Blog Posts (21)
March 4, 2014
by Maurice Bernstein, MD
Babies are born with a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. The disease is seen on MRI as dead or dying tissue within the brain and though the child appears normal at birth, in a few months to two years of age, though earlier or later, there is loss of basic skills and finally the child may have heart, kidney, vision and breathing complications. What is this disorder? It is a congenital disease carried by the mitochondrial DNA genes of the mother and called Leigh’s Disease. Another disorder found in mother’s egg (oocyte) mitochondria are the Creatine Deficiency Syndromes characterized in the child by mental retardation, expressive speech and language delay, autistic like behavior, hyperactivity, epilepsy and movement disorders.…
February 28, 2014
I choose the provocative title to mirror the sort of headlines that were written this week about the FDA’s two-day meeting of its Cellular, Tissue, and Gene Therapies Advisory Committee. Steve Phillips addressed this meeting quite well in his post ...
February 26, 2014
Digital Journal has reported that the FDA is holding a public meeting this week to discuss “oocyte modification in assisted reproduction for the prevention of transmission of mitochondrial disease”. Although the technique being discussed does not i...
February 21, 2014
It is currently estimated that up to 65% of women with the BRCA gene mutation will develop breast cancer. Monday’s Wall Street Journal (WSJ) reported on the growing number of women with the BRCA gene mutation who are undergoing in-vitro fertiliza...
January 21, 2014
by Craig Klugman, Ph.D.
In the 1997 film GATTACA, a couple anxious to have a child sit down with their doctor.…
November 26, 2013
by Craig Klugman, Ph.D.
For those on the cutting edge (or as we called it in tech journalism, “the bleeding edge”) of science, the Human Genome Project’s promise could be found in home genetic testing.…
September 15, 2013
by Craig Klugman, Ph.D.
The National Institutes of Health wants to know the DNA of our babies. The government is not looking to diagnose babies and help them live better lives.…
May 6, 2013
Nanette Elster, JD, MPH
With Mother’s Day rapidly approaching, I can’t help but reflect upon my own journey to motherhood, which began as a solo endeavor with an anonymous sperm donor due to an infertility diagnosis at 30. This time of year always makes me a bit reflective about what titles like mom and dad, mother and father actually mean. I often hear about “biological dads,” “real father,” etc., and this makes my head spin.…
April 17, 2013
Craig Klugman, PhD
In 1994, researchers at the University of Utah discovered that mutations in the genes BRCA1 and 2 correlated with higher rates of breast and ovarian cancer.…
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March 6, 2014 7:27 pm
In the late 1980s, scientists at Osaka University in Japan noticed unusual repeated DNA sequences next to a gene they were studying in a common bacterium. They mentioned them in the final paragraph of a paper: “The biological significance of these sequences is not known.”
March 4, 2014 6:13 pm
Genetic testing has grown to be a business big enough in China to warrant the government’s intervention.
February 28, 2014 3:57 pm
On Wednesday night the New England Journal of Medicine published a study showing that a new, DNA-sequencing based blood test provides a dramatic improvement in accuracy at screening for Down’s syndrome and a second, related disease.
February 27, 2014 1:47 pm
A panel of government advisers has expressed serious concerns about a controversial proposal to allow scientists to try to make babies using eggs that have been genetically altered to include DNA from another woman.
February 14, 2014 12:51 pm
Present-day Native Americans are descended from some of the continent’s earliest settlers, a genetic study suggests.
February 13, 2014 6:44 pm
Most people are carrying around historical records in their DNA, with clues to how people from genetically distinct groups intermingled over the last 4,000 years. That’s the conclusion of a new study in the journal Science.
February 12, 2014 4:04 pm
Genetic testing to predict the likelihood of developing a hereditary cancer can help save millions of lives each year.
February 7, 2014 6:36 pm
23andMe finds 11 new genetic associations for allergy sufferers, but the company isn’t out of the hot-seat yet as questions continue to emerge about direct-to-consumer genetic testing.
February 7, 2014 6:31 pm
The gene has killed five people in the Linder family, and it now threatens the sisters themselves. But if they have their way, it will die out in their generation.
February 5, 2014 6:37 pm
Her first thought after she heard the news, after she screamed and made her mother and boyfriend leave the room, was that she would never have children.
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