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Genetic research reveals pieces of autism puzzle
April 5th, 2012
02:02 PM ET

Genetic research reveals pieces of autism puzzle

As the number of children with autism has increased over the past couple of decades, so have efforts to find causes behind this neurodevelopmental disorder. Research published Wednesday provides new clues about genetic glitches that may contribute to the development of autism among children.

Ten years ago, little was known about the role genetics plays in autism. But improved technology has allowed scientists to delve deeply into DNA to search for answers.

"Ten years ago [it was like] we were looking through binoculars, then we were looking at autism through a microscope, and now it's like looking at it in high definition," says Andy Shih, vice president of scientific affairs for the advocacy group Autism Speaks, who was not involved in the research.

Since the first human genome was sequenced in the early 2000s, researchers have had the opportunity to search for genes that cause the disorder, which affects an estimated 1 in 88 children in the United States.

Researchers were originally searching for a single gene that would cause the disorder, but they now believe it's much more likely that there are multiple genetic mutations that put a child at risk. By studying specific areas of the DNA of families that have a child with autism, scientists have identified approximately 1,000 genes that may be involved.
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A warning against genetic testing
April 2nd, 2012
03:54 PM ET

A warning against genetic testing

If you follow health news, you’ve heard talk about a person's “genetic risk" of disease. With companies offering personalized genetic tests for as little as $200, it’s tempting to think that a world of knowledge is at our fingertips.

But a new paper from some of the leading names in science throws a bit of cold water on the promise.

According to a group from Johns Hopkins University, led by two scientists known for breakthrough discoveries on the genetics of cancer, genomic sequencing “fails to provide informative guidance to most people about their risk for most common diseases.”
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Gene could be factor in frequent cold sores
December 1st, 2011
04:14 PM ET

Gene could be factor in frequent cold sores

People who get frequent flare-ups of cold sores may have variations of an obscure gene, according to a study published this week in the Journal of Infectious Diseases. This is the first gene to be associated with cold sore outbreaks.

Cold sores are the lesions caused by herpes simplex virus type 1, a persistent and common virus. The sores usually appear on the lip, around the mouth and sometimes on the nose, chin and fingers. Apart from the distress the sores can cause by their appearance, they can be painful and stick around for two weeks. FULL POST


November 2nd, 2011
05:09 PM ET

New drug 'big deal' in cystic fibrosis fight

A new pill may help in the fight with cystic fibrosis.

A study, funded in part by Vertex Pharmaceuticals, found the drug ivacaftor (pronounced eye va kaf tor) caused patients with a specific type of cystic fibrosis to improve lung function, gain weight, and fight other aspects of the disease.

“This is the first time that we have a therapy that is directed at the cause of cystic fibrosis,” says Dr. Michael Konstan, the chair of the Department of Pediatrics at Rainbow Babies and Children’s Hospital in Cleveland and one of the authors of the study. There is no cure for this disease and existing treatments just help alleviate some of the symptoms.

“This is a big deal,” says Robert Beall, the president and CEO of the Cystic Fibrosis Foundation.  “The fact is it is obviously going to make a very big difference in the lives of patients.”

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How to innovate? Be fearless
October 26th, 2011
07:06 PM ET

How to innovate? Be fearless

Peter Diamandis, founder of the X PRIZE, believes there is about to be a revolution in how we innovate.

Diamandis has been instrumental in that revolution by offering monetary incentives for people to solve the world's problems, from spaceflight to oil spill cleanups. Wednesday, he announced the launch of the $10 million Archon Genomics X PRIZE presented by Medco.

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New ALS gene mutation discovered
September 21st, 2011
12:01 PM ET

New ALS gene mutation discovered

Researchers have identified a genetic abnormality which they believe to be the most common cause of  two devastating neurological diseases and could provide future clues to treatment.  Two new studies, published online in the journal Neuron, found that amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease and frontotemporal dementia or FTD that run in families are caused in many cases by a mutation on a single gene on chromosome number 9.  This mutation causes a short DNA sequence to repeat over and over, much more frequently than in healthy people.  The ALS Association, which funded both studies, calls the identification of this genetic mutation "a major milestone in ALS research."

According to the data, in healthy individuals the DNA sequence repeats 2 to 23 times. In 23% of familial ALS patients and 12% of familial FTD patients the sequence repeated 700-1,600 times.

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Blood test to tell baby's gender found reliable
August 9th, 2011
04:00 PM ET

Blood test to tell baby's gender found reliable

A blood test designed to tell the sex of an unborn baby is very reliable, especially after seven weeks' gestation, compared with urine-based tests that are also available to parents, according to new research in this week's issue of Journal of the American Medical Association.

The test based on cell-free fetal DNA taken from the mother's blood, was found to correctly detect a male fetus 95% of the time, when performed seven to 20 weeks’ gestation and then had a near-perfect rate of determining the sex of the child after that.

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About this blog

Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.

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