Genetic Disease Foundation

A family’s quest to raise awareness about Gaucher’s disease

GDF — Tue, 15 May 2012 14:23:20 +0000

The Newark Star Ledger featured the Trombino family children’s CD in an article this past Sunday. A portion of the proceeds will benefit the GDF. For more information or to purchase, see our earlier post about the “For the Children” by Court of Appeal.

Read the article on the Newark Star Ledger website.

Miles for Mia 5K Run/Walk to Benefit the GDF

GDF — Mon, 16 Apr 2012 04:29:25 +0000

Mia Jeanette Walts, died on October 29, 2011 from a genetic disease called Niemann-Pick Disease Type A. Mia was just 2 ½ years old. In honor of her life, her grandmother, Dale Diane Love, is organizing a 5K run/walk throughout the neighborhoods of Oak Pointe in Brighton, Michigan. The event will take place on Saturday, May 19, 2012 at 9:00 a.m. The proceeds from this event will go directly to the Genetic Disease Foundation.

Visit the Miles for Mia website for event registration information or donate online.

Children’s Music CD Supports the GDF

GDF — Tue, 10 Apr 2012 03:53:11 +0000

This wonderful children’s music CD is titled “For the Children” and was recorded by Court of Appeal. It costs $12, and a portion of the proceeds will benefit the GDF.

It’s available for purchase through iTunes, Amazon.com, cdbaby.com and courtofappealmusic.com.

Gene Mutation Linked to Autism Risk

GDF — Tue, 10 Apr 2012 03:30:53 +0000

Teams of scientists working independently have for the first time identified several gene mutations that they agree sharply increase the chances that a child will develop autism. They have found further evidence that the risk increases with the age of the parents, particularly in fathers over age 35.

Source: The New York Times

Amazon Web Services Hosts Massive Genome Database for Research

GDF — Mon, 02 Apr 2012 02:42:57 +0000

Amazon.com’s Web Services unit has partnered with the National Institutes of Health’s 1000 Genomes Project to store full genetic information from 1,700 individuals. The massive data set takes up some 200 terabytes and is being be made publicly available for anyone to use for research. The hope is that researchers will be able to use the data to unravel the mysteries of how genes work together and amidst environmental factors to cause disease.

Source: The New York Times

Genetic Disease Foundation Welcomes Dr. Eric Schadt, Mount Sinai School of Medicine, to its Medical & Scientific Advisory Board

GDF — Tue, 13 Mar 2012 21:07:54 +0000

New Head of Department of Genetic and Genomics Sciences to Advise GDF

NEW YORK, NY, March 13, 2012 — The Genetic Disease Foundation (GDF), which raises funds to support research and education towards the prevention and treatment of genetic diseases, is pleased to announce that Eric Schadt, PhD, is now a member of its Medical & Scientific Advisory Board. Dr. Schadt, known as a visionary in the use of computational biology in genomics, joined Mount Sinai School of Medicine in August 2011 as Chair of the Department of Genetics and Genomic Sciences and Director of the Institute for Genomics and Multi-scale Biology.

Dr. Schadt brings a bold new research approach, which is premised on studying multiple genes and biological processes through the use of advanced technology and computer models to develop a better understanding of disease causes and ultimately better diagnostics and treatment.

“We are extremely pleased and privileged to welcome a thought-leader like Dr. Schadt to our Advisory Board, where he will help guide the organization’s efforts,” said Elisa Ross, GDF President. “It’s important that GDF stays at the very forefront of genomic medicine so that we can optimize use of funds and provide the most valuable information to others.”

An expert in computational mathematics and sequencing technology, Dr. Schadt’s research at companies including Merck & Co. and Roche Biosciences has helped revolutionize the integration of genetic and molecular profiling data to construct predictive models of disease that have led to a number of discoveries relating to causes of common diseases. He currently maintains his position as Chief Scientific Officer (CSO) at Pacific Biosciences, a third generation DNA sequencing company, where he’s worked since 2009 overseeing the firm’s scientific strategy including creating the vision for next-generation sequencing applications of the company’s technology. Dr. Schadt is also a founding member of Sage Bionetworks, an open access genomics initiative designed to build and support databases and an accessible platform for creating innovative, dynamic disease models.

Two Prominent Maternal Fetal Medicine Specialists Also Join GDF Medical and Scientific Advisory Board

GDF is also pleased to announce the recent addition of two prominent Mount Sinai physicians to its Medical & Scientific Advisory Board: Keith A. Eddleman, MD, Director of Obstetrics and a Professor of Obstetrics, Gynecology & Reproductive Sciences and of Genetics and Genomic Sciences; and Joanne Stone, MD, Director of the Division of Maternal-Fetal Medicine, Director of Perinatal Ultrasound and a Professor of Obstetrics, Gynecology & Reproductive Sciences. Both Dr. Eddleman and Dr. Stone are nationally recognized for their expertise in chorionic villus sampling (CVS) and ultrasound and have published extensively on areas related to high-risk pregnancies in medical journals and other publications.

Dr. Stone has a consultative and clinical practice and is also active in clinical research and education. Her areas of interest include ultrasound, fetal therapy, multi-fetal pregnancy reduction and prenatal diagnosis.
Dr. Eddleman is an expert and educator in maternal-fetal medicine and clinical genetics, specializing in reproductive genetics, ultrasound and diagnostic procedures.

Drs. Eddleman and Stone co-authored the books Pregnancy for Dummies and The Pregnancy Bible and will help guide GDF activities related to genetics and family planning.

About The Genetic Disease Foundation

The Genetic Disease Foundation (GDF) is a 501(c)(3) not-for-profit organization established in 1997 by patients and families affected by genetic disorders. The Foundation’s mission is to support research and conduct educational initiatives towards the prevention and treatment of genetic diseases.

GDF raises funds for various research and patient organizations and has granted millions of dollars to support research and genetic counseling at Mount Sinai’s Department of Genetics and Genomic Sciences. The GDF’s public information campaign, “Know Your Genes,” includes a website, www.knowyourgenes.org, which provides information to help people understand how they can benefit from the latest advances in genetics for family planning and overall health management.

Read about Zak’s Promise on the R.A.R.E. Project website

GDF — Mon, 12 Mar 2012 04:09:59 +0000

Read GDF Board member Jaime Bassel’s inspiring story about his son Zak on the R.A.R.E. Project website.

“My wonderful son Zak was born with a rare genetic disease called Prader-Willi Syndrome (PWS). Although my wife and I may not have felt lucky at the time, we now know that we were blessed with good fortune when Zak was diagnosed as a newborn…” continue reading.

FDA approves new gene-based treatment for rare form of cystic fibrosis (CF)

GDF — Mon, 12 Mar 2012 03:54:04 +0000

Personalized therapy for 4% of CF patients with specific gene mutation

The U.S. Food and Drug Administration recently approved the drug Kalydeco for the treatment of a rare form of cystic fibrosis (CF) in patients who have a specific mutation which affects about 4 percent of patients. CF, which affects about 30,000 people in the United States, is the most common fatal genetic disease in the Caucasian population.

“Kalydeco is the first available treatment that targets the defective CFTR protein, which is the underlying cause of cystic fibrosis,” said Janet Woodcock, M.D., director of the FDA’s Center for Drug Evaluation and Research. “This is a breakthrough therapy for the cystic fibrosis community because current therapies only treat the symptoms of this genetic disease.”

For more information visit the FDA website.

GDF’s “Raise Your Glass” Event a Big Success

GDF — Tue, 13 Dec 2011 05:42:34 +0000

More than 130 people attended Genetic Disease Foundations’s recent wine tasting event “Raise Your Glass,” which raised more than $25,000 to help fund research and education towards the prevention and treatment of genetic diseases. Held on November 14 at the Glass Houses at Manhattan’s Chelsea Art Towers, the event featured wine tasting stations around the room offering a selection from Robert Mondavi Winery, SIMI, Coppola, Brancott, Mumm Napa, Chateau St. Michelle, Antinori, Main St. Winery, Carmen, Alta Luna and Rocca delle Macie. While enjoying the wines and lovely sunset views, guests learned about GDF’s Know Your Genes public service campaign through a video, new brochures and presentations.

Adding to the evening’s entertainment, more than a dozen donated raffle prizes were given out including a five-course tasting dinner for two with wine pairing at Gravy; a Flywheel spin package; catered dinner for four from Paul Evans Caterers; a wine basket from Premier Cru Wine Merchants; two tickets to the Rachel Ray Show; a Cake Boss package; a Sarah Oliver handbag; two tickets to the Westminster Dog Show at Madison Square Garden; two tickets to the opening day of the 2012 US OPEN Tennis Tournament and tour of facility; and a beauty treatment and products from Stephen Knoll Salon.

GDF extends special thanks to Genzyme Personalized Genetic Health and all those who helped make the event a success.

About the Genetic Disease Foundation

The GDF is affiliated with the Mount Sinai School of Medicine’s Department of Genetics and Genomics Sciences, one of the largest medical genetics centers in the United States, whose faculty lead the country in clinical research to improve prenatal diagnosis, carrier screening, genetic counseling methods and therapies for genetic diseases.

Lysosomal Storage Disorders Among Children More Common Than Previously Thought

GDF — Wed, 07 Dec 2011 05:11:15 +0000

Findings of an article published in medical journal The Lancet show that an analysis of dried blood spots from around 35,000 babies in Austria has demonstrated that lysosomal storage disorders are more common than previously thought, even though they remain rare. The finding raises questions in terms of potential screening practicality and its related cost.

In analyzing 34,736 samples from newborn babies the authors discovered 15 cases of lysosomal storage disorders, with the most frequent mutations being Fabry’s disease with 1 per 3,859 births, followed by Pompe’s disease with 1 per 8,684 births, and Gaucher’s disease with 1 per 17,368 births, resulting in a higher than expected combined incidence of 1 per 2,315 birth, compared to estimates of 1 in 7,700 previously.

The authors claim that their study demonstrates the technical feasibility of identifying babies with lysosomal storage disorders, and severe early-onset disease in neonatal screening programs, and point out that early diagnosis is important for timely treatment.

Read more on the Medical News Today website.