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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.

 

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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