Genetic Disease Foundation » General News

Legislation for Rare Diseases Introduced

Chris McBride — Wed, 18 Aug 2010 04:43:59 +0000

Earlier this August, Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) introduced the Creating Hope Act of 2010 (S 3697), which aims to promote the development of therapeutics for rare diseases. The bill is aimed at providing incentives to pharmaceutical companies for the development of treatments for rare diseases. It would create a “priority review voucher” for companies that develop new rare disease drugs and biologics. Companies could use these vouchers to receive expedited review by the FDA of other drugs under development.

Source: Genetic Alliance

Genetics Day on the Hill

Chris McBride — Sat, 10 Jul 2010 17:48:04 +0000

This Thursday, July 15, the Genetics Alliance, a nonprofit health advocacy organization, is leading the fifth annual Genetics Day on the Hill, a day of advocacy where disease advocacy organizations, health professionals, researchers, industry representatives, families and students meet with elected officials to help educate them on important issues related to health and genetics.

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.

National Library of Medicine Launches New Mobile Service

GDF — Thu, 28 Jan 2010 13:00:40 +0000

The NIH’s National Library of Medicine, the nation’s largest medical library, recently announced the release of Mobile MedlinePlus (http://m.medlineplus.gov), a complement to its MedlinePlus Internet service (http://medlineplus.gov), which provides authoritative consumer health information to over 10 million visitors per month.

Mobile MedlinePlus is available in English and Spanish (http://m.medlineplus.gov/spanish) and includes a subset of content from the full Web site. It includes summaries for over 800 diseases, wellness topics, the latest health news, an illustrated medical encyclopedia, and information on prescription and over-the-counter medications. The mobile site includes information about many genetic diseases including Gaucher, Prader-Willi Syndrome and Tay-Sachs.

Learn more about the service on the National Institutes of Health website.

FDA Unveils Transparency Initiative

GDF — Thu, 28 Jan 2010 02:10:53 +0000

Earlier this month the Food and Drug Administration unveiled the first phase of its Transparency Initiative, a new program designed to help explain how the agency operates, makes decisions, and approves drugs. This marks the first phase of FDA Commissioner Margaret Hamburg’s plan enhance the transparency of the FDA’s operations and decision-making processes. “This initiative will make information about the FDA more user-friendly and accessible to the public,” said Dr. Hamburg. “It fosters a better understanding about what we do.”

The initiative includes the launch of FDA Basics, a new website created to help the public better understand what the agency does. In the future the Commissioner’s Transparency Initiative task force will make recommendations on how to make information about agency activities more transparent, useful, and understandable to the public and how to improve the FDA’s transparency to regulated industries.

Find out more on the FDA website.

An Unusual and Inspiring Canavan Disease Discovery

GDF — Wed, 30 Dec 2009 19:04:10 +0000

From the December issue of New Jersey Magazine comes the inspiring story of Dee and Jim White who, after working with 10 doctors over the course of three years, learned that their two young daughters had Canavan Disease, a fatal neurological brain disorder. While most children affected with Canavan Disease suffer devastating symptoms at an early age, the White girls, age 6 and 9, lead happy, active lives.

It turns out that the White girls’ case is unusual because of their unique genetic makeup. The girls’ mother, Dee, has a never before seen gene mutation that could help lead to the discovery of a cure. Dr. Paola Leone, director of the Cell & Gene Therapy Center at the University of Medicine and Dentistry at New Jersey’s School of Medicine is working with the sisters’ genetic material to determine which genetic or biochemical mechanisms are responsible for their good health, in hopes of recreating it in other Canavan patients.

Read the full story at New Jersey Magazine.

Federal Genetic Nondiscrimination Law Now in Effect

GDF — Tue, 08 Dec 2009 04:52:35 +0000

Federal regulations implementing the Genetic Information Nondiscrimination Act (GINA) are in effect as of today, December 7, 2009. According to the Genetics and Public Policy Center:

GINA prevents health insurers from denying coverage or adjusting premiums on the basis of genetic information, or requesting that an individual undergo a genetic test. Employers are prohibited from using genetic information to make hiring, firing, or promotion decisions. The law also sharply limits an employer’s right to request, require, or purchase an employee’s genetic information.

Even though the rules are now in effect, public comments are being accepted through Jan. 5, 2010 and the government agencies responsible for GINA can change the rules after that date to reflect the information received.

To learn more visit the Genetics and Public Policy Center or the Know Your Genes website.

Genetic Testing Reveals Devastating Illness (NPR)

GDF — Mon, 23 Nov 2009 15:38:05 +0000

This morning on NPR’s Morning Edition we listened to the story of Charles Sabine, a former war correspondent for NBC, who discovered four years ago that he has the gene for Huntington’s Disease. Sabine had watched his father suffer tremendously from Huntington’s and had for years put off having a genetic test that would tell him if he would share the same fate.

While the 49 year old Sabine hasn’t had any problems yet, he says, “Not an hour goes by when I don’t watch myself for symptoms. Every time I take the dogs out for a walk, I wonder if this is the first time that I’m going to trip, and my coordination has started to fade. Not an hour goes by when I don’t picture how my life will drain away.”

Though he clearly struggles with what his future holds, he remains optimistic and dedicated to getting the word out about Huntington’s Disease and genetic testing. “It might be too late for me, but I might be able to provide the testing ground to find something that can prevent this awful disease affecting generations to come.”

You can listen to Charles’s story on the NPR website. To learn more about genetic testing options visit Know Your Genes website.

John Crowley’s Extraordinary Measures

GDF — Mon, 28 Sep 2009 16:29:29 +0000

Earlier this year filming started on “Extraordinary Measures,” a new movie about the true story of John and Aileen Crowley, whose children were diagnosed at a young age with Pompe Disease, a rare lysosomal storage disorder. The story follows John Crowley (played by Brendan Fraser) as he leaves his job as a high paid executive to seek a treatment for Pompe with the help of a maverick scientist (played by Harrison Ford). The film is expected to be released April 2010.