New method enables sequencing of fetal genomes using only maternal blood sample

July 18, 2012

New method enables sequencing of fetal genomes using only maternal blood sample

Stanford School of Medicine | July 4, 2012 | By Krista Conger

Researchers at Stanford University have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

The findings from the new approach, published July 4 in Nature, are related to research that was reported a month ago from the University of Washington. That research used a technique previously developed at Stanford to sequence a fetal genome using a blood sample from the mother, plus DNA samples from both the mother and father.

The whole genome sequencing in the new Stanford study, however, did not require DNA from the father — a significant advantage when a child’s true paternity may not be known (a situation estimated to affect as many as one in 10 births in this country) or the father may be unavailable or unwilling to provide a sample. The technique brings fetal genetic testing one step closer to routine clinical use.

“We’re interested in identifying conditions that can be treated before birth, or immediately after,” said Stephen Quake, PhD, the Lee Otterson Professor in the School of Engineering and professor of bioengineering and of applied physics. “Without such diagnoses, newborns with treatable metabolic or immune system disorders suffer until their symptoms become noticeable and the causes determined.” Quake is the senior author of the research. Former graduate student H. Christina Fan, PhD, now a senior scientist at ImmuMetrix, and current graduate student Wei Gu are co-first authors of the article.

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Mum strives for awareness of Spinal Muscular Atrophy

December 22, 2011

Mum strives for awareness of Spinal Muscular Atrophy

GetReading.co.uk | December 21, 2011 | By Laura McCardle

A mum whose baby daughter died shortly after she was diagnosed with a rare condition wants to raise awareness of it and its treatment.

Donna Bevan’s daughter Nicole was just four-and-a-half months old when she lost her battle with Spinal Muscular Atrophy (SMA) at Royal Berkshire Hospital (RBH) on Saturday, October 22.

Mrs Bevan, of Hunters Hill, Burghfield Common, believes that little Nicole was failed by the RBH and that she may have lived longer if things had been done differently.

Neurologists diagnosed Nicole with SMA on Friday, September 23, and Mrs Bevan felt her husband Nick and she were told very little about the condition except that their daughter “would have 12 months give or take”.

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At AACC Clinical Lab Expo, Quest Unveils Extensions to Women’s Health, Personalized Medicine Test

August 12, 2011

At AACC Clinical Lab Expo, Quest Unveils Extensions to Women’s Health, Personalized Medicine Test

Press Release | August 2, 2011

Quest Diagnostics Inc. unveiled extensions to its women’s health and AccuType® pharmacogenetic test menus and gave eight scientific presentations and host six scientific speakers during the American Association of Clinical Chemistry (AACC) Annual Meeting and Clinical Lab Expo.

The extensions to the company’s women’s health menu feature Athena Diagnostics’ spinal muscular atrophy (SMA) testing menu, believed to be the most comprehensive in the diagnostics industry. The services, which include adult-carrier screening and pre- and post-natal disease assessment testing, are now nationally available for the first time to physicians, laboratory directors and other clients of Quest Diagnostics. The offerings also position Quest Diagnostics as the only national major laboratory to provide testing services to assess SMA disease severity based on Athena’s analysis of the number of copies of an SMA-associated gene.

Athena Diagnostics, which Quest Diagnostics acquired in April 2011, is a provider of neurology diagnostics and a pioneer in SMA testing, which it has performed since 1996. Prior to the acquisition, select Quest Diagnostics’ business units had offered Athena Diagnostics’ SMA testing services in select regions only.

The SMA adult-carrier screening test detects defects in the survival motor neuron (SMN) 1 gene, which determines an individual’s risk of passing SMA to offspring. The pre- and post-natal disease assessment tests identify the number of copies of the SMN2 gene, which affects disease severity.

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Couple wants to spread the word about little known genetic disorder

June 10, 2011

Couple wants to spread the word about little known genetic disorder

The Acorn | June 9, 2011 | By Sylvie Belmond

A young local couple who wanted to start a family saw their dreams dashed when they learned they both carry a little-known genetic defect that kills more children than any other inherited disease.

A month after their storybook wedding in Santa Barbara in May 2010, Stephanie and Brandon Humes decided to start a family.

“ We both just really love children,” said Stephanie Humes, who grew up in Calabasas. “Even on our first date we talked about children. It was important to us to have a family young so we could travel with our kids and do fun things,” she said.

To ensure that their baby would be healthy, the couple visited an obstetrician who offered a long list of genetic tests, including one for spinal muscle atrophy (SMA).

Most children who have Type 1 spinal muscle atrophy die before age 3 due to muscle weakness and atrophy.

Although Stephanie and Brandon had never heard of SMA, she said she opted to get the test because it was one of the top three suggestions on her doctor’s list.

When results showed that she’s a carrier of the defective gene, the doctor suggested that Brandon also be tested.

His test also came back positive.

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Batten disease parents aim at screening

May 23, 2011

Batten disease parents aim at screening

San Francisco Business Times | May 20, 2011 | By Ron Leuty

Trying to find patients for clinical trials of rare disease treatments can be tough. But following StemCells Inc.’s abrupt shelving of an early-stage trial in Batten disease, patient advocates and parents of kids afflicted with deadly malady are charged up to ensure it isn’t so difficult anymore.

It’s a backstory that runs from Palo Alto to Jacksonville, Fla. — catching Vacaville, San Diego, Columbus, Ohio, Austin, Texas, Kansas City, Mo., Houston and Santa Fe, N.M., in between — and it says a lot about the power of individuals to make a difference.

The story didn’t begin with Palo Alto-based StemCells’ (NASDAQ: STEM) difficulty finding the right Batten disease patients for its trial, as I report in this week’s print edition. For years, patient advocates have been trying to get better screening of Batten disease carriers, so it reduces the risk of more children being born with the brain-wasting disease. Parents now can spend months, if not years, trying to get a correct diagnosis, allowing the disease to kill more neurons and making it less likely that companies will be able to generate the data they need to get therapies approved.

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DIY DNA tests tell couples about their unborn baby’s genetic disease risk

March 28, 2011

DIY DNA tests tell couples about their unborn baby’s genetic disease risk

Press Release | March 27, 2011

A new do-it-yourself DNA kit, set to be launched by an Australian company, will allow couples to find out if they could pass on a genetic disease to a baby.

In January, Sydney-based company Lumigenix, with laboratories in Melbourne and Los Angeles, began offering direct-to-consumer genetic testing of the risk of developing cancers, heart disease, type 2 diabetes and other diseases.

It will release a pre-conception testing kit in six months, allowing expecting and prospective parents to find out if they possess genes that make them carriers of about 250 recessive genetic diseases, including cystic fibrosis, spinal muscular atrophy, Tay-Sachs disease and Bloom syndrome.

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Quest Diagnostics to Acquire Athena Diagnostics, Establishing Leading Position in Rapidly Growing Neurology Testing Market

February 25, 2011

Quest Diagnostics to Acquire Athena Diagnostics, Establishing Leading Position in Rapidly Growing Neurology Testing Market

Press Release | February 25, 2011

MADISON, N.J., Feb. 24, 2011 /PRNewswire via COMTEX/ — Quest Diagnostics Incorporated (NYSE: DGX), the world’s leading provider of diagnostic testing, information and services, announced today that it has signed a definitive agreement to acquire Athena Diagnostics, an esoteric laboratory specializing in genetic testing for neurological disorders, from Thermo Fisher Scientific (NYSE: TMO) for $740 million in cash.

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