• disease gene discovery
• analysis of gene expression (number of copies of all genes made in normal and diseased cells)
• analysis of the elements that control gene expression, as well as the ability to sequence a person’s whole genome

Already, both machines are working at full capacity and have dramatically increased the department’s capabilities. With this purchase Mount Sinai will be one of only four research institutions in the country with this level of sophisticated equipment allowing the department to expand further into the field of genomics.

Special thanks go to Andrea Trombino for organizing an amazing event at Suppa’s Restaurant and the Comedy Shoppe in Pine Brook, NJ. About one hundred friends and family of the GDF gathered to share laughs, drinks and great food.

Thank you to everyone who supported our Know Your Genes, Know Your Zone charity ride. Ride the Zone, New York’s premiere indoor cycling studio, was an incredible location for this wildly successful event. The event raised over $44,000, exceeding everyone’s wildest expectations. We are so thankful to everyone who rode, sponsored and/or cheered on the riders. Special thanks to GDF Board Member Carrie Green for leading this effort!

Source: Genetic Alliance

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.

On Wednesday, June 16, 2010 the Catherine Malandrino‘s Meatpacking District boutique generously hosted an evening of shopping to benefit the Genetic Disease Foundation. Shoppers enjoyed cocktails and made purchases from the store’s Spring and Summer line and 10% of proceeds went to the GDF.

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.