Proof that ALS Advocacy produces results!

March 21st, Congress passed legislation which extends funding for two vital ALS research programs.

The bill will provide $6 million to continue funding for the National ALS Registry. In addition, this legislation includes a nearly 20% increase in funding for the ALS Research Program (ALSRP) at the Department of Defense. ALSRP will receive $7.5 million this year, bringing total funding for the program to $40 million, all of which is explicitly focused on finding treatments for ALS. 

President Obama is expected to sign the legislation into law.

$18 Million ALS Research Grant for Stem Cell Therapy Applauded by ALS Advocates

Quest Diagnostics Announces C9orf72 Genetic Test for ALS

April 26, 2012

The company's Athena Diagnostics business unit unveiled the new test at the American Academy of Neurology Annual Meeting this week in New Orleans.

Quest Diagnostics, the world's leading provider of diagnostic testing, information and services, today announced a new genetic testing service from its Athena Diagnostics business unit, a leader in neurology diagnostics, for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.

It is the first clinically available testing service for detecting hexanucleotide repeat expansion in the C9orf72 gene.  Research published in the April 2012 issue of The Lancet found that this C9orf72 mutation was present in up to 39% of familial (inherited) ALS cases examined, and between 4-8% in sporadic (no known family history) cases, in a multi-national study population. The test is offered to aid in the diagnosis of familial and sporadic ALS.

"C9orf72 may turn out to be one of the most important discoveries in the history of ALS genetic research," said Richard Bedlack, M.D, director of the Duke University ALS Clinic.  "Preliminary work suggests that this is the most common identifiable cause for ALS in patients with or without a family history of the disease."

ALS is a neurodegenerative disorder that causes progressive muscle weakness, leading to difficulty walking, breathing, and speaking, and eventually death.  Onset is usually between the ages of 40 and 60.

In addition, research suggests the hexanucleotide repeat expansion of the C9orf72 gene is also associated with familial and sporadic Frontotemporal dementia (FTD), the second most common form of early-onset dementia after Alzheimer's disease.

“Since the identification of the expanded repeat in C9orf72 linked to ALS late last year, the pace of discovery and focus from researchers and clinicians worldwide is unprecedented for the field of ALS,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D.  “Having a diagnostic for this mutation is very important; however, there is still a great deal to be understood about how this mutation leads to ALS and FTD and the importance of repeat length and the likelihood of developing ALS if a person has the abnormally expanded repeats in C90rf72.  We encourage those interested in testing for this mutation to seek advice from their neurologist.”

The C9orf72 testing service will be available to clinicians for ALS and FTD as a standalone offering and in multi-gene evaluations on April 30.  Athena Diagnostics now offers genetic testing services for identifying eight other genes associated with ALS.  Together, these genes account for up to 70% of familial ALS.  The Company recommends genetic counseling for patients and their family before any genetic test is ordered.

To find locations where testing will be conducted, visit[DISCUI].

A lifetime of favors repaid in man’s final months

Dr. Richard K. Olney, Felled by the Disease He Studied, Is Dead at 64

From the NY Times online-

Dr. Richard K. Olney, a leading physician and pioneer in clinical research on amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, died of the disease on Jan. 27 at his home in Corte Madera, Calif. He was 64.

His death was announced by the University of California, San Francisco, where Dr. Olney had been the director of the A.L.S. Treatment and Research Center before learning in 2004 that he himself had the disease.

A.L.S. is a degenerative condition of the nerves in the brain and spinal cord that gradually robs the patient of the ability to use the muscles, trapping the victim in an increasingly unresponsive body.

Many A.L.S. patients die within two years, but Dr. Olney survived more than eight after his diagnosis. In that time he was able to see both of his children get married and to see the birth of his first grandchild, who is named after him.

“That’s why he lived so long: he was fighting to see those important milestones,” said Dr. Catherine Lomen-Hoerth, a neurologist who was trained at the clinic by Dr. Olney, and who took over in 2004 when the illness forced him to retire. She then directed his care.

Nicholas T. Olney, Dr. Olney’s son, said that his father maintained a disciplined and upbeat outlook through the course of his illness. “Once he accepted his diagnosis, he had this attitude that he could make the most of each day,” he recalled. “He didn’t let the next muscle group, the next ability he lost, get him down.”

As he explained in an interview with The New York Times in 2005, Dr. Olney first experienced stiffness in his right leg and loss of coordination in 2003. The initial diagnosis was a herniated disk. He underwent surgery, but his physical slide continued.

By May 2005, he had noticed that his right arm was growing stiff and slow. He then gave himself a common test for A.L.S.: counting the number of times he could tap his fingers in 10 seconds. He knew that he could normally tap 65 times; he had slowed to 55.

“I knew I had A.L.S. then,” Dr. Olney recalled.

A quiet man, Dr. Olney did not seek publicity until he was struck by the disease. When he retired from the clinic, he set up an endowment and agreed to cooperate with journalists in order to build support for the institution. “He wanted to make sure the A.L.S. center would continue after he was gone,” Dr. Lomen-Hoerth said.

In a statement, Lucie Bruijn, chief scientist of the A.L.S. Association, remembered Dr. Olney “not only as a courageous person with A.L.S., but someone who was an outstanding clinician and scientist who made major contributions both for patients and the scientific field.”

Richard Knox Olney was born on Dec. 15, 1947, in Munich, to Lt. Col. Frank and Frances Olney. His family later settled in Norman, Okla. He graduated Phi Beta Kappa from the University of Oklahoma in 1968 with a bachelor’s degree in chemistry, mathematics and zoology, and earned a degree in medicine from Baylor College of Medicine in 1973. He received further medical training at the University of California, Los Angeles, and the University of Oregon Health Sciences Center.

At U.C.S.F. he was known as a hard worker whose hours stunned his colleagues. “He had always told me that the extra time he put in was where he got to do the fun stuff, like research,” said his son, Nick, who is will begin his medical residency in neurology this fall.

In addition to his son, Dr. Olney is survived by his wife of 38 years, the former Paula Louise Zucal; a daughter, Amy Koch Olney Dobbs; his brother, Frank Jr.; and his grandson.

Dr. Olney and his son were working on a research paper together during his final months, focused on the use of nerve responses to predict the likely course of illness in A.L.S. patients. Dr. Lomen-Hoerth will help Nick Olney finish the paper.

Toward the end, Dr. Olney communicated with the world through a computer that responded to his eye movements, with the words appearing on a screen.

Since October, his ability to breathe had gradually diminished. But he continued to send and receive e-mail, and visited the clinic the week before he died to take part in a research project.

As he got ready to leave, Dr. Lomen-Hoerth recalled: “One of the last things he tapped out was, ‘goodbye.’ I think he knew it was his last visit.”

“That,” she added, “was a hard thing to see on the screen.”

Stem Cell Study Aids Quest for ALS Therapies  

March 26, 2012

 An article published in the journal Proceedings of the National Academy of Sciences reports a breakthrough using cutting-edge stem cell research, which could speed up the discovery of new treatments for amyotrophic lateral sclerosis (ALS) also known as motor neuron disease (MND) outside the United States.

An international research team, led by the Euan MacDonald Centre for Motor Neurone Disease Research at the University of Edinburgh in partnership with researchers from King’s College London; Columbia University, New York; and the University of San Francisco, has created motor neurons using skin cells from a person with an inherited form of ALS/MND.

Researchers discovered that abnormalities of a protein called TDP-43, implicated in more than 90% of cases of ALS/MND, resulted in the death of motor neuron cells.  This is the first time that scientists have been able to see the direct effect of abnormal TDP-43 on human motor neurons cultured in a dish.

Professor Siddharthan Chandran from the University of Edinburgh said, “Using patient stem cells to model MND in a dish offers untold possibilities for how we study the cause of this terrible disease as well as accelerating drug discovery by providing a cost-effective way to test many thousands of potential treatments.”

In 2010, The ALS Association Research Department organized an important workshop titled “Stem Cells, Genetics and RNA-Binding Proteins: Recent Advances in ALS Research and Drug Discovery” at the Banbury Center, Cold Springs Harbor, NY, which was funded by The ALS Association’s Greater New York Chapter.  It was at this workshop where several researchers – Christopher Shaw, M.D., Kings College, London, UK; Tom Maniatis, Ph.D., Columbia University, NY; and Steve Finkbeiner, M.D., Ph.D., University of San Francisco, CA – discussed collaborating in this research.  Dr. Finkbeiner is currently receiving funding for this research from The ALS Association’s Golden West Chapter.  In addition, both Drs. Shaw and Maniatis are recipients of ALS Association research grants supporting different studies.

“Workshops such as the one held at the Banbury Center provide an invaluable platform to initiate partnerships among researchers, which can seed new ideas,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D.  “International scientific collaborations are an important part of The Association’s global research program.”

This study was also funded by the MND Association in the United Kingdom.

Dudley Clendinen Signing Off As ALS Takes His Voice

What can you do but cry and laugh a bit and bow your head in homage to a spirit so big and bright that it turns nerve degeneration and fast-encroaching death into a literary and radio event worth celebrating?

This morning was Dudley Clendenin’s final broadcast. Dudley is an author, former reporter and editorial writer for The New York Times, and an all-around dashing and widely beloved southern gentleman. Since late 2010, he has also been a patient diagnosed with ALS, or Lou Gehrig’s Disease, which leads to progressive weakness, paralysis and death.

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