Participants will visit the offices of their elected officials to discuss key issues including public engagement in clinical research, public access to federally funded research results and genetic testing oversight. Participants will share personal and corporate stories about what is important to them and their families, work, and communities in the context of these issues.

To learn more visit the Genetic Alliance website.

Enacted in 2008 after 13 years of debate in Congress, GINA limits health insurers from using a person’s genetic information to set eligibility requirements, or establish premium or contribution amounts. The law also prohibits employers from using genetic information in decisions about hiring, firing, job assignments or promotions.

“Almost every day, our center is asked for more detailed information about what GINA means,” said Joan Scott, director of the Genetics and Public Policy Center. “These targeted materials will go a long way towards answering the questions that still exist, paving the way for successful, long-term implementation of this important law.”

The user-friendly materials will help health-care providers and members of the public understand their rights and responsibilities under the law and provide essential information about its details. The documents are also clear about what GINA doesn’t cover.

The public-oriented materials – including an interactive website, “GINA & You” information sheet, and slide set for advocacy organizations – are available, at http://www.GINAHelp. org, in the Genetic Alliance Resource Repository, and on Genetic Alliance’s website, http://www.geneti calliance.org. The website also includes a history of GINA’s long struggle and passage.

“The public has waited a long time for these protections, and by providing this information as a resource we are helping individuals become informed consumers of genetic services,” said Sharon Terry, president and CEO of Genetic Alliance.

The materials for health-care providers include background documents, a discussion guide suggesting how and when to talk about GINA with patients, a teaching slide set, and case studies that describe how the law works in a variety of real-world, clinical settings. These materials are available on the website for the National Coalition for Health Professional Education in Genetics (NCHPEG), at http://www.nchpeg.org.

“We’ve heard many questions already from health- care providers about the specifics of GINA,” said Joseph McInerney, NCHPEG’s executive director. “Especially as genetic testing becomes more common and the value of family history more apparent, there’s a real need for these materials to reassure providers and patients alike that GINA supports excellent clinical care.”

The Genetics and Public Policy Center (GPPC), part of the Johns Hopkins Berman Institute of Bioethics, will have all of the materials on its website, at http://www.dnapolicy.org. The GPPC’s site also includes FAQs and other fact sheets about GINA aimed at a general audience.

Please join us on Wednesday, June 16, 2010 at Catherine Malandrino’s Meatpacking District boutique for an evening of shopping to benefit the Genetic Disease Foundation.

Guests will enjoy 20% off all full priced merchandise for the evening and 10% of all proceeds will be donated to the GDF.

Cocktails will be served.

Catherine Malandrino
652 Hudson Street
New York, NY 10014
212-929-8710

RSVP to meatpacking@catherinemalandrino.com.

A U.S. research team examined gene variations across the human genome and found that about 9 percent of those with late-onset Alzheimer’s had a specific variation in the gene MTHFD1L on chromosome 6, according to the study. Only about 5 percent of those who did not have Alzheimer’s had the variant. Late-onset Alzheimer’s, which affects those 60 and up, is the most common form of the brain disorder.

With the number of people with Alzheimer’s expected to nearly double from 18 million worldwide to 34 million by 2025, according to the World Health Organization, researchers have been hunting for genes that play a role in Alzheimer’s disease. The hope is that understanding the function of the genes could help in developing better treatments, which are sorely lacking.

While lots of genetic variants have been singled out as possible contributors to Alzheimer’s, the findings often can’t be replicated or repeated, leaving researchers unsure if the results are a coincidence or actually important, said Dr. Ron Peterson, director of the Mayo Alzheimer’s Disease Research Center in Rochester, Minn.

“The strength of his study is it includes a large number of subjects, they looked at a large number of [DNA sequence variations], and they replicated previously reported findings, which gives you confidence that they are correct,” Peterson said.

Source: HealthDay

Genetic tests are available now for more than 1,600 conditions, and can form the basis for decisions about disease treatment and prevention, and whether or not to have children. An increasing number of tests are available directly to the consumer.

The Genetic Test Registry is expected to be available in 2011. For more information the NIH website.

Source: The Genetics and Public Policy Center at Johns Hopkins University

Join us at Gotham Comedy Club on Thursday, April 22, 2010 for an evening of comedy to benefit the Genetic Disease Foundation.

Featuring stand up performances by….

Joe Devito
James Smith
Steve Strauss

Doors open at 7pm and the show runs from 8-9:30pm. Gotham Comedy Club is located at 208 West 23rd Street between 7th and 8th Avenues (view map).

Drinks will be available for purchase in the lounge area prior to the show. Food will be available for purchase during show.

Tickets are $50 per person and can be purchased on the Gotham Comedy Club website.

The Associated Press found from interviews with numerous geneticists and other experts and a review of available research that births of babies with cystic fibrosis, Tay-Sachs and other less familiar disorders seem to have dropped since testing has come into wider use.

“We’re definitely seeing decreased rates of certain genetic disorders as a result of carrier screening,” said Dr. Wendy Chung, clinical genetics chief at Columbia University. In five years, she has seen only one case of Tay-Sachs, a neurological disease that used to be more common in Ashkenazi, or Eastern European Jews.

While the decrease in births of children with debilitating disease is widely lauded, some caution that working to completely eliminate disease, “should give us pause.” Barron Lerner, a Columbia University medical historian, wrote recently in the New England Journal of Medicine. “If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?”

Source: Washington Post

According to the article:

When people learn they are carriers for a genetic disease, doctors usually focus on the potential risk of having a child with the disorder. But, increasingly, researchers are finding that being a carrier itself can lead to serious health problems. Although genetic diseases are rare, “we’ve got millions of people out there who are carriers,” says R. Rodney Howell, chairman of the federal Advisory Committee on Heritable Disorders in Newborns and Children.

Source: WSJ (subscription required or search via Google to read the full text)

Sign up by teams of one to four and ride your butts off for an amazing cause. Each team has the opportunity to buy 1, 2, 3, or 4 bikes and decide to ride as a group for 4 hours or break it up into 1-hour intervals by each team member. The purchase price of the bike will go directly to the GDF. All team sign-ups must be returned by Monday, March 1st.

There will be prizes for the teams and individuals who raise the most money:

• Grand Prize (PERSON WHO RAISES THE MOST $ AND RIDES FOR ALL 4 HOURS): Large format vintage champagne and a few other surprises….
• 1st Prize: PRIVATE DINNER FOR 8 with wines selected from Sherry Lehmann’s Cellar.
• 2nd Prize: A bottle of vintage champagne for each team member.
• 3rd Prize: A bottle of hand selected wine from Sherry Lehman for each member.

Please contact Jerriann at jerriann@ridethezone.com or call (212) 327-1217 with any questions.

Time: Saturday, March 6th, 2010, 7:30 a.m. – 11:30 a.m.
Location: Ride The Zone – Upper East Side Studio, 201East 67th Street, 3rd Floor (Corner of 3rd Avenue)

Download the Invite and Forms:

GDF Ride The Zone Invite

GDF Ride The Zone Team Sign Up Form

GDF Ride The Zone Sponsor Form

The program began in 2008 with coverage of 50 diseases, including 25 rare diseases. Beginning in March an additional 38 diseases will be added to the list, including Maple Syrup Urine Disease, Niemann-Pick Type C and Tay Sachs Disease. The Social Security Administration selected the 38 diseases from those recommended during public hearings and review of information submissions from the NIH and disease advocacy organizations. According to the Social Security Administration the list of included diseases will continue to expand over time.

Learn more on the Social Security Administration website.

Source: NORD