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.

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.

LPGA Tour Professional Leta Lindley & more than 20 friends from the Tour will participate in the weekend-long Classic to include a Dinner Gala & Auction, LPGA Pro-Am Golf Tournament, Leta Lindley Invitational and “Kids Helping Kids” Kwik Golf Event.

Visit the Prader-Willi Class website for more information and to register or donate.

The next step say investigators at the NIH’s National Institute of Allergy and Infectious Diseases (NIAID), is to determine if long-term use of plerixafor, which is manufactured by Genzyme Corporation, is safe and effective in adults. If it is, they will consider conducting clinical studies of plerixafor in children with WHIM syndrome.

Source: NIH

More information about WHIM syndrome

“This new law enhances the civil rights of every Californian,” Senator Padilla said in a press release Wednesday. “Ten years from now as more and more Californians obtain their genetic information they will look back and thank Governor Brown for protecting them from discrimination.”

Source: The Spittoon

Know Your Genes Event

SAVE THE DATE
Monday, November 14th, 2011
6-9pm
Glass Houses


Join the Genetic Disease Foundation for a premiere wine tasting event. Enjoy delicious wines and spectacular views of New York City from the Chelsea Art Towers, along with the opportunity to learn how you can get started on “Knowing Your Genes” for family planning, preventive health and more.

May 17, 2011, New York — The Genetic Disease Foundation (GDF) received a check for more than $50,000 from proceeds of the 2011 Leta Lindley Prader-Willi Classic held in January. The annual event with LPGA Tour Professional Leta Lindley is organized by Josilyn’s Faith Foundation headed by Director Ira Levine and President Michael Levine, whose daughter Josilyn is battling Prader-Willi Syndrome.

Pictured above at the check presentation (from l to r): Dr. Robert Desnick, Dean of the Dept. of Genetics & Genomics Sciences at Mount Sinai Medical Center, GDF Medical Advisory Board; Dr. Andrew Sharp, Senior Faculty in the Dept. of Genetics & Genomics Sciences at Mount Sinai Medical Center, GDF Medical Advisory Board; Michael Levine; Ira Levine; Dr. Jamie Bassel, GDF Board of Directors & Medical Advisory Board.

The weekend-long Classic was well-attended and raised over $100,000 for genetic disease research and education.  It began on Friday evening with an opening cocktail party featuring a lively auction.  On Saturday, 125 players participated in Saturday’s LPGA Pro Am event on The Champion Course at the beautiful PGA National Resort and Spa. At the luncheon that followed, Dr. Sharp presented a lecture on the latest research trying to unlock the mysteries of genetic disorders like Prader-Willi.

The 2012 Classic promises to be even better. Mark your calendar now for January 13, 14 and 15, 2012. On Friday there will be a Gala Dinner and Auction; Saturday brings the The Leta Lindley Classic; and on Sunday there will be a “Speed Six” Golf tournament with a clinic for children and a special opportunity for participants to play one-on-one with an LPGA marquee professional partner.

Visit the Leta Lindley Prader-Willi Classic website for more information.

NEW YORK, NY, Jan. 25, 2011 — The Genetic Disease Foundation (GDF) has launched KnowYourGenes.org, a new online resource for people who wish to know more about how genetics can benefit their health and the health of their families. Knowyourgenes.org is an easy-to-understand- and-navigate site where people can sort through the latest information about what tests are available and how results can be used to prevent, prepare for, or manage disease.

Speedy advances in genetic research mean that more gene mutations are being linked with specific diseases, more diagnostic tools are available to pinpoint previously-unidentifiable illnesses, and new treatments are being developed.

“The KnowYourGenes.org site may be helpful to anyone interested in exploring their genetics as part of family planning, to potentially identify a disease in themselves or a loved one, or to know more about what their hereditary risks may be,” explains Elisa Ross, president of GDF. “There are now more than 10,000 recorded genetic diseases that are passed on through generations, including widely recognized conditions and rare disorders.”

The website consists of three sections:

1) “Genetic Testing & Pregnancy” is for adults/couples who plan to have children and may want to know their risk of carrying gene abnormalities that can be passed on. For example, an infant disease like Tay-Sachs is rare, but members of certain ethnic groups are more likely to carry the gene mutation and may wish to undergo screening (see www.knowyourgenes.org for more details).

2) “Know Your Family History” is a guide to understanding individual family history – how to gather information to tell if you may be at risk for any number of illnesses (like diabetes or heart disease)

3) “What is Genetic Testing?” covers types of tests, their purpose, how they’re conducted, and more.

Additional information includes “Genes 101” on the basics, a list of genetic diseases, how to find a certified genetic counselor, and a quiz to help determine who should be tested. Cost and privacy are also addressed.

The site was created partly in response to a survey conducted by GDF, in which the majority of respondents said they saw benefit to genetic testing, but nearly 80% said they’d never talked with their doctor about genetic screening.

GDF would like to encourage more conversations between doctors and patients about genetic testing and more visits to genetic counselors.

“We believe that number can change if people are more informed about the potential benefits of ‘knowing their genes,’” said Ms. Ross. “All of us at the GDF have had personal experience with genetic disease, and we’re pleased to bring this resource to help people understand how genetic advances can help them manage their health.”

For more information, visit www.KnowYourGenes.org.

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, education and the prevention of genetic diseases.

The Genetic Disease Foundation is affiliated with the Mount Sinai School of Medicine’s Department of Genetics and Genomic Sciences, whose faculty lead the country in clinical research to improve prenatal diagnosis, carrier screening, genetic counseling methods, and therapies for genetic diseases.

CONTACT:

Sue Preziotti, 917-647-1590
Lorie Broser, 917-589-4876

Visit the site

The New York Times delves into this topic with a recent article by John Tierney. Tierney also cited another study, published in Health Economics, in which researchers found most participants were willing to take a test even if didn’t perfectly predict their risks for disease. About 70 percent of the respondents were willing to take even an imperfect test for genetic risks of Alzheimer’s, and more than three-quarters were willing to take such tests for arthritis, breast cancer and prostate cancer.

Read the full article