Genetic Disease Foundation » Disease News

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.

FDA Approved Drug Shows Promise for Treating WHIM Syndrome

GDF — Fri, 30 Sep 2011 19:14:53 +0000

A new study reports that plerixafor, a drug already approved by the Food and Drug Administration for use in patients undergoing a bone marrow transplant, may also have promise for treating people who have WHIM syndrome, a rare immune deficiency. People with the syndrome are more susceptible to potentially life-threatening bacterial and viral infections, particularly human papillomavirus infections, which cause skin and genital warts and can lead to cancer.

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

Genome Analysis of Unborn Children Shows Promise

GDF — Fri, 17 Dec 2010 15:51:26 +0000

MIT’s Technology Review writes about a new study, recently documented in the journal Science Translational Medicine, that presents a new way to map the genome of an unborn child using DNA from the mother’s blood. The technique is notable because it shows potential for broad genetic testing without risk to the fetus. While far too expensive to be put into practice now, the research is important because it shows that the fetus’s entire genome is present in the mother’s blood.

NIH Announces Plans for a Voluntary Genetic Test Registry

GDF — Fri, 19 Mar 2010 03:58:35 +0000

The National Institutes of Health has announced that it will establish a voluntary genetic test registry and encourage genetic test providers to share information about the availability and utility of their tests.

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

Genetic Testing Curbs Some Genetic Diseases

GDF — Thu, 18 Feb 2010 16:05:54 +0000

According to research by The Associated Press, several of mankind’s most devastating inherited diseases appear to be in decline or have nearly disappeared entirely. The cause is believed to be related to increased use of genetic testing by people deciding whether or not to have children.

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

New Concerns for Carriers of Genetic Diseases

GDF — Thu, 18 Feb 2010 04:46:19 +0000

The weekend edition of the Wall Street Journal included an article calling attention to the fact that many people who carry genes for particular diseases can be affected in unexpected ways. The article noted an increased incidence of Parkinson’s disease among carriers for Gaucher and frequent neurodegenerative problems among carriers for fragile X syndrome.

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)

Social Security Compassionate Allowances Program Expanded

GDF — Thu, 11 Feb 2010 15:24:12 +0000

Earlier today Social Security Commissioner Michael Astrue announced the expansion of Social Security’s “Compassionate Allowances” program, which provides expedited review of disability applications from people with severely disabling conditions.

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

SCID Recommended for Universal Newborn Screening

GDF — Mon, 01 Feb 2010 18:42:35 +0000

The Advisory Committee for Heritable Disorders in Newborns and Children, which provides advice and recommendations on universal newborn screening to the Secretary of the U.S. Department of Health and Human Services, has voted to recommend the addition of Severe Combined Immunodeficiency (SCID) to the uniform newborn screening panel.

SCID is a group of disorders characterized by the absence of an immune system, causing infants with SCID to develop recurrent infections, leading to death in early childhood. Treatment in the first months after birth can prolong life and prevent infections.

Six conditions have been brought to the Advisory Committee since its initial recommendations were made in 2005: SCID, Fabry Disease, Krabbe Disease, Niemann-Pick Disease, Pompe Disease, and Spinal Muscular Atrophy (SMA). Thus far, only SCID has been recommended to be added to the uniform newborn screening panel. By law, the Secretary of Health and Human Services must respond to the recommendation within 180 days.

Source: Genetic Alliance

Legislation to Strengthen NY’s Newborn Screening Program

GDF — Thu, 28 Jan 2010 03:37:43 +0000

New York State Senators Dean Skelos and Kemp Hannon announced yesterday that they have introduced legislation (S.6656) to strengthen New York State’s Newborn Screening Program by adding Pompe disease (an often fatal neuromuscular disorder which is a highlighted in the new Harrison Ford film, “Extraordinary Measures”), Fabry disease, Niemann-Pick disease, Gaucher disease, and Severe Combined Immunodeficiency Disease (SCID) to the list of neonatal tests required in New York State. Early detection and treatment are critical for babies afflicted with these diseases, which can be debilitating and deadly if undiagnosed.

Since the program was introduced in 1965 over 40 disorders have been added to the screening test, which involves a collecting blood from a heel prick with a small needle.

More information on the New York State Newborn Screening Program is available on the New York State Department of Health’s Wadsworth Center website. Learn more about newborn screening tests on the March of Dimes website.

Source: NewsLI.com

Pfizer to Enter Market for Rare Diseases

GDF — Fri, 04 Dec 2009 19:54:49 +0000

Pfizer, the world’s largest drug company, said Tuesday that it had licensed the worldwide rights to a treatment for Gaucher disease, a rare genetic disorder, from Protalix Biotherapeutics, an Israeli biotechnology company. “This is the first step in the pursuit of a formal strategy around orphan drugs and rare diseases,” David Simmons, president of Pfizer’s established products business unit, said in an interview.

Pfizer joins GlaxoSmithKline and Novartis in the market for rare diseases. This past October, Prosensa, a Dutch company, to joined up with GlaxoSmithKline to develop drugs for Duchenne muscular dystrophy and in June, Novartis won approval from the FDA to sell its drug Ilaris as a treatment for cryopyrin-associated periodic syndrome.

Source: The New York Times