Whittier mom trying to find cure for daughter’s disease

August 25, 2012

Whittier Daily News | August 24, 2012 | By Sandra Molina

WHITTIER – Jaclyn Davis first heard the words, “spinal muscular atrophy” in July 2010.

Her daughter Isabella Joy, who prefers to be called Bell, was visiting a neurologist, when he told the young mom his diagnosis.

“The neurologist sent me to a geneticist to have yet more blood work done,” Davis said. “On August 29th of 2011, just two months before Bell’s second birthday, I received the devastating news that the blood work confirmed she was positive for SMA.”

Spinal muscular atrophy, the number one genetic killer of children under the age of two, is an often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.

There are certain moments in people’s lives that carry great significance.

For Davis, 24, this was one of them.

“I remember their words telling me that most SMA children don’t live past two years of age,” she said. “I though to myself, `well, she’s almost two, and she seems so healthy.”‘

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Gwendolyn Strong Foundation and Santa Barbara Wealth Management Firm Join Forces to Raise Funds and Awareness for Spinal Muscular Atrophy Research

August 22, 2012

Press Release | August 22, 2012

Mission Wealth Management, LLC aims to raise $10,000 towards research for a cure for spinal muscular atrophy (SMA) with the Gwendolyn Strong Foundation (theGSF.org) at the Santa Barbara International Marathon on November 10, 2012.

SMA is the number one genetic killer of infants and young children. Currently, there is no treatment and no cure to help children suffering from this degenerative disease which hinders their ability to walk, stand, eat, speak, breathe, and swallow.

In fact, the National Institute of Health (NIH) has identified SMA as a “model disease” because any advance in SMA genetic research has the potential to directly impact the treatment or cure of more than 600 other diseases, including muscular dystrophy, Parkinson’s disease and Alzheimer’s disease.

Mission Wealth Management is joining Team GSF and their clients, the Strong family, to help raise money for research towards a cure. “In working with the Strong family with their personal financial planning, we became aware of their mission with the Gwendolyn Strong Foundation,” said Seth Streeter, Co-Founder and President of Mission Wealth Management, LLC. “We were so moved by their tremendous passion and commitment that we wanted to show our support by participating in the upcoming Santa Barbara International Marathon to help raise funds and awareness for this most worthy cause. We invite the whole community to join us in what will be a very special day.”

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Win One for FDR — and the Wheelchair Warrior in Your Life

July 26, 2012

Huffington Post | July 24, 2012 | By Don C. Reed

One recent night in Washington D.C., I saw two statues of Franklin Delano Roosevelt: one was huge, capturing the outsized spirit of the man, a green-bronze cape sweeping around him. The second was more accurately life-sized, showing a small wheelchair (then made of wood) so that you realized what the man had to endure, as he fought to lead America.

Both statues were accurate.

Franklin Delano Roosevelt was America’s only paralyzed president. He lost the ability to control his lower body due to polio, and stayed paralyzed till the day he died.

But he also performed heroically, accomplishing perhaps more than any able-bodied president in our history.

Through the crushing darkness of the Great Depression, FDR and the Democratic party wove America a safety net.

Social Security: different sections which attempted to protect the old, the poor, the sick and the unemployed ;

Securities Exchange Commission to regulate the uncaring greed and cruelty of Wall Street;

The Tennessee Valley Authority, which converted devastating floods to useful hydro-electricity;

These and much more were all made possible by that man in the wheelchair.

I propose we honor FDR– or another wheelchair warrior in your life.

There are roughly 3.3 million Americans in chairs, so chances are you know someone on wheels.

For me, it’s easy. I have numerous wheelchair warrior heroes. Christopher Reeve, of course, the paralyzed Superman who made it seem so natural to take on a medical condition incurable since the dawn of man.

And people you might not know, like Karen Miner and Fran Lopes, who for almost two decades have work quietly behind the scenes to raise money for research for cure.

But my personal pick is my son, Roman Reed.

The first night after his college football accident, when he was lying in bed with his athletic career suddenly ended — he asked for a banner to be made, to hang over his bed, reading: “I CAN, I WILL, I SHALL!”

That’s Roman, and he is still the same today. In the 17 years since his neck was broken, he has never wavered, never ceased believing in the possibility of cure. He looks beyond the confines of his own self, so that the struggle of a little girl named Gwendolyn Strong, paralyzed from Spinal Muscular Atrophy, is immediate and vital to him. He knows we are in this fight together, to win or lose.

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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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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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Scientists measure communication between stem cell-derived motor neurons and muscle cells

May 5, 2012

Scientists measure communication between stem cell-derived motor neurons and muscle cells

Neuroscience | May 5, 2012

In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem cell-derived motor neurons and muscle cells in a Petri dish.

The study provides an important proof of principle that functional motor circuits can be created outside of the body using stem cell-derived neurons and muscle cells, and that the level of communication, or synaptic activity, between the cells could be accurately measured by stimulating motor neurons with an electrode and then measuring the transfer of electrical activity into the muscle cells to which the motor neurons are connected.

When motor neurons are stimulated, they release neurotransmitters that depolarize the membranes of muscle cells, allowing the entry of calcium and other ions that cause them to contract. By measuring the strength of this activity, one can get a good estimation of the overall health of motor neurons. That estimation could shed light on a variety of neurodegenerative diseases such as spinal muscular atrophy and amyotrophic lateral sclerosis, or Lou Gehrig’s disease, in which the communication between motor neurons and muscle cells is thought to unravel, said study senior author Bennett G. Novitch, an assistant professor of neurobiology and a scientist with the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

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Devastating disease provides insight into development and death of motor neurons

April 30, 2012

Devastating disease provides insight into development and death of motor neurons

University of California, Los Angeles | April 29, 2012 | By Mark Wheeler

Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.

It’s a particularly cruel disorder, occurring mostly in infants, who begin manifesting symptoms at or soon after birth, with poor muscle tone, difficulty feeding, growth retardation and global developmental delay.

Now, thanks to the cooperation of a California family stricken by the disorder and a state-of-the-art genomic sequencing lab at UCLA, Dr. Joanna Jen, a UCLA professor of neurology, and colleagues discovered a specific mutation of a gene that is responsible for PCH1 in this family, then confirmed mutations in the same gene in several other PCH1 families around the world.

The study appears in the April 29 in the online edition of the journal Nature Genetics.

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