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.

Evolutionary connection between food supply and brain size

In a study of orangutans living on the Indonesian islands of Borneo and Sumatra, scientists from Duke University and the University of Zurich have found what they say is the first demonstration in primates of an evolutionary connection between available food supplies and brain size.

23 Oct 2006

Popular ADHD drug Ritalin safe and effective for pre-schoolers

A new study by researchers from the Johns Hopkins Children's Center and five other medical centers concludes that carefully measured, low doses of methylphenidate (Ritalin) are safe and effective for attention-deficit and hyperactivity disorder (ADHD) in preschoolers.

23 Oct 2006

PGC-1 alpha implicated in Huntington's disease neurodegeneration

A metabolic disorder underlies the brain effects found in those with Huntington's disease, researchers report in an advance article publishing online October 19, 2006. The article will appear in the November 2006 issue of the journal Cell Metabolism, published by Cell Press.

20 Oct 2006

Protection for nerve cells - eating up defective proteins

Nerve cells in the Central Nervous System can defend against and recover from damage by proteinlike clusters which are associated with neurodegenerative diseases such as Huntington's Chorea.

13 Sep 2006

New York Times examines debate over preimplantation genetic diagnosis

The New York Times on Sunday examined the debate over preimplantation genetic diagnosis, a technique that allows physicians to identify embryos without genetic defects or chromosomal abnormalities and then implant the embryos most likely to result in a live, healthy infant.

5 Sep 2006

Researchers identify genetic risk for type 1 diabetes

A discovery at the Barbara Davis Center for Childhood Diabetes has identified a genetic risk for type 1 diabetes three to four times higher than previously thought possible.

4 Sep 2006

Link between morbid obesity in toddlers and lower IQ scores

University of Florida researchers have discovered a link between morbid obesity in toddlers and lower IQ scores, cognitive delays and brain lesions similar to those seen in Alzheimer's disease patients, a new study shows.

4 Sep 2006

Prenatal diagnostic tests have low risk of miscarriage

Pregnant women who seek prenatal diagnostic testing to identify genetic or chromosomal abnormalities have a lower risk of miscarriage than previously believed, according to a UCSF study.

31 Aug 2006

A wake-up call for parents of children with sleep apnea

In what is believed to be the first study showing neural changes in the brains of children with serious, untreated sleep apnea, Johns Hopkins researchers conclude that children with the disorder appear to suffer damage in two brain structures tied to learning ability.

31 Aug 2006

Largest review of Loeys-Dietz syndrome to date

At least three severe, potentially fatal genetic diseases leave patients with aortas so flimsy that they can rupture in pregnancy and labor or even lesser activities, often without warning.

31 Aug 2006

U.S. research challenges Bush over embryonic stem-cell research

Researchers in the U.S. appear all set to challenge President Bush's stand over the issue of embryonic stem-cell research.

24 Aug 2006

Rett syndrome can also strike males

The common thinking in the past had been that Rett syndrome only affects girls.

8 Aug 2006

Prospective Huntington At Risk Observational Study

Doctors have completed the first step of a unique medical research study, evaluating 1,001 individuals at risk of developing Huntington's disease who do not know - nor do they want to know - whether they carry the genetic defect that causes the condition.

8 Aug 2006

Atp7a determines a hierarchy of copper metabolism essential for notochord development

A new study reveals the timing of developmental events that critically depend on copper. While copper deficiency is rare in humans, the findings suggest that suboptimal copper metabolism might contribute to birth defects, according to the researchers.

8 Aug 2006

New way of delivering corrective genes holds promise for hereditary diseases of the heart

A new way of delivering corrective genes with a single injection into a vein holds promise for long-lasting treatments of hereditary diseases of the heart, University of Florida researchers report.

6 Aug 2006

Researchers determine why gene therapy treatment caused leukemia in some X-linked severe combined immunodeficiency patients

Scientists at St. Jude Children's Research Hospital have developed a mouse model of a severe disease of the immune system that helps explain why gene therapy used to treat children with this disease at an institution in Europe caused some of them to develop leukemia.

2 Aug 2006