The 2017 WORLD Symposium was held February 13 – 17 in San Diego, CA. This is an international symposium focused on rare lysosomal storage disorders (LSD’s) for which over 1,500 participants attend. Participants range from expert physicians, researchers and treatment innovators in the field of LSD’s to patient advocacy leaders for organizations focused upon LSD’s. The NGF was represented by Brian Berman, President & CEO, Amy Blum, Chief Operating Officer, Dr. Saul Yanovich, Medical Liaison, and Samantha Rubenstein, VP of Education, Awareness & Patient Advocacy.
The NGF began the week of meetings and presentations on Sunday evening, February 12 with a patient meeting in San Diego, CA. The meeting was live streamed on Facebook to enable a wider participation beyond those who attended in person. The meeting opened with a tribute in memory of Carol Lees, an inspirational woman known well in the Gaucher community for her advocacy for other Gaucher patients as well as for her involvement with the NGF over many years. Brian Berman, NGF President and CEO, spoke about the NGF historically as well as the vision for the future and Dr. Pramod Mistry, Director of the National Gaucher Disease Treatment Center and Professor of Pediatrics and Medicine at Yale School of Medicine, presented the most recent research reflective of personalizing care for Gaucher disease. There were numerous questions posed to Dr. Mistry from those in attendance as well as from those all over the world via Facebook live stream. Click here to view the meeting.
Dr. Saul Yanovich created the synopsis below to incorporate the most relevant aspects of the Gaucher disease presentations at WORLD. Please reach out to Dr. Yanovich if you have any questions.
The genotype (specific gene mutation) – phenotype (clinical symptoms and findings) correlation is not absolute. The mutation N370S accounts for about 80% of disease alleles in either a homozygous state (N370S/N370S) or in a compound heterozygous state in Ashkenazi (Eastern European) Jewish patients. Patients who are homozygous for N370S usually have a milder disease; however, some patients may be severely symptomatic. In addition, it is impossible to predict the likelihood of disabling bone complications in an individual patient as the risk factors for fractures and avascular necrosis have been found to be unrelated to disease severity such as visceral involvement or even genotype. Evaluation of overall severity of GD requires comprehensive evaluation of all the organ systems involved in the disease process and should include a physical examination every 6 to 12 months, assessment of blood counts and liver and spleen volumes using MRI and follow-up radiologic studies of the skeleton. It is also advisable to have a consultation with a GD expert once a year or if complications develop.
