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.

Cause of severe pediatric epilepsy disorder discovered

Researchers at the University of California, San Diego School of Medicine have discovered that convulsive seizures in a form of severe epilepsy are generated, not on the brain's surface as expected, but from within the memory-forming hippocampus.

16 Mar 2009

First treatment for muscular dystrophy a step closer

Genetic researchers at Children's National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of "multiple exon-skipping" to curb the devastating effects of Duchenne muscular dystrophy in an animal larger than a mouse.

16 Mar 2009

Immune cells play surprising role in cystic fibrosis lung damage

Immune cells once thought to be innocent bystanders in cystic fibrosis may hold the key to stopping patients' fatal lung disease.

16 Mar 2009

Researchers look at genetic dynamics of inbreeding depression

Researchers have taken a first look at the broad genetic changes that accompany reproductive declines in inbred populations.

12 Mar 2009

Launch of new foundation for Batten disease

Leading scientists, medical researchers and affected families joined together today to launch Beyond Batten Disease Foundation, an organization committed to finding a cure for this rare disease that claims the lives of children.

4 Mar 2009

Prenatal molecular diagnosis for tuberous sclerosis complex

Geneticists from Boston University School of Medicine (BUSM) have reported the world's first series of cases of prenatal diagnosis for women at risk of having a child with tuberous sclerosis complex (TSC).

2 Mar 2009

Discovery of new potential therapeutic target for Barth Syndrome

Researchers at NYU Langone Medical Center may have discovered a new targeted intervention for Barth Syndrome (BTHS).

2 Mar 2009

Possible new methods to enhance the success rate of fertility treatments

As hopeful moms-to-be learn, there are important considerations to the successful implantation of a fertilized human egg.

2 Mar 2009

New insights into human genetic makeup

Genetic diseases and genetically mixed populations can help researchers understand human diversity and human origins according to a Penn State physical anthropologist.

16 Feb 2009

Researchers give mutants another chance

Researchers at Fox Chase Cancer Center have demonstrated that it might be possible to treat genetic diseases, including some forms of cancer, by "rescuing" the misshapen, useless proteins produced by some mutant genes.

11 Feb 2009

2 genes influence social behavior, visual-spatial performance in people with Williams syndrome

Unraveling the genetics of social behavior and cognitive abilities, researchers at the University of Utah and the Salk Institute for Biological Studies have traced the role of two genes,GTF2I and GTF2IRD, in a rare genetic disorder known as Williams Syndrome.

11 Feb 2009

FDA grants priority review of Cinryze C1 inhibitor as treatment for acute attacks of hereditary angioedema

ViroPharma Incorporated has announced that the U.S. Food and Drug Administration (FDA) has granted priority review for Cinryze C1 Inhibitor (human) as a treatment for acute attacks of Hereditary Angioedema (HAE).

5 Feb 2009

New findings raise questions about process used to identify experimental drug

A study by National Institutes of Health (NIH) researchers has revealed surprising new insights into the process used to initially identify an experimental drug now being tested in people with cystic fibrosis and muscular dystrophy.

3 Feb 2009

New CDC study assesses impact of genetic testing on health outcomes

Some genomic tests developed to personalize medical decisions about cancer care are beneficial, while for others the evidence is uncertain and reliance on the test might even lead to poorer medical management of cancer in some cases, according new recommendation statements from an expert panel.

2 Feb 2009