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.

Early marker for autism found in the placenta

A team from Yale School of Medicine have found an abnormality in the placenta which could be the first indication of autism and they believe the discovery could lead to a diagnosis of the condition at birth, rather than the standard age of two or older.

27 Jun 2006

New test spares couples with familial cancer the trauma of termination

A new way of sparing couples the trauma of having to decide between having a baby with a high risk of developing a form of colorectal cancer later in life, or terminating the pregnancy, will be revealed on Tuesday, 20 June 2006.

19 Jun 2006

Discovery of gene behind iron accumulation in brain has implications for Parkinson's, Alzheimer's

Oregon Health & Science University researchers have identified the gene behind a group of rare, progressive childhood disorders caused by an abnormal buildup of iron in the brain.

18 Jun 2006

Men have a biological clock too and produce poor quality sperm as they age

Researchers in the U.S. say that even though men are able to father children well into old age, the quality of the sperm declines as men age.

6 Jun 2006

Heel prick test can cause unnecessary parental stress

Virtually all babies in the U.S. have their heels pricked soon after birth to get a blood sample for genetic testing.

5 Jun 2006

Comprehensive care for complex, high-risk pregnancies

As many as 3 percent of all pregnancies result in the birth of a baby with chromosomal anomalies like Down syndrome or structural anomalies such as congenital heart disease.

23 May 2006

Sperm donor passes rare dangerous disease on to four children

According to a new report in the U.S., a sperm donor may have unwittingly passed an extremely rare and dangerous genetic ailment to five children born to four couples.

22 May 2006

Full year of treatment with pyrimethamine and sulfadiazine helps infants and children with toxoplasmosis

The first long-term study shows that treatment with pyrimethamine and sulfadiazine (two anti-parasitic drugs) during the first year of life leads to a lasting reduction in brain and eye damage for children with congenital toxoplasmosis.

16 May 2006

NYU pediatric neurosurgeon reports on 25 children with tuberous sclerosis

Sadly, none of the treatments for epilepsy - anti-seizure medications, a procedure called vagus nerve stimulation, a special diet - could quell the electrical storms in the young boy's brain.

8 May 2006

New approaches to genetic disease, based on cells' own ability to correct themselves

New approaches to genetic disease, based on cells' own ability to correct themselves, will be outlined today at the annual conference of the European Society of Human Genetics in Amsterdam, The Netherlands.

8 May 2006

New drug to treat rare Pompe disease gets FDA approval

The Food and Drug Administration in the U.S. has given approval for the first drug to treat a rare, debilitating muscle disease that can kill infants within a year.

1 May 2006

First gene therapy human trial in the United States for a form of muscular dystrophy under way

The clinical trial for Duchenne muscular dystrophy (DMD) tests the safety and effectiveness of a therapy that was developed over two decades by scientists at the University of North Carolina Chapel Hill's School of Medicine and the University of Pittsburgh.

16 Apr 2006

Dealing with children's misbehavior

When children's misbehavior or delinquency creates problems, it's not enough to deal with the children alone. Mental health professionals recommend behavioral parent training as well, reports the April issue of Harvard Mental Health Letter.

11 Apr 2006

Lubricin research points to future therapies for osteoarthritis

New evidence to explain how the body's natural joint lubricant prevents the wear and tear that can lead to osteoarthritis has been uncovered by researchers at Duke University's Pratt School of Engineering.The findings may lead to new methods for treating arthritis, the researchers said.

11 Apr 2006