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.

New view of what causes greatest genetic variability among individuals

A study by Yale researchers offers a new view of what causes the greatest genetic variability among individuals - suggesting that it is due less to single point mutations than to the presence of structural changes that cause extended segments of the human genome to be missing, rearranged, or present in extra copies.

27 Sep 2007

Scientists produce equivalent of test-tube inner ear hair cells

Birds, fish and amphibians can do something that humans and other mammals generally cannot: re-grow damaged or lost inner ear hair cells.

27 Sep 2007

Biologists link Huntington's disease to health benefits in young

For years researchers in neurology have believed that people with Huntington's disease have more children than the general population because of behavioral changes associated with the disease that lead to sexual promiscuity.

26 Sep 2007

Noninvasive prenatal testing by analyzing mother's blood

Currently, prenatal diagnosis of genetic diseases and genetic monitoring of fetal development require invasive procedures.

21 Sep 2007

Researchers question genetic screening programs

The study by a team at Shaare Zedek Medical Centre in Jerusalem, is the first to examine what couples actually did when they learned their unborn child had a condition called Gaucher disease, an inherited condition which can be effectively treated.

20 Sep 2007

Study examines implications of genetic screening for disease that can be less serious, treatable

Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings, according to a study in the September 19 issue of JAMA.

18 Sep 2007

Powerful new discovery method speeds up gene discovery

Scientists will be able to pinpoint genetic causes of human diseases faster than ever thanks to a powerful new discovery method unveiled by the Southwest Foundation for Biomedical Research (SFBR) and an international team of researchers.

17 Sep 2007

Benefits and risks of breastfeeding

Extensive medical research shows that mothers' milk satisfies babies' nutritional needs far better than any manufactured infant formula.

17 Sep 2007

Screening all babies for high cholesterol could save many lives

Doctors in the UK say in order to reduce the number of people suffering from heart disease children as young as 15 months should be screened for high cholesterol.

17 Sep 2007

New insights into retinal growth

Peering at microscopic changes within the retina, scientists in the Department of Ophthalmology at Weill Cornell Medical College in New York City, have discovered a key mechanism driving eye health and eye disease.

12 Sep 2007

Rochester receives $1.2 million to battle rare childhood disease

"For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers."

12 Sep 2007

New discovery for Fragile X Syndrome

An important finding has been made by McMaster researchers about Fragile X Syndrome (FXS), a sex-linked genetic disorder that affects approximately one in 4,000 males and one in 6,000 females.

11 Sep 2007

Mutations in the insulin gene can cause permanent neonatal diabetes

Mutations in the insulin gene can cause permanent neonatal diabetes, an unusual form of diabetes that affects very young children and results in lifelong dependence on insulin injections, report researchers from the University of Chicago and Peninsula University (Exeter, UK) in Sept. 18, 2007, issue of the Proceedings of the National Academy of Sciences, published early online.

11 Sep 2007

Myoendothelial cells identified as new human source of stem cells with potential to repair muscle

For the first time, scientists at Children's Hospital of Pittsburgh of UPMC have discovered a unique population of adult stem cells derived from human muscle that could be used to treat muscle injuries and diseases such as heart attack and muscular dystrophy.

5 Sep 2007

Autoimmune response, triggered by genes, can be a barrier to producing a viable offspring

Plant biologists at the Max Planck Institute of Developmental Biology and the University of North Carolina at Chapel Hill have discovered that an autoimmune response, triggered by a small number of genes, can be a barrier to producing a viable offspring.

4 Sep 2007