Highlights of GDF Impact 
Update for Friends & Supporters
As we settle in to 2015, the Genetic Disease Foundation (GDF) is pleased to provide brief highlights of recent activities. We continue to make strides in research and education through the work of the Foundation and our partners. Thank you for your interest and support of GDF.

“Undiagnosed” Documentary Film Receives Awards

The film, for which GDF has provided funding, is receiving recognition even while it is still in production. Based on the movie's concept and trailer, "Undiagnosed: Medical Refugees" received two accolades at the recent Carmel International Film Festival: An Audience Award and a tie for the Judge’s Panel Award issued by the investor "shark tank." This came as good news to producers, who hope to attract additional investors to optimize timing and quality of the film, which is being created to shed light on the epidemic of undiagnosed illness in the U.S. and worldwide.

Many undiagnosed patients are likely afflicted with a rare genetic disease. The movie will emphasize the role of genetic testing and sequencing in diagnostics. Several personal stories will be highlighted, and a worldwide contest will be launched to diagnose six patients being followed in the film. Anticipated completion is late 2015. GDF will co-host a NYC screening. For more information visit the GDF

GDF Supports Presentation at ASHG Annual Meeting

GDF supported presentation of a study abstract by Dana Doheny, MS, CGC, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai (ISMMS), at the Annual Meeting of the American Society of Human Genetics (ASHG) in October 2014. The abstract outlines research using gene sequencing and analysis to identify links between Fabry disease, a rare genetic disorder that can affect vital organs including the heart, and a more common inherited heart disease, hypertrophic cardiomyopathy (HCM). More details are available at the GDF website.

GDF will also support an abstract presentation by Ms. Doheny at the Annual World Symposium of the Lysosomal Disease Network, to be held in San Diego in February 2015. She will present new research investigating the pathogenicity of the A143T mutation, which may cause Type 2 Late-Onset Fabry disease. The findings could have treatment implications for patients with the gene mutation. More details will be available following the conference. 

Mount Sinai Presents Phase III Data for Rare Disease Therapies

Mount Sinai researchers presented Phase III trial data for two rare disease therapies at the October ASHG meeting. Robert Desnick, PhD, MD, Dean for Genetics and Genomic Medicine, presented results of a study evaluating afamelanotide as treatment for Erythropoietic Protoporphyria (EPP), an inherited disorder in which exposure to sunlight causes incapacitating pain. Dr. Desnick was one of four researchers invited to present the top-rated abstracts from over 4,000 submissions at the Plenary Abstracts Featured Presentation following the Presidential Address. The study found that afamelanotide was safe and well-tolerated and increased patients' pain-free sun exposure time. The drug was approved in December by the European Medicines Agency (EMA) for prevention of phototoxicity in adults with EPP.

Manisha Balwani, MD, MS, Co-director of Mount Sinai's Comprehensive Gaucher Disease Treatment Center, presented Phase III data evaluating the efficacy and safety of eligustat, the FDA-approved oral medication for people with Gaucher disease Type 1. The abstract was presented in a Platform Session, "Therapy for Genetic Disorders."

New Rare Disease Info at GDF Website

The list of genetic diseases on the GDF website now includes the 18 disorders that were recently added to the Ashkenazi Jewish Carrier Screening Panel at Mount Sinai, based on research conducted by the Department of Genetics & Genomic Sciences. The Genetic Diseases page includes 45 rare genetic diseases and links to additional information and resources. All of the diseases can affect people of any ethnicity. The GDF website receives up to 15,000 visits per month from people seeking information about rare genetic disorders. GDF also hosts, which was created to help educate people about genetic screening for family planning and the role of genetics in health.

JGDC Continues Grassroots Education

The Jewish Genetic Disease Consortium (JGDC), a GDF member organization, held the latest in its series of nationwide community programs in Dayton, Ohio. The three-pronged programs help keep medical professionals, rabbis and community members abreast of the latest information regarding Jewish genetic diseases and genetic screening. The Dayton event included: a Grand Rounds presentation to the OB/GYN Dept. at Boonshoft Medical School, Wright State University, Miami Valley Hospital; a Couples Aware presentation to local rabbis about educating couples during pre-marital counseling; and a panel discussion at the Jewish Community Center (JCC), More details are available at the JGDC website.
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