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Latest Genetic disorder Stories

2011-06-15 22:24:31

When Noah and Alexis Beery were diagnosed with cerebral palsy at age 2, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children's problems that combined their mother's determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center and the efforts of talented physicians from across the country. In a report...

2011-06-15 13:38:00

HOUSTON , June 15, 2011 /PRNewswire-USNewswire/ -- When Noah and Alexis Beery were diagnosed with cerebral palsy at age 2, their parents thought they at last had an answer to the problems that had plagued their twin infants from birth. However, that proved only a way station on a journey to find an answer to the children's problems that combined their mother's determination, the high tech world of next-generation sequencing in the Baylor Human Genome Sequencing Center (HGSC) and the...

2011-06-13 07:50:05

(Ivanhoe Newswire) -- Yale researchers have discovered that hundreds of small genetic variations are associated with autism spectrum disorders. This new research supports the theory that autism is not caused by one or two major genetic defects but rather by many small variations. Investigators looked at more than 1,000 families that had a single child with autism, an unaffected sibling and unaffected parents. They compared individuals with autism to their siblings to determine the genetic...

2011-04-26 00:00:27

A first for the Columbia fertility center, a specialized diagnostic procedure is used to help a couple stop the transmission of Huntington's disease. West Columbia, SC (PRWEB) April 25, 2011 Imagine being faced with this choice... Learning for the first time that you have an incurable disease or taking action to make sure your new child is free from risk of the disease. One South Carolina man was faced with that exact dilemma as he and his wife turned to the expertise of fertility...

2011-04-07 19:02:10

A new study demonstrates that a procedure used in preconception diagnosis to identify eggs that are free of genetic disease might not work well in all cases. The research, published by Cell Press in the April issue of the American Journal of Human Genetics, highlights the issues associated with analyzing the amount of mutant mitochondrial DNA in supporting cells as a proxy for eggs prior to in vitro fertilization. Preimplantation genetic diagnosis (PGD) and preconception diagnosis (PCD) are...

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2011-04-06 10:15:00

The Human Genetics Commission (HGC), upon the request for advice from the U.K. National Screening Committee, reported that genetic tests for inherited diseases should be made widely available to couples before pregnancy. The report found that "there are no specific social, ethical or legal" reasons why these genetic screenings should not be available to let people know if they are carrying any condition that can be passed on to future generations. Cystic fibrosis and sickle cell disease can...

2011-04-06 07:51:20

(Ivanhoe Newswire) -- A specific genetic defect in one Chinese family shows that high blood pressure was inherited from the mother. The defect results from the substitution of a single DNA "base" for another during replication in the genes of a tiny cellular organ called the mitochondria, which generates a cell's energy. When reproductive cells come together to form an embryo, the mitochondrial DNA from the mother cell is passed on to the offspring. Evidence has suggested a mother-child...

2011-04-01 01:14:41

American Heart Association rapid access journal report A specific genetic defect in one Chinese family shows that high blood pressure was inherited from the female parent, researchers report in Circulation Research: Journal of the American Heart Association. The defect results from a point mutation "” the substitution of a single DNA "base" for another during replication "” in the genes of a tiny cellular organ called the mitochondria, which generates a cell's energy. When...

2011-03-01 12:45:26

Geneticists unveil workings of 3 genes that control cell development and growth By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. "As a result of the Human Genome Project, we know the basic identity of essentially all...

2011-02-28 04:05:00

95 Percent of Rare Diseases Have No Approved Drug Treatments; Treat46le T-shirt Honors Millions of Rare Disease Patients Living With Little Hope NEW YORK, Feb. 28, 2011 /PRNewswire-USNewswire/ -- Wear That You Care(TM). Today is Rare Disease Day and 46NYC (www.46nyc.com) is helping raise awareness for an important cause - this time the drug development crisis facing the rare disease patient community worldwide. The New York-based clothing company has teamed up with the Global Genes...


Word of the Day
endocarp
  • The hard inner (usually woody) layer of the pericarp of some fruits (as peaches or plums or cherries or olives) that contains the seed.
This word comes from the Greek 'endon,' in, within, plus the Greek 'karpos', fruit.
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