One of the bills -- the Rare Device Innovation Act -- would expand the threshold by which FDA could approve medical devices that treat rare diseases. [...]

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Maine girl with rare disease and many followers dies at age 4

Oct 21, 2015 - Category: Rare And Orphan Disease News

Maine girl with rare disease and many followers dies at age 4A new task force is being formed to give a voice to those suffering from rare diseases. The task force, which was approved by lawmakers, is comprised of legislators and medical experts. It’ll help people like 14-year-old Jackie Stager, who said she had to quit ballet due to the pain she endures from Ehlers-Danlos syndrome. [...]

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Task force aims to help patients of rare diseases

Oct 21, 2015 - Category: Rare And Orphan Disease News

Task force aims to help patients of rare diseasesA new task force is being formed to give a voice to those suffering from rare diseases. The task force, which was approved by lawmakers, is comprised of legislators and medical experts. It’ll help people like 14-year-old Jackie Stager, who said she had to quit ballet due to the pain she endures from Ehlers-Danlos syndrome. [...]

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23andMe Relaunches Direct-to-Consumer Gene Test

Oct 21, 2015 - Category: Rare And Orphan Disease News

23andMe Relaunches Direct-to-Consumer Gene TestThe closely held Mountain View, Calif., company said it now has FDA clearance to sell a test that it says can tell consumers whether they carry a genetic variant for one of 36 rare diseases that could be passed on to their offspring. 23andMe Relaunches Direct-to-Consumer Gene Test "We’re coming back," said Anne Wojcicki, 23andMe’s chief executive officer. [...]

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NUTRITION: Herbs play a role in healthy cooking

Oct 20, 2015 - Category: Health News

Herbs should be an important part of your cooking. They have many beneficial health properties; they may help protect against heart disease, cancer and diabetes. Herbs provide their own nutritional benefits, and they add a lot of flavor to food so you can minimize the use of added salts and fats. [...]

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Is nutrition the future of brain health?

Oct 20, 2015 - Category: Health News

Is nutrition the future of brain health?For most of the 20th century, however, scientists were convinced that one organ—the brain—lacked that ability. Shortly after birth, they thought, our brains had as many neurons as they were ever going to have, and if we lost brain cells because of injury or aging, we were never going to make more of them. [...]

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Drug Firms Buy Pricey Vouchers to Speed Products to Market

Oct 20, 2015 - Category: Rare And Orphan Disease News

Drug Firms Buy Pricey Vouchers to Speed Products to MarketAbbVie, Sanofi are among those paying large sums for ‘priority review’. Legal provisions enacted in 2007 and 2012 require the U.S. Food and Drug Administration to issue "priority review vouchers" as rewards to developers of drugs for rare pediatric conditions or tropical diseases like malaria. [...]

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October - Gaucher Disease Awareness Month

Oct 14, 2015 - Category: Gaucher Disease News

1 October is the beginning of Gaucher Disease Awareness Month and the importance of bringing this rare genetic disorder to the forefront, creating greater public awareness is no less important this year than last. Great strides have been made over the years and I have witnessed a huge change for the better. [...]

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Another Voice: House legislation would modernize legal and regulatory systems governing health care

Oct 9, 2015 - Category: Legislative News

Over the past two decades, health care innovation has advanced at a rapid speed. Breakthroughs, from the mapping of the human genome to the evolution of personalized medicine, are changing the way diseases are treated, managed and cured. [...]

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Rare immune deficiency leaves Charlotte-area woman at risk for infections

Oct 7, 2015 - Category: Rare And Orphan Disease News

Rare immune deficiency leaves Charlotte-area woman at risk for infectionsIt took years for Lauren Dunlap to find out why she was getting sick all the time. In her 20s, she frequently contracted pneumonia and other bacterial infections that required treatment with antibiotics and sometimes sent her to the hospital. Once she coughed so hard she cracked a rib. Her body became resistant to 13 antibiotics because she took them so often. [...]

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CDC Report Details Suicide Rate in Native Americans

Oct 7, 2015 - Category: Health News

CDC Report Details Suicide Rate in Native AmericansYoung American Indians and Alaska Natives (AIAN) have much higher rates of suicide than those of other racial and ethnic groups, according to findings of a new federal report. The findings, published by the Center for Disease Control and Prevention's Center for Health Statistics, found that young AIAN men were more. [...]

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Website Tries to Spread Gaucher Awareness

Oct 6, 2015 - Category: Gaucher Disease News

Website Tries to Spread Gaucher AwarenessPharmaceutical company Genzyme is sponsoring a new national program called Gaucher on the Map to raise awareness of Gaucher disease during October, which is Gaucher Awareness Month. Gaucher is a genetic disorder that affects one in 40,000 to 60,000 people worldwide but whose incidence is one in 850 among Ashkenazi Jews. [...]

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PCORI Board Approves $83 Million for Research on Multiple Sclerosis, Hepatitis C and Rare Diseases

Oct 6, 2015 - Category: Rare And Orphan Disease News

PCORI Board Approves $83 Million for Research on Multiple Sclerosis, Hepatitis C and Rare DiseasesThe Patient-Centered Outcomes Research Institute (PCORI) Board of Governors recently approved an $83 million grant to support 26 patient-centered, comparative effectiveness clinical research studies on a range of diseases and patient groups. Two of these grants, totaling $29.5 million, will fund research into the care of patients infected with hepatitis C virus (HCV). [...]

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Snack Your Way to Smart Nutrition

Oct 3, 2015 - Category: Health News

Snack Your Way to Smart NutritionAspirations are high at the start of each new school year. From aiming for good grades to making a fresh commitment to better snack and lunch choices, it’s a time of year to set goals and start reaching for your big dreams. Serving up nutritious lunches and snacks is an easy start for heading down a successful path. [...]

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Feds launch brain health campaign at Las Vegas expo

Oct 3, 2015 - Category: Health News

Feds launch brain health campaign at Las Vegas expoLas Vegas became one of the first host cities on Saturday to launch the U.S. Department of Health and Human Services' campaign, "What is Brain Health?" More than 15,000 people flocked to the Successful Aging Expo at Cashman Center to find out about finances, health and nutrition, and more. [...]

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Local woman runs Hawaii race in honor of sister, works with mom to pass rare disease legislation

Oct 2, 2015 - Category: Legislative News

Local woman runs Hawaii race in honor of sister, works with mom to pass rare disease legislationWhen Laura King Edwards ran the Thunder Road Half Marathon blindfolded nearly two years ago, she had no idea her efforts would take her thousands of miles across the Pacific to raise awareness of rare diseases. That’s exactly what happened just a few weeks ago, as Edwards completed the Kauai Half Marathon in Kauai, Hawaii. [...]

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EMBL-EBI and the Sanger Institute News (Stem Cells)

Oct 1, 2015 - Category: Health News

Researchers on the Wellcome Genome Campus reveal new genes involved in stem cell pluripotency, new subpopulations of cells and new methods to find meaning in the data. Published in Cell Stem Cell, the findings have implications for the study of early development. [...]

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Genzyme Launches 'Gaucher On The Map' Program to Raise Awareness of Gaucher Disease in Every State in America During Gaucher Awareness Month

Oct 1, 2015 - Category: Gaucher Disease News

In support of Gaucher Awareness Month this October, Genzyme Corporation, a Sanofi Company, is sponsoring a new national program called "Gaucher on the Map" to raise awareness of Gaucher disease, an inherited genetic disorder that affects 1 in 40,000-60,000 people worldwide. [...]

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Warren, Bennet, Burr, Hatch Introduce Bill to Expedite Development of Drugs for Rare Diseases

Sep 18, 2015 - Category: Legislative News

Senators Elizabeth Warren (D-MA), Michael Bennet (D-CO), Richard Burr (R-NC), and Orrin Hatch (R-UT) have introduced the Advancing Targeted Therapies for Rare Diseases Act of 2015. This bipartisan bill will help advance the development of drugs for patients with serious or life-threatening rare genetic diseases by providing innovators the clarity they need to develop targeted therapies. [...]

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Emerging biopharma field draws investors

Sep 18, 2015 - Category: Rare And Orphan Disease News

Emerging biopharma field draws investorsMore than 525 clinical trials are underway worldwide to test new ways of growing human tissue, implanting cells, and modifying genes to treat patients with a range of diseases, drawing nearly $5 billion in financial backing in the second quarter, according to new data. But the emerging field of regenerative medicine. [...]

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Keeping your Family Safe from Mumps and Other Rare Diseases

Sep 17, 2015 - Category: Rare And Orphan Disease News

Keeping your Family Safe from Mumps and Other Rare DiseasesRare diseases are making their way into our area. McLean County is dealing with an outbreak of the Mumps. As of yesterday, McLean County reported 16 confirmed cases of the mumps. It's a disease many might not have heard about in a while. Doctors say tell-tale symptoms are fever, body aches and swollen glands especially around the jaw and ears. [...]

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Orphan Drugs: Rare Diseases, Rare Funding

Sep 17, 2015 - Category: Rare And Orphan Disease News

Here’s an unfortunate riddle: What affects as many as 25,000 Americans (as reported by the NIH) but receives only a small slice of the pharmaceutical funding pie? The answer is an orphan disease. Defined by the Orphan Drug Act of 1983 as a condition affecting fewer than 200,000 people nationwide, there are more than 6,000 orphan diseases known today ranging from well-known ALS to little-known NGLY1. [...]

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Sharp Edge Labs Awarded Funds for Parkinson’s Drug Discovery Effort

Sep 15, 2015 - Category: Rare And Orphan Disease News

Sharp Edge Labs, Inc., a drug discovery biology firm, today announced that they have been awarded a grant from The Michael J. Fox Foundation for Parkinson’s Research to apply their proprietary technology to a drug discovery effort for Parkinson’s disease. The grant covers the development of a high-throughput compound screening (HTS) assay for a protein trafficking defect related to Parkinson’s. [...]

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Living With a Rare Disease Letter

Sep 11, 2015 - Category: Rare And Orphan Disease News

"Living with a Rare Disease" was a recent theme for International Rare Disease Day, co-sponsored by the National Organization for Rare Disorders (NORD) and the European Organization for Rare Disorders. This designated last day of February each year provides an opportunity to focus on improved awareness of those who live with a rare diagnosis. [...]

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Screening of Ashkenazi Jews for genetic diseases has not yet reached potential, study finds

Sep 11, 2015 - Category: Rare And Orphan Disease News

Although screening programs to identify carriers of recessive gene mutations have been effective in reducing the incidence of genetic diseases among Ashkenazi Jews in Israel and abroad in recent decades, these programs "have not realized their potential," according to a recent study published by American and Israeli researchers. [...]

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New prion disease raises questions about whether Alzheimer’s and Parkinson’s could be infectious

Sep 7, 2015 - Category: Rare And Orphan Disease News

Research published last week has identified the first new human prion disease in 50 years. The paper’s lead author, Stanley Prusiner, who won the Nobel prize in 1997 for his discovery that Creutzfeldt-Jakob disease (CJD) could be transmitted by a "misfolded" protein, says this new disease is also potentially infectious. [...]

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Shaare Zedek Researchers Develop Technique to Detect Hereditary Diseases

Sep 3, 2015 - Category: Rare And Orphan Disease News

Shaare Zedek Researchers Develop Technique to Detect Hereditary DiseasesA research team, headed by Dr. Gheona Altarescu, head of the pre-implantation genetic diagnosis project at Shaare Zedek Medical Center’s Fuld Family Institute for Medical Genetics, together with Dr. David Ze’evi, has developed a new technique to detect hereditary diseases in young embryos and fetuses in natural pregnancies. [...]

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Tuscon Mother, Shanna Kovach to Hold Gaucher Youth Gathering and Duck Tour in Boston, MA

Sep 1, 2015 - Category: Gaucher Disease News

The theme of the meeting is "Building Bridges: Young Gaucher Mentors and Community Gathering". Shanna's goal for this gathering is to help her 14 year old daughter, Emberly,who will soon be embarking upon enzyme replacement therapy for Gaucher Disease. [...]

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Non-invasive test for Gaucher disease developed

Sep 1, 2015 - Category: Gaucher Disease News

Non-invasive test for Gaucher disease developedResearchers at Jerusalem’s Shaare Zedek Medical Center have developed a new technique to discover hereditary diseases in young embryos and fetuses in natural pregnancies without the need to examine samples of amniotic fluid in the uterus. The team, headed by Dr. Gheona Altarescu, head of the preimplantation genetic diagnosis project. [...]

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Altered protein found to cause rare Parkinson’s-like disease

Aug 31, 2015 - Category: Rare And Orphan Disease News

Altered protein found to cause rare Parkinson’s-like diseaseWhen Stanley B. Prusiner, a UCSF neurologist, first proposed that inert proteins he called prions could somehow fold into strange shapes and infect humans with rare diseases of the brain, his idea 30 years ago was widely dismissed as nonsense. Twenty years later, those infectious prions — which Prusiner coined from two words, protein and infection — won him a Nobel Prize. [...]

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BACK TO SCHOOL: For nutrition, think outside lunch box

Aug 31, 2015 - Category: Health and Nutrition News

BACK TO SCHOOL: For nutrition, think outside lunch boxEating healthy while at school not only helps youngsters grow, but enables them to stay alert, engaged and focused throughout the day, says a public health dietitian with the Brant County Health Unit. "Packing a healthy lunch all the time can be a challenge in a busy household," but there are ways to keep it interesting, said Jennifer Strome. [...]

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NGF Patient Survey Results

Aug 31, 2015 - Category: Gaucher Disease News

This survey of 70 Gaucher patients was conducted via phone June/July, 2015 as part of the National Gaucher Foundation, Inc.’s Gaucher Awareness projects. Prior to Awareness Month, The NGF will also post an online survey for patients, caregivers and families in preparation for its 2016 education and awareness program. We look forward to your participation. [...]

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Tuscon Mother to Hold Gaucher Youth Gathering

Aug 28, 2015 - Category: Gaucher Disease News

The goal of the summit, is to help her daughter who has Gaucher disease and in doing so, she hopes to bridge the gap between older patients and those ages 12 through 25. [...]

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Ottawa sisters have each other in fight against rare Gaucher disease

Aug 28, 2015 - Category: Gaucher Disease News

Ottawa sisters have each other in fight against rare Gaucher diseaseIt’s a rare disease that two Ottawa sisters would never wish on the other. But both Kate and Meghan White agree they are thankful they had each other growing up with Gaucher disease. "As much as I wish with every fibre of my being that my sister was healthy ... growing up with a rare condition, when you don’t know anyone else with the disease, can be very isolating,". [...]

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Global Genes Announces Celebrities, Iconic Athletes and Pop Stars Joining the Fourth Annual RARE Tribute to Champions of Hope Gala

Aug 25, 2015 - Category: Rare And Orphan Disease News

Global Genes™ is pleased to announce celebrities, iconic athletes and pop stars that will be joining the 4th Annual RARE Tribute to Champions of Hope gala on September 26, 2015 at the Hyatt Regency Huntington Beach Resort and Spa in Huntington Beach, CA. [...]

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National Gaucher Foundation announces Gaucher Awareness Month in October

Aug 19, 2015 - Category: Gaucher Disease News

Gaucher Awareness Month kicks off October 1 with a month-long series of educational and outreach programs designed to shed light on this devastating illness that affects anyone regardless of age, gender or ethnicity. The highlight event, the National Gaucher Conference will be held in Bethesda, MD on October 18-19, 2015 in memory of John A. Barranger, MD PhD. [...]

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For a Rare Disease, Drug Trials Scramble for Patients

Aug 19, 2015 - Category: Rare And Orphan Disease News

For a Rare Disease, Drug Trials Scramble for PatientsAfter years of effort, scientists and families of young patients with the genetic condition Niemann-Pick Type C are in a position to which any rare-disease community aspires: the prospect of not one, not two, but three companies launching clinical trials to develop therapies. But the flurry of commercial interest has sparked an urgent debate. [...]

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Nutritional health most valued among the young and affluent | Gustafson

Aug 19, 2015 - Category: Health and Nutrition News

You would have thought, "the older, the wiser." But when it comes to diet and lifestyle choices, today’s young people seem to be doing better than any generation living before them. In a survey conducted by Nielsen, an international market research company. [...]

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Do the New FDA Nutrition Labels Encourage Gluttony?

Aug 18, 2015 - Category: Health and Nutrition News

Do the New FDA Nutrition Labels Encourage Gluttony?Last year, the Food and Drug Administration announced it would be overhauling its Nutrition Facts label for the first time in more than 20 years. Among proposed changes to the chart, which is found on most food packaging, is a more realistic assessment of serving size, which reflects the amount of the product people actually eat at one sitting. [...]

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New FDA Guidance Addresses Common Issues in Orphan Drug Development

Aug 17, 2015 - Category: Rare And Orphan Disease News

The US Food and Drug Administration (FDA) has released a draft guidance intended to help drugmakers tackle common issues encountered in the development of drugs to treat rare diseases. In the US, orphan drugs, or drugs used to treat rare diseases which affect fewer than 200,000 people, are given incentives, such as a longer period of marketing exclusivity, tax credits and user fee waivers. [...]

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Novel Diagnostic Tool for Detecting Pulmonary Diseases in Children Shows Promise

Aug 17, 2015 - Category: Rare And Orphan Disease News

Novel Diagnostic Tool for Detecting Pulmonary Diseases in Children Shows PromiseRecognizing specific pulmonary diseases in children can be challenging as the clinical symptoms are often non-specific. Rare diseases can therefore be missed by pediatricians. This is the case in CF, a life-threatening genetic disease in which a defective gene (CFTR) induces a salt imbalance, causing the body to form unusually thick. [...]

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McCrory signs law to battle rare diseases

Aug 17, 2015 - Category: Legislative News

McCrory signs law to battle rare diseasesThese diseases can prove difficult to attack. Although some 25 million people in the United States suffer from a rare disease, more people than cancer and HIV combined. However, there are 7,000 different rare diseases, and – as the name suggests – each individual disease affects only a small percentage of the population. [...]

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Charlotte Charity Inspires New Law Designed to Spur Treatments for Rare Diseases and Economic Growth for North Carolina

Aug 12, 2015 - Category: Legislative News

Charlotte charity Taylor’s Tale helped inspire a law designed to stimulate the creation of new treatments for rare diseases and spur economic development in North Carolina. House Bill 823, signed into law by Governor McCrory on August 6. [...]

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The Psychosocial and Neurocognitive Impacts of Gaucher Disease, Type 1 on Pediatric and Young Adult Patients

Aug 12, 2015 - Category: Gaucher Disease News

Researchers from Palo Alto University are seeking participants between the ages of 5-25 and their parent(s) to participate in a study of the psychological and cognitive impacts of Gaucher disease type 1 on children, young adults, and family members. [...]

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European Gaucher Alliance News

Aug 3, 2015 - Category: Gaucher Disease News

The EGA is pleased to announce the launch of its new Facebook page. Please visit and like our page at https://www.facebook.com/EuropeanGaucherAlliance As well as keeping you up to date with news and events, we hope to encourage greater awareness of Gaucher disease and the work of the EGA. [...]

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Liverpool scientists launch world-leading genetic research which could lead to cancer cure

Aug 3, 2015 - Category: Health and Nutrition News

A pioneering project which could lead to a cure for cancer and change the NHS has been launched at Liverpool Women’s Hospital. Liverpool is one of 11 places across England which has been selected to take part in a £300m world-leading genetic research project. [...]

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Congresswomen Susan describes 21st Century Cures Act as exciting development

Aug 2, 2015 - Category: Health and Nutrition News

The 21st Century Cures Act passed by House of Representatives this month will accelerate the discovery, development and delivery of life saving and life changing treatments and therapies, said Congresswoman Susan W. Brooks. [...]

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Sen. Casey pushes for expansion of research into rare pediatric diseases

Aug 1, 2015 - Category: Legislative News

Sen. Casey pushes for expansion of research into rare pediatric diseasesAdelyn Rinaldi is 2 months old and surviving in a hospital bed on enzyme therapy that treats a rare bone disorder called hypophosphatasia. Only about a dozen living children have her form of the disease worldwide, her mother said. "They don't usually live," said Jennie Rinaldi of Somers, Conn. [...]

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Americans are cutting calories, but far from eating healthy

Jul 30, 2015 - Category: Health and Nutrition News

Crossing the Blood Brain BarrierAfter years of bad news about the obesity epidemic, which affects one-third of Americans, things may finally be looking up. In the past 10 years the rates of obesity appear to be leveling off among both children and adults. The reason for the possible turn in the obesity tide appears to come down to what experts always suspected it would: eating fewer calories. [...]

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CENA Approved for $1.2 Million in Second Phase of Development of PCORnet, a New National Clinical Research Network

Jul 27, 2015 - Category: Rare And Orphan Disease News

A collaborative, cross-disciplinary, team led by Genetic Alliance has been approved for a three-year $1.2 million funding award by the Patient-Centered Outcomes Research Institute (PCORI) as part of the second phase of PCORnet, the National Patient-Centered Clinical Research Network. [...]

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Julian Phillips: Legislation would make specialty drugs affordable for Pennsylvanians

Jul 24, 2015 - Category: Legislative News

Being diagnosed with Reflex Sympathy Syndrome, a chronic, neuro-inflammatory disorder, I would consider myself somewhat of a seasoned expert in the area of chronic pain. My nerves misfire, sending constant pain signals to the brain; the level of pain is measured as one of the most severe on the McGill University Pain Scale. [...]

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The Taliglucerase Alfa (Elelyso®/Uplyso) Active Surveillance Registry in Patients with Gaucher Disease

Jul 22 , 2015 -Category: Gaucher Disease News

The TALIAS Registry has been developed to evaluate the long term safety and effectiveness of taliglucerase alfa (Elelyso®/Uplyso) for Gaucher disease patients being treated with taliglucerase alfa (Elelyso®/Uplyso). This is an observational study conducted by Pfizer for individuals with Gaucher disease (who are prescribed taliglucerase alfa (Elelyso®/Uplyso). [...]

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Crossing the Blood Brain Barrier

Jul 22, 2015 - Category: Health and Nutrition News

Crossing the Blood Brain BarrierTreating an aggressive brain tumor may have come one step closer to reality recently as a company developing a novel therapy got a grant. According to Irwin Hollander, Ph.D., vice president for research and development at Lauren Sciences, "V-Smart™ for GBM, formulated with a potent anti-tumor agent, has promise as an effective new treatment for GBM patients. [...]

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Woman suffers rare disease after taking over-the-counter drug

Jul 21, 2015 - Category: Rare And Orphan Disease News

The Food and Drug Administration has recently asked for new warnings on painkillers like ibuprofen, saying these over-the-counter drugs do raise the risk of heart attack or stroke. But a different side-effect recently landed a woman in the burn unit at Vanderbilt. [...]

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Young Boy Inspires Documentary Series

Jul 21, 2015 - Category: Rare And Orphan Disease News

Currently, they are working on a new series for TLC about people with rare genetic conditions. The documentary series will feature inspirational adults and children as well as, in some cases, their parents, carers, close family and friends. [...]

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How can these scientists get their promising new drug to market?

Jul 21, 2015 - Category: Rare And Orphan Disease News

How can these scientists get their promising new drug to market?Katharine Sepp, chief executive officer, and Joost Schulte, chief scientific officer, co-founders of Oxalys Pharma, knew that they had discovered a promising new drug candidate for treating neurodegenerative disorders such as Parkinson’s and Huntington diseases but the challenge was to figure out a way to successfully commercialize their discovery. [...]

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Nutrition: Banning trans fats is a healthy change

Jul 21, 2015 - Category: Health and Nutrition News

Nutrition: Banning trans fats is a healthy changeThe U.S. Food and Drug Administration recently announced that partially hydrogenated oils or trans fats are no longer considered safe and will be banned from all foods in three years. Trans fats lower good HDL cholesterol, raise bad LDL cholesterol and triglycerides, increase insulin resistance and increase inflammation in our bodies. [...]

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Parents seeks treatment for 4-year-old son's rare illness which causes stomach to swell

Jul 21, 2015 - Category: Gaucher Disease News

Parents seeks treatment for 4-year-old son's rare illness which causes stomach to swellThe parents of a four-year-old boy who was diagnosed with a rare illness causing his stomach to swell to the size of a basketball are now seeking medical treatment to cure him. Young Niu Shaolong is from a small village in Zuoquan county, Shanxi. His parents, both farmers, have been doing everything they can to give the boy the help he needs. [...]

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(EACT), S 139/HR 209 letter from CFF to rare disease partners

Jul 20, 2015 - Category: Legislative News

Several months ago you joined with the Cystic Fibrosis Foundation and others in signing a letter in support of the Ensuring Access to Clinical Trials Act (EACT), S 139/HR 209, to permanently remove a barrier to clinical trial participation for those with rare diseases. [...]

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High-risk world of rare genetic diseases: Research efforts improving

Jul 19, 2015 - Category: Rare And Orphan Disease News

High-risk world of rare genetic diseases: Research efforts improvingThese are not isolated stories. In the United States and Europe, a familiar narrative is emerging—a wealthy family takes a child in for a checkup, concerned about her development. Upon hearing a diagnosis of a rare disease, the family flexes its financial resources to try to direct research to cure the disorder. [...]

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Cerdelga Patient Webcast

Jul 17, 2015 - Category: Gaucher Disease News

Patient Interview and webcast with Dr. Pram Mistry. In this webcast patients share their treatment experiences. Dr. Mistry answers some of the most commonly asked questions about Ceredelga. [...]

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How Climate Change Could Threaten The Nutrition Of Millions

Jul 16, 2015 - Category: Health and Nutrition News

How Climate Change Could Threaten The Nutrition Of MillionsThe world already has a hard time properly allocating crucial nutrients to its 7.125 billion residents — and a new study published in The Lancet Wednesday suggests that global warming is only going to increase that challenge. According to the World Health Organization, zinc deficiency currently impacts a little more than thirty percent of humans across the globe. [...]

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The Cystic Fibrosis Foundation Applauds Passage of the Ensuring Access to Clinical Trials Act of 2015 in the U.S. Senate

Jul 16, 2015 - Category: Rare And Orphan Disease News

The Cystic Fibrosis Foundation applauds passage of a bill today in the United States Senate to remove barriers to participation in clinical trials for much-needed treatments of rare diseases or conditions, including cystic fibrosis. [...]

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Celebrate Your Victory – the 21st Century Cures Act Passes the House!

Jul 11, 2015 - Category: Rare And Orphan Disease News

Celebrate Your Victory – the 21st Century Cures Act Passes the House!You Helped Make it Happen! Rare disease patients, advocates and families across the country, including Global Genes and our network, united to make this happen! Your voices were heard by Congress and the House passage of this landmark legislation is an example of what the rare community can accomplish when we work together. [...]

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Desperately ill Alrene yet to receive medication

Jul 8, 2015 - Category: Gaucher Disease News

Desperately ill Alrene yet to receive medicationTHE life of a critically ill 5-year-old girl from Booysens Park hangs in the balance as her parents await the outcome of the government health department "procurement procedures" for the medication she needs. Alrene Scheepers has been waiting for 19 months for her much needed medication to finally be purchased by Dora Nginza Hospital. [...]

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Forcing food companies to cut salt levels could save 4,500 lives in the next decade, scientists say

Jul 6, 2015 - Category: Health and Nutrition News

The health foods that are not that healthyTougher compulsory limits on salt in food would save three times as many lives from heart disease, new research found. It would slash cardiac deaths by about 4,500 in the next decade, compared to 1,500 under the current voluntary pledges by manufacturers to cut salt in processed foods. [...]

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The health foods that are not that healthy

Jul 3, 2015 - Category: Health and Nutrition News

The health foods that are not that healthyIn life, often if it seems too good to be true, it usually is and unfortunately this can be said for some of our favourite 'health' foods. Here are some of the most common 'not so healthy' offenders for you so you can be sure that your healthy choices really are all that you need them to be to keep your body in tip top shape. [...]

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The Surprising Role of Nutrition in Mental Health

Jul 1, 2015 - Category: Health and Nutrition News

If you’ve been reading my blog for a month or more, you know that I have found nutrition to be a powerful force in my recovery from depression. [...]

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Little girl gets go-ahead for expensive treatment

Jul 1, 2015 - Category: Gaucher Disease News

Little girl gets go-ahead for expensive treatmentFive-year-old Alrene suffers from type 1 Gaucher’s disease. It’s a chronic illness that according to WebMD.com is caused by an enzyme not working right to break down a certain type of fat. The fat then builds up, especially in the liver and spleen. The only available treatment for Alrene costs thousands of rands. [...]

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Three simple ways to improve your health

Jul 1, 2015 - Category: Health and Nutrition News

Three simple ways to improve your healthWhen people around North Texas think about losing weight and gaining health, their minds inevitably think of diets, deprivation and excessive exercise. For too many, healthy living and eating is perceived as difficult disengaging, bland and boring. "When we engage in something, we attract it," says Cindy Carbone of Southlake-based Commit to H.E.A.L. [...]

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Half of All Heart Disease Deaths Are Preventable

Jun 30, 2015 - Category: Health and Nutrition News

Half of All Heart Disease Deaths Are PreventableHalf of All Heart Disease Deaths Are Preventable Experts hope that raising awareness will help lower the death rate. In the U.S., preventable risk factors still account for 50 percent of deaths from cardiovascular disease among adults age 45 to 79, according to a new analysis. But even if every state brought levels of those risk factors. [...]

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Shire's "Spotlight on Gaucher" Film Contest

Jun 30, 2015 - Category: Gaucher Disease News

Shire's "Spotlight on Gaucher" Film ContestShare your own personal story of living with Gaucher disease. We invite you to make a video about life with or your experiences of Gaucher disease. Sharing your personal experience may empower others to overcome the challenges of living with the condition, while also raising awareness of the signs and symptoms of Gaucher disease. [...]

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Response to King v. Burwell Decision

Jun 25, 2015 - Category: Legislative News

Response to King v. Burwell DecisionToday’s Supreme Court decision is a victory for millions of Americans who have gained health insurance under the Affordable Care Act and who are at reduced risk of losing everything to the physical and financial costs of the injuries and illnesses we all experience. In this way, today’s decision promotes effective public policy against homelessness. [...]

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The Government Tells You How to Eat Healthy, But Should It Tell You How to Eat Green?

Jun 24, 2015 - Category: Health and Nutrition News

The Government Tells You How to Eat Healthy, But Should It Tell You How to Eat Green?Eating less meat is better for the environment.That's the advice doled out by an independent panel of experts earlier this year in a set of recommendations for the next round of federal dietary guidelines. But if House Republicans get their way, that message may never be delivered. [...]

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Advances in Understanding and Treatment of Gaucher Disease

Jun 24, 2015 - Category: Gaucher Disease News

Dr. Mistry spoke on new advances in understanding the role of the immune system in Gaucher disease and treatment of Gaucher disease. He covered the FDA approved treatments of Gaucher disease in his talk and discussed unmet needs. [...]

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West discovers health benefits of Indian spice turmeric

Jun 22, 2015 - Category: Health and Nutrition News

West discovers health benefits of Indian spice turmericMultiple studies show that turmeric can help prevent or treat a wide spectrum of cancers, inflammatory conditions, autoimmune problems, neurological ailments including Alzheimer's disease, cardiovascular disease, diabetes and diabetes neuropathy, among other metabolic diseases. [...]

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Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series

Jun 22, 2015 - Category: Gaucher Disease News

Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. [...]

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Guest opinion: Thousands of local kids fall into summer nutrition gap

Jun 20, 2015 - Category: Health and Nutrition News

While adults may reminisce about carefree childhood summers, this time of year means fewer nutrition resources for many kids across California. [...]

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Biologists Invoke the Past in Modern Bacteria By swapping ancient genes into modern E. coli, scientists hope to tease out the rules of evolution.

Jun 18, 2015 - Category: Health and Nutrition News

Biologists Invoke the Past in Modern Bacteria By swapping ancient genes into modern E. coliOne of the greatest challenges in evolutionary biology is trying to piece together the history of life based on fragmentary evidence and limited knowledge of the forces at play — the rich tapestry of climate, geology and living things that forms the backdrop for evolution. How, for example, did the light-sensitive molecules that enable color vision come into being? [...]

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New White Paper from BIO, NORD, and EY Finds Orphan Drug Tax Credit is Crucial to Rare Disease R&D

Jun 17, 2015 - Category: Rare And Orphan Disease News

Today, the Biotechnology Industry Organization (BIO), the National Organization for Rare Disorders (NORD), and Ernst & Young released "Impact of the Orphan Drug Tax Credit on Treatments for Rare Diseases". [...]

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Canada's Rare Disease Strategy Needs to Become a Reality

Jun 17, 2015 - Category: Rare And Orphan Disease News

Canada's Rare Disease Strategy Needs to Become a Reality Kate is an energetic 24-year-old Ottawa woman who describes herself as an "all too rare, rare disease success story." She and her older sister Meghan have been diagnosed with type 1 Gaucher disease -- a debilitating and painful illness which causes a damaging buildup of fatty substances in vital organs. [...]

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TS govt told to bear expenses of ailing girl

Jun 17, 2015 - Category: Gaucher Disease News

TS govt told to bear expenses of ailing girlTelangana, India Justice PV Sanjay Kumar of the High Court at Hyderabad​ in India on Tuesday directed the state government to undertake for the present the expenses and ensure treatment to three-year- old Sammeeksha who is suffering from a rare medical disorder called the Gaucher disease. [...]

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FDA bans artificial trans fats

Jun 16, 2015 - Category: Health and Nutrition News

FDA bans artificial trans fatsThe U.S. Food and Drug Administration took a key step toward a complete ban on artificial trans fats Tuesday, saying that partially hydrogenated oils are not "generally recognized as safe," and giving food companies three years to remove artificial trans fats from their products. [...]

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Nutrition and Mental Health: Serving Up Happier Days

Jun 11, 2015 - Category: Health and Nutrition News

Nourish your sense of accomplishment and let this fuel each step towards your personal recovery. Do what you can with what you have while you’re getting where you want to be. [...]

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Nutrition is Vital for Mental Health

Jun 11, 2015 - Category: Health and Nutrition News

Poor nutrition is often an underlying factor and aggravator behind many types of mental illnesses, including depression, according to a new international study involving the faculty of medicine and dentistry of the University of Valencia in Spain. [...]

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Missing link found between brain, immune system; major disease implications

Jun 1, 2015 - Category: Health and Nutrition News

In a stunning discovery that overturns decades of textbook teaching, researchers at the University of Virginia School of Medicine have determined that the brain is directly connected to the immune system by vessels previously thought not to exist. [...]

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Rare Families Needed to be matched with Medical Students

Jun 1, 2015 - Category: Rare And Orphan Disease News

Earlier this month, we launched our 2nd annual Cox Prize for Rare Compassion contest which encourages 1st and 2nd year medical students to get to know a rare family and write an essay based on their experiences. [...]

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