Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Drug therapy for phenylketonuria reverses heart damage

A pricy drug used to treat a rare but well-known genetic disorder may hold wider promise as a treatment for millions of Americans with potentially lethal enlarged hearts, due mainly to high blood pressure, a study from Johns Hopkins shows.

13 May 2008

Human protein may offer novel target for blocking HIV infection

A research group supported by the National Institutes of Health (NIH) has uncovered a new route for attacking the human immunodeficiency virus (HIV) that may offer a way to circumvent problems with drug resistance. In findings published today in the online edition of the Proceedings of the National Academy of Sciences, the researchers report that they have blocked HIV infection in the test tube by inactivating a human protein expressed in key immune cells.

29 Apr 2008

Gene therapy restores vision in patients with rare congenital blindness

In a clinical trial at The Children's Hospital of Philadelphia, researchers from The University of Pennsylvania have used gene therapy to safely restore vision in three young adults with a rare form of congenital blindness.

27 Apr 2008

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Recordati announced the submission to the U.S. FDA by Orphan Europe (a Recordati group company) of an Original New Drug Application (NDA) for Carbaglu (carglumic acid).

21 Apr 2008

Boys are twice as likely as girls in the U.S. and Asia to receive growth hormone

Boys are twice as likely as girls in the U.S. and Asia (mostly Japan) to receive recombinant human growth hormone (rhGH) for growth hormone deficiency, illnesses that affect height, and short stature of a non-medical nature.

17 Apr 2008

Discovery of critical detail of cellular defense against genetic mistakes

Researchers are closing in on a completed diagram of how human cells protect themselves against constant genetic mistakes that contribute to most diseases, according to a study to be published in the April 18 edition of the journal Cell.

17 Apr 2008

Rare genetic syndrome may hold key to cure for heat stroke

A genetic disorder that can cause a fatal rise in body temperature in some patients undergoing general anesthesia may hold the key to a cure for heat stroke, according to research published in the April 4 edition of the journal Cell.

4 Apr 2008

Potential new treatments for polycystic kidney disease

A family of small molecules called CFTR inhibitors show promising effects in slowing the progression of polycystic kidney disease (PKD), the most common genetic disease of the kidneys, according to preliminary research reported in the July 2008 issue of the Journal of the American Society Nephrology.

3 Apr 2008

Naglazyme approved in Japan

BioMarin Pharmaceutical Inc. has announced that AnGes MG, Inc. (AnGes), BioMarin's marketing and distribution partner in Japan, has received approval for its Marketing Application for Naglazyme(R) (galsulfase) from the Japanese Ministry of Health, Labour and Welfare (MHLW) for the treatment of patients with Mucopolysaccharidosis VI ( MPS VI).

1 Apr 2008

Wistar Institute shares cell lines

Cell lines developed by scientists at The Wistar Institute in Philadelphia have recently been made available to researchers around the globe through the catalog collection at the Coriell Institute for Medical Research of Camden, N.J.

26 Mar 2008

Research to lead to brain tumor therapies

Unique human in vitro model (cell culture) research currently underway at the Peninsula Medical School in the South West of England is set to identify and develop therapies for the treatment of multiple tumours in the brain.

25 Mar 2008

How humans make up for an 'inborn' vitamin C deficiency

A new study appears to explain how humans, along with other higher primates, guinea pigs and fruit bats, get by with what some have called an “inborn metabolic error”: an inability to produce vitamin C from glucose.

24 Mar 2008

Deadly genetic disease prevented before birth in zebrafish with genetic patch

By injecting a customized "genetic patch" into early stage fish embryos, researchers at Washington University School of Medicine in St. Louis were able to correct a genetic mutation so the embryos developed normally.

24 Mar 2008

Europeans can now check out on-line the credentials of laboratories offering genetic tests

Over the last two years, EuroGentest, an EU-funded project, has collated in-dept data on the majority of the 1500 + laboratories involved in Member and associated EU States. This data is now freely searcheable as part of the new version of Orpha.net, the leading public portal for rare disease information launched today.

19 Mar 2008

At home genomic tests for disease risk may be premature

The recent marketing of "at home" genomic tests for disease risk may be premature, according to Dr. Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center (MSKCC).

19 Mar 2008

New understanding of rare immune disorder called Job's syndrome

Scientists have made another major breakthrough--the second in the past year--in understanding a rare immune disorder called Job's syndrome.

18 Mar 2008

Warnings over DIY health tests

Leading health experts in Britain have expressed their concern about the boom in tests and scans for the "worried well".

12 Mar 2008

Structure reveals how cells 'sugar-coat' proteins - process essential to many proteins' functions can lead to disease when gone awry

Biologists at the U.S. Department of Energy's Brookhaven National Laboratory, Stony Brook University, and the University of Wurzburg, Germany, have deciphered the structure of a large protein complex responsible for adding sugar molecules to newly formed proteins - a process essential to many proteins' functions.

11 Mar 2008

Portable DNA sensors

A researcher at the National University at San Diego has taken a mathematical approach to a biological problem - how to design a portable DNA detector.

11 Mar 2008

Bardet-Biedl syndrome provides clues on obesity, blood pressure

University of Iowa researchers have found a clue about how resistance to the hormone leptin might disrupt the brain signals that tell the body when to stop eating.

4 Mar 2008