Genetic Disorder News and Research

RSS

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

Should insurance companies have access to genetic test results

There is no good reason to deny insurers access to genetic information, argues a Professor of Ethics in a debate published in the British Medical Journal.

14 Jun 2007

New strategy for treating rare muscle disease, kidney disorders

Based on clues provided by a study with transgenic mice, a research group at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has developed a strategy that will be tested as the first treatment for people with hereditary inclusion body myopathy (HIBM), a rare, degenerative muscle disease.

3 Jun 2007

Once-fatal metabolic disorders treatable

People with a class of rare genetic disorders that often lead to brain damage, coma and death can be successfully treated with drugs, says a researcher at the Stanford University School of Medicine and Lucile Packard Children's Hospital.

1 Jun 2007

Overdiagnosis of congenital long QT syndrome (LQTS)

Congenital long QT syndrome (LQTS) can be lethal if not diagnosed -- yet recent increased awareness of the disorder may lead to diagnosing patients when they don't have the syndrome and then prescribing treatments that restrict patients' lifestyles, a new Mayo Clinic study shows.

1 Jun 2007

Advances in epilepsy treatment

Epilepsy and seizures affect 2.5 million Americans, 181,000 new cases of epilepsy are diagnosed every year, and the disorder incurs an estimated $12.5 billion in annual direct and indirect costs.

1 Jun 2007

Groundbreaking research on type 1 congenital myotonic dystrophy

Each year, the parents of an estimated one in 20,000 newborns are shocked to learn their child has type 1 congenital myotonic dystrophy (CDM1), a progressive and crippling genetic disorder.

24 May 2007

Study of normal brain development

Children appear to approach adult levels of performance on many basic cognitive and motor skills by age 11 or 12, according to a new study coordinated by the National Institutes of Health (NIH).

18 May 2007

Subtle signs can help doctors predict that a person will develop Huntington's disease

Huntington's disease is a genetic disorder that affects movement, thinking, and some aspects of personality. There is no treatment or cure for the disease.

17 May 2007

Researchers discover genetic 'shut down' trigger in healthy immune cells

A fundamental genetic mechanism that shuts down an important gene in healthy immune system cells has been discovered that could one day lead to new therapies against infections, leukemia and other cancers.

10 May 2007

BioMarin starts phase 2a study of 6R-BH4 in sickle cell disease

BioMarin Pharmaceutical has announced that the first patient has initiated treatment in the Phase 2a clinical study of 6R-BH4 (sapropterin dihydrochloride) for the treatment of sickle cell disease (SCD).

4 May 2007

Lawmakers have proposed 'witch's brew' of biotech bills

Lawmakers in recent months "have stirred up a witch's brew of initiatives that is cause for some concern -- not only for the biotech industry, but for all Americans," James Mullen, president and CEO of Biogen and chair of the Biotechnology Industry Organization, writes in a Wall Street Journal opinion piece.

1 May 2007

Zorro-LNA stops genetic disorders in their tracks

A study to appear in the June 2007 issue of The FASEB Journal describes a new agent, called "Zorro-LNA," which has the potential to stop genetic disorders in their tracks.

1 May 2007

New biotech company develops UD-patented technologies for repairing genes

OrphageniX Inc., a new biotechnology company founded by University of Delaware researchers, has been established in Wilmington to develop and commercialize UD-patented technologies for repairing genes that cause rare, hereditary diseases such as sickle cell anemia and spinal muscular atrophy.

25 Apr 2007

Muscle restoration in an animal model of Duchenne muscular dystrophy

Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne's muscular dystrophy (DMD).

24 Apr 2007

New drug offers hope to muscular dystrophy and cystic fibrosis sufferers

Scientists in the United States say an experimental drug may be able to compensate for the genetic error responsible for some cases of Duchenne Muscular Dystrophy (DMD) and cystic fibrosis.

23 Apr 2007

New automated test for gene mutations causing fragile X syndrome

A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome (FXS), the most common inherited form of mental retardation, reports a study in the April issue of Genetics in Medicine, published by the American College of Medical Genetics and Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

19 Apr 2007

New understanding of genetics behind Noonan Syndrome

Researchers have discovered that the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS) produces an imbalance in the genesis of two types of cells in the developing embryonic brain.

19 Apr 2007

Rhythmic motion of the lungs clears bacteria

While working to find novel ways to treat the life-threatening disease of cystic fibrosis, researchers at the University of North Carolina have discovered that the rhythmic motion of the lungs during normal breathing is a critical regulator of the clearance of bacteria and other noxious materials.

16 Apr 2007

Analysis of Rhesus monkey genome provides new clues to primate biology

An international consortium of researchers has published the genome sequence of the rhesus macaque monkey and aligned it with the chimpanzee and human genomes.

12 Apr 2007

Female stem cells work better

Female stem cells derived from muscle have a greater ability to regenerate skeletal muscle tissue than male cells, according to a study at Children's Hospital of Pittsburgh of UPMC.

10 Apr 2007