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.

A more accurate blood test to detect fetal Downs syndrome launched

Pregnant mothers in the U.S. who wish to know whether they're carrying a fetus with Down syndrome now have access to a commercial genetic blood test that has a 99 per cent accuracy rate.

20 Oct 2011

Alexion third quarter total revenues increase to $204.0 million

Alexion Pharmaceuticals, Inc. today announced financial results for the three and nine months ended September 30, 2011.

20 Oct 2011

RCSI study: Alpha-1 antitrypsin deficiency more prevalent in Ireland

Researchers from the Royal College of Surgeons in Ireland (RCSI), Beaumont Hospital, and Trinity College Dublin have conducted a study which has found that Ireland has one of the highest incidences in the world of a genetic condition that causes severe hereditary emphysema.

20 Oct 2011

Common link between Type 2 diabetes and autism

A review of the genetic and biochemical abnormalities associated with autism reveals a possible link between the widely diagnosed neurological disorder and Type 2 diabetes, another medical disorder on the rise in recent decades.

20 Oct 2011

VEGF protein appears to prevent progression of spinocerebellar ataxia type 1

A protein that promotes the growth of neurons and blood vessels appears to stop the progression of a genetic disease that causes degeneration of the cerebellum, according to new preclinical Northwestern Medicine research published in Nature Medicine.

18 Oct 2011

Researchers demonstrate that iPS stem cells may be used for gene therapy

This research, published on Oct. 12 on the Nature review website, provides evidence of a major concept could pave the way for the future use of these stem cells to treat humans, through perspective gene therapies.

14 Oct 2011

Nature publishes Sangamo's gene correction strategy for A1AT deficiency

Sangamo BioSciences, Inc. (Nasdaq: SGMO) announced the publication of a preclinical study demonstrating highly specific, functional correction of the alpha 1-antitrypsin (A1AT) gene defect in patient-derived induced pluripotent stem cells (iPSCs) using zinc finger nucleases.

14 Oct 2011

NINDS announces grant to support work of Parent Project Muscular Dystrophy

Parent Project Muscular Dystrophy (PPMD), the largest non-profit organization in the United States focused on finding a cure for Duchenne muscular dystrophy (Duchenne), announced that it has received a grant from the National Institutes of Neurological Disorders and Stroke (NINDS), part of the National Institutes for Health.

14 Oct 2011

Skin cell to liver cell shows promise for genetic liver disease

In a new scientific breakthrough, researchers have taken skin cells from a patient with liver disease and turned them into replacement liver cells. Although the procedure is years before it can be used in humans, but if approved, it could launch a new era of personalized therapies for serious genetic disorders.

13 Oct 2011

GeneDx launches new genetic test to accurately diagnose rare diseases

At the joint conference of the American Society of Human Genetics/International Congress on Human Genetics in Montreal on October 12, GeneDx, one of the foremost genetics laboratories in the world and a subsidiary of Bio-Reference Laboratories, Inc., is announcing a first-of-its-kind test that will enable physicians and patients to more accurately identify the genetic cause of rare diseases.

13 Oct 2011

ASHG to honor U of U geneticist with William Allan Award

As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study developmental biology, but his "very Prussian" mother insisted he go to medical school instead.

12 Oct 2011

Isis designates ISIS-AATRx candidate in collaboration with GSK

Isis Pharmaceuticals, Inc. announced today that it has designated the second development candidate, ISIS-AATRx, in its collaboration with GlaxoSmithKline

12 Oct 2011

Rare and severe hypoglycemia could be genetic

The life-threatening condition depicts the fact that the body does not have enough energy to function. Scientists at the University of Cambridge say mutations in the AKT2 gene are to blame. Writing in the journal Science, they say there are already cancer drugs which target a similar process.

10 Oct 2011

Scientists discover rare genetic alteration responsible for hypoglycaemia

Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today, 07 October, in the journal Science.

7 Oct 2011

Novel bipartite gene therapy for retinitis pigmentosa

In a paper published in the October 2011 issue of Experimental Biology and Medicine, a team of researchers at Columbia University Medical Center led by Stephen Tsang, MD, Ph.D have achieved temporary functional preservation of photoreceptors in a mouse model for retinitis pigmentosa (RP) using novel bipartite gene therapy.

1 Oct 2011

UCSF protein researcher wins NIH's Early Independence Award

James Fraser, PhD, a protein researcher who studies structural biology at the California Institute for Quantitative Biosciences (QB3) at the University of California, San Francisco (UCSF), is one of 10 recipients of a prestigious award for young scientists given for the first time by the National Institutes of Health.

1 Oct 2011

Lovastatin appears to be safe, effective for children with neurofibromatosis type 1

Researchers at Children's National Medical Center have found that a cholesterol-lowering statin drug appears to be safe in children with neurofibromatosis type 1 (NF1) and may improve learning disabilities, including verbal and nonverbal memory.

28 Sep 2011

Two computerized tests increase ability to detect remaining vision in patients with RP

Two new computerized tests increase the ability to measure remaining vision in patients with retinitis pigmentosa (RP) and other blinding diseases, reports a study in the October issue of Optometry Vision Science, official journal of the American Academy of Optometry.

27 Sep 2011

Afraxis to participate in NIH's Therapeutics for Rare and Neglected Disease Program

Afraxis, a San Diego-based biotechnology company developing drugs to treat rare genetic diseases through the modulation of p21-activated kinase (PAK), announced today that it has been selected to participate in the National Institutes of Health's (NIH) Therapeutics for Rare and Neglected Disease (TRND) Program.

27 Sep 2011

Afinitor Phase III study on angiomyolipomas associated with TSC meets primary endpoint

A Phase III study of Afinitor (everolimus) tablets in patients with non-cancerous kidney tumors, or angiomyolipomas, associated with tuberous sclerosis complex (TSC) met its primary endpoint of best overall angiomyolipoma response rate, which includes reduction in kidney tumor size and absence of new tumors.

26 Sep 2011