Biologists identify cause of heart defect in people with Down syndrome | Science and Health

August 29, 2013 – 01:55
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Study involving fruit flies and mice has allowed biologists to identify two genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in people born with this genetic disorder.

In the article, researchers from the University of California, the Sanford-Burnham Medical Research Institute and the University of Utah in the United States, reported the identification of two genes that, when produced at high levels, worked together to stop the development and functioning heart.

Down's syndrome is a disorder which occurs one in every 700 live births, when individuals have three copies of human chromosome 21 instead of the two normally occurring.

"Chromosome 21 is the smallest human chromosome and intensive genetic mapping studies in people with Down syndrome have identified a small region that it plays a critical role in causing congenital heart defects.

This region of the Down syndrome to congenital heart disease, called the 'DS-CHD critical region, ' contains several genes that are active in the heart, which our collaborator, Julie Korenberg, had suspected of interacting with each other to disrupt the development or cardiac function when present in three copies.

But exactly which of this handful of genes are to blame? Identifying genes in the critical region DS-CHD contributing to the congenital heart defect is challenging using experimental models of traditional mammals such as mice, since the number of possible genetic combinations that must be generated and tested is too large " said biology professor Ethan Bier.

To simplify the research, scientists have turned to fruit flies, a simpler and faster biological reproduction that has many genes in common with mice and humans.

With help from collaborators Amir Gamliel, Geoff Rosenfeld and Kirk Peterson at the University of California San Diego School of Medicine, Rolf Bodmer and Karen Ocorr at Sanford-Burnham Medical Research Institute, Julie R.

Korenberg at the University of Utah, biologist Tamar Grossman in Bier's lab, developed a sequential genetic approach to unravel the problem.


"First, fruit flies were used to test all possible genetic interactions between pairs of these genes that could disrupt the simple fluid pumping fly heart.


Utah: the perfect genetics lab: big families, Mormon Church records, and even 19th-century polygamy are proving a boon to the study of genes and ... An article from: New York Times Upfront
Book (Thomson Gale)

Your right, I havent studied it fully. But im

2009-09-11 14:59:07 by Listen_to_meh

when i research the problem... i find stuff like this... which is scarey stuff. I mean the new york times wrote this...
World’s Best Medical Care?
Many Americans are under the delusion that we have “the best health care system in the world,” as President Bush sees it, or provide the “best medical care in the world,” as Rudolph Giuliani declared last week. That may be true at many top medical centers. But the disturbing truth is that this country lags well behind other advanced nations in delivering timely and effective care

What happens when we die? (radio show)

2007-08-28 10:35:45 by Jungledave

Here's a very interesting radio show about the near-death experience (NDE) with Sam Parnia, Fellow in Pulmonary & Critical Care Medicine at Cornell Medical Center in New York, and Senior Research Fellow at the School of Medicine at the University of Southampton in the UK.
To listen, click on one of the two tabs above the headline on this link page:
I know many NDErs personally, as I facilitate a group that studies and discusses NDE's. What most NDErs would like you to know is that there is no death and no reason to fear it, that you live forever, and that you are loved unconditionally - regardless of your beliefs (or non-beliefs)

Health insurance

2009-11-14 15:57:39 by SeasonsChanging

And why is it that you don't have healthcare? If your job doesn't provide it, then buy it yourself! New York has programs for lower income folks, called Healthy New York, and it is a WONDERFUL program. Reduced premiums for private insurance.
And if you can't afford that, then go get Medicaid.
Studies and research have shown that a great majority of people in this country without medical insurance is by their own choice: They'd rather not pay a few hundred a month, and risk getting sick or in an accident---and then they'll piss and complain that they have no medical insurance

Science doing what prayer cannot

2012-06-23 09:48:32 by Elija

Jonas Salk
Died 23 Jun 1995 at age 80 (born 28 Oct 1914). American Jewish physician and medical researcher, born in New York City, who developed the first safe and effective vaccine for poliomyelitis.
His early work (1946) was research on the influenza virus. In 1963, he became director of the Salk Institute for Biological Studies at the Univ. of California, San Diego. He developed a vaccine against poliomyelitis by cultivating three strains of the virus separately in monkey tissue. The virus was separated from the tissue, stored for a week, killed with formaldehyde, then tested to make certain that it is dead

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