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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Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

July 16, 2012

Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

A team of University of Missouri researchers has found that introducing a missing gene into the central nervous system could help extend the lives of patients with Spinal Muscular Atrophy (SMA) — the leading genetic cause of infantile death in the world.

SMA is a rare genetic disease that is inherited by one in 6,000 children who often die young because there is no cure. Children who inherit SMA are missing a gene that produces a protein which directs nerves in the spine to give commands to muscles.

The MU team, led by Christian Lorson, professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology, introduced the missing gene into mice born with SMA through two different methods: intravenously and directly into the mice’s central nervous systems. While both methods were effective in extending the lives of the mice, Lorson found that introducing the missing gene directly into the central nervous system extended the lives of the mice longer.

“Typically, mice born with SMA only live five or six days, but by introducing the missing SMN gene into the mice’s central nervous systems, we were able to extend their lives 10-25 days longer than SMA mice who go untreated,” said Lorson, who works in the MU Bond Life Sciences Center and the College of Veterinary Medicine. “While this system is still not perfect, what our study did show is that the direct administration of the missing gene into the central nervous system provides some degree of rescue and a profound extension of survival.”

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Research suggests new cause to blame for spinal muscular atrophy

July 10, 2012

Research suggests new cause to blame for spinal muscular atrophy

Medicalxpress.com | June 21, 2012

Over 15 years ago, researchers linked a defect in a gene called survival motor neuron — or SMN — with the fatal disease spinal muscular atrophy. Because SMN had a role in assembling the intracellular machinery that processes genetic material, it was assumed that faulty processing was to blame.

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Researchers, with stem cells, advance understanding of spinal muscular atrophy

July 10, 2012

Medicalxpress.com | June 20, 2012

Cedars-Sinai’s Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers.

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Man’s best friend adds positive impact to kids with special needs

June 15, 2012

Man’s best friend adds positive impact to kids with special needs

FOX | June 11, 2012 | By Chris Olberholtz and Matt Stewart

LEAWOOD, KS (KCTV) – Dogs are amazing animals and can do so many things. Now, one national organization is pairing up service dogs with kids with special needs.

An 8-year-old boy from Leawood just brought home his new best friend, and the positive impact it has made in his life is amazing.

Every morning, the parents of 8-year-old Charlie Sykora lift him out of bed and buckle him into his wheelchair so he can get around.

Charlie has Type 1 Spinal Muscular Atrophy, or SMA for short. He can’t walk. It is hard for him to play with other kids his age. He has struggled to make friends. But now he has a new best friend.

Meadow is half lab, half retriever, and she has helped people see Charlie in a different light.

“Charlie had been saying he didn’t want to go out in public because he didn’t like people staring at him, he didn’t like that feeling,” Charlie’s mother, Kim Sykora, said.

Charlie says people never used to come up to him before, only his family and friends.

“With a dog, it opens it up, it gives people a reason to approach,” his mom said.

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Angela Wrigglesworth dubbed Klein ISD elementary Teacher of the Year

May 23, 2012

Angela Wrigglesworth dubbed Klein ISD elementary Teacher of the Year

Cypress Creek Mirror | May 10, 2012

Teaching wasn’t always Angela Wrigglesworth’s career goal. In fact, she likes to joke a fluke incident in college “railroaded” her into becoming a teacher.

Wrigglesworth was diagnosed with spinal muscular atrophy when she was 16-months-old and has been wheel-chair bound nearly all her life.

During her first year at Texas A&M, she planned on getting a degree in business, which included several classes on the other side of campus from her dorm.

One day on her way to an accounting class, she was crossing a set of railroad tracks with a group of students when her wheelchair came to a dead stop. The electric current that was caused by a train that had just passed short circuited her chair mid-way through the tracks. After several minutes of panic and offers by students to help carry her extremely heavy wheelchair out of harm’s way, the chair turned back on. It was in that moment, however, that she vowed to never cross those tracks again.

“Life can lead us down so many paths, and in this particular case, my situation literally put me stuck on some railroad tracks and really changed the direction of my life,” recalled Wrigglesworth.

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Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy

May 5, 2012

Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy

Press Release | May 3, 2012

Families of SMA is pleased to announce the award of up to $750,000 for an important new grant to Dr. Brian Kaspar at Nationwide Children’s Hospital. This award will support preclinical development of a CNS-delivered Gene Therapy for Spinal Muscular Atrophy. With funding from FSMA, Dr. Kaspar’s team will initiate the studies needed for an Investigational New Drug (IND) application for this therapy to the Food and Drug Administration (FDA).

“Families of SMA is excited to be awarding new goal-directed drug discovery funding for this gene therapy program. This work follows up on a 2010 grant from FSMA to test the age-dependence in primates of this gene therapy. The new funding will allow us to accomplish several key goals simultaneously”, says Jill Jarecki, PhD, FSMA Research Director. “First, it will allow us to advance this very promising new therapy for SMA towards human clinical trials. Second, it will allow FSMA to fund multiple SMA drug programs concurrently, which have different approaches. Doing this will increase our community’s chances of successfully finding a treatment for SMA.”

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