JAX - ALS News from The Jackson Laboratory

Lowen & Navarro tribute album aids in battle against ALS

Tue, 16 Feb 2010 15:39:49 -0500

February 5, 2010/NW Indiana Times - "Keep The Light Alive: Celebrating The Music Of Lowen & Navarro," is a new tribute album to longtime songwriters Eric Lowen and Dan Navarro with heartfelt covers from the duo's extensive catalog, recorded by such famous friends as Jackson Browne, Keb' Mo', The Bangles, The Refugees, Stonehoney, and Five For Fighting's John Ondrasik, among others.

This 13-song collection is a salute to the stellar songwriting/performing duo who have been creative partners for nearly a quarter century, as well as honoring the amazing strength and dignity with which Eric Lowen has, for the last six years, battled with Amyotrophic Lateral Sclerosis or ALS, often referred to as Lou Gehrig's disease.

After his diagnosis, Lowen continued to write, record and tour and has insisted on living in the moment. Sadly, this celebratory album comes just after the debilitating disease finally forced Lowen into retirement this past summer.

Researchers find a way to bypass stem cells

Tue, 16 Feb 2010 12:45:54 -0500

January 27, 2010/Washington, D.C. (Reuters) - Researchers have transformed ordinary mouse skin cells directly into neurons, bypassing the need for stem cells or even stemlike cells and greatly speeding up the field of regenerative medicine.

The experiment could make it possible to someday take a sample of a patient's skin and turn the cells into a tailor-made transplant to treat brain diseases such as Parkinson's or Alzheimer's, or heal damaged spinal cords.

New class of brain-protecting drugs emerging

Tue, 16 Feb 2010 12:11:43 -0500

January 31, 2010/Atlanta, GA (ScienceDaily) - Researchers have identified a compound that mimics one of the brain's own growth factors and can protect brain cells against damage in several animal models of neurological disease.

7,8-dihydroxyflavone is a member of the flavonoid family of chemicals, which are abundant in fruits and vegetables. The compound's selective effects suggest that it could be the founder of a new class of brain-protecting drugs.

The results were published online in the Proceedings of the National Academy of Sciences.

Project A.L.S. and Packard Center team up with $15M program

Tue, 16 Feb 2010 12:10:12 -0500

January 29, 2010/New York, Baltimore (Newswise) - Leading Researchers Unite for P2 ALS, a 3-Year Mission to Understand and Treat the Neurodegenerative Disease

Project A.L.S. (New York, NY) and the Robert Packard Center for ALS Research at Johns Hopkins University (Baltimore, MD) announced that they will partner on P2 ALS, a $15 million initiative designed to advance ALS (Lou Gehrig’s disease) research exponentially over the next three years.

P2ALS is distinctive in that it unites key world leaders in the three disciplines that have recently transformed the landscape of ALS science: Genetics, Stem Cell Reprogramming, and Glial-Neuron Signaling. Through P2ALS, targeted research in these three areas will be performed in an interactive, collaborative, and transparent manner. As such, the implications of discoveries in one area will be rapidly transmitted and tested in complementary areas, by multiple laboratories. New observations and ideas can and will be validated or refuted with unprecedented speed.

First U.S. stem cells transplanted into spinal cord

Fri, 12 Feb 2010 15:32:15 -0500

January 21, 2010/Atlanta, Georgia (CNN) -- For the first time in the United States, stem cells have been directly injected into the spinal cord of a patient.

Doctors injected stem cells from 8-week-old fetal tissue into the spine of a man in his early 60s who has advanced ALS, or amyotrophic lateral sclerosis. It was part of a clinical trial designed to determine whether it is safe to inject stem cells into the spinal cord and whether the cells themselves are safe.

Longtime ALS researcher and University of Michigan neurologist Dr. Eva Feldman is overseeing the first human clinical trial of a stem cell treatment in ALS patients.

"We are entering a new era of cell therapeutics for ALS, and in my opinion, it is an new era of hope for patients with ALS," Feldman said.

At least 12 patients are expected to participate in this early research. They are to receive the stem cell transplants at Emory University in Atlanta, Georgia.

This first patient in the clinical trial received several injections of stem cells into the lumbar region of the spinal cord, the area that controls leg function, because most ALS patients first lose muscle function in their legs, according to Karl Johe, Neuralstem's chairman and chief scientific officer.

Project A.L.S. and Packard Center team up with $15 Million Program

Fri, 12 Feb 2010 15:18:16 -0500

January 29, 2010/New York, Baltimore (Newswise) - Project A.L.S. (New York, NY) and the Robert Packard Center for ALS Research at Johns Hopkins University (Baltimore, MD) announced that they will partner on P2 ALS, a $15 million initiative designed to advance ALS (Lou Gehrig’s disease) research exponentially over the next three years.

Project A.L.S. and the Packard Center, non-profit leaders in forging productive collaborations among research scientists, will focus jointly on identifying the underlying causes of and the first effective treatments for ALS, a uniformly fatal neurodegenerative disease that is closely related to Alzheimer’s, Parkinson’s and Huntington’s diseases.

P2ALS is distinctive in that it unites key world leaders in the three disciplines that have recently transformed the landscape of ALS science: Genetics, Stem Cell Reprogramming, and Glial-Neuron Signaling. Through P2ALS, targeted research in these three areas will be performed in an interactive, collaborative, and transparent manner. As such, the implications of discoveries in one area will be rapidly transmitted and tested in complementary areas, by multiple laboratories. New observations and ideas can and will be validated or refuted with unprecedented speed.

New ALS drug survives telling "Phase II" clinical trials

Fri, 12 Feb 2010 15:05:33 -0500

January 4, 2010/Baltimore, MD (Newswise) - A drug that’s in a family of anti-anxiety agents has potential to slow the muscle weakening that comes with amyotrophic lateral sclerosis (ALS), scientists report after completing a Phase II clinical trial - an early, small-scale test to show if the drug works and continues to be safe.

A report online December 4 in the journal Amyotrophic Lateral Sclerosis says the drug talampanel showed some ability to slow the loss of major daily life activities such as speaking, walking and dressing that typically slip away as the disease progresses. The drug is a member of the benzodiazepine family — anti-anxiety and muscle-relaxing agents that work in the brain and spinal cord.

The study, by a scientific team from Johns Hopkins and Indiana University, reveals there’s enough benefit from this new use of talampanel to propel it into larger trials that will definitively tell its worth.

MDA awards $2.5 million grant to ALS TDI

Fri, 12 Feb 2010 14:56:34 -0500

January 7, 2010/Cambridge, MA (Newswise) - Buoyed by the extraordinary progress being made by the ALS Therapy Development Institute, the Muscular Dystrophy Association today announced a new milestone-driven grant of $2.5 million, adding to the $18 million MDA already has invested with ALS TDI -- the world’s only non-profit research center focused exclusively on developing treatments for amyotrophic lateral sclerosis (ALS). The funding comes through MDA’s fast-track ALS research fundraising initiative, Augie’s Quest, which already has granted $21.7 million for promising ALS work since June 2006.

ALS Research: Restoring disrupted connections

Mon, 28 Dec 2009 10:40:08 -0500

December 17, 2009/MDA "Quest" Online - A chemical called microRNA 206 appears to help re-establish nerve-muscle connections after injury in ALS research mice.

A molecule called microRNA 206, produced by muscle fibers after an injury to nerve cells, helps rebuild crucial nerve-muscle communications, say scientists at the University of Texas Southwestern Medical Center in Dallas and Harvard University. They say raising levels of microRNA 206 or amplifying its effects in some other way could become a new therapeutic avenue in amyotrophic lateral sclerosis (ALS).

They found that mice with an ALS-like disease fared worse without microRNA 206 than with it.

Increasing evidence suggests that the problem in ALS may not be confined to the nerve cells themselves, but to the connections between nerve fibers (which sprout from the cell bodies) and muscle fibers (the neuromuscular junctions), cells of the immune system, and other types of cells.

Prize4Life and The Jackson Laboratory Team up to Fight ALS

Fri, 4 Dec 2009 09:13:30 -0500

December 3, 2009/BioSpace.com - Today, there is no cure or significant treatment for amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease), but that may change in the very near future. A partnership between The Jackson Laboratory and Prize4Life (an organization dedicated to finding a cure for ALS), million-dollar prizes, and a unique mouse model are sowing seeds of hope for people with ALS.

Mutated protein contributes to Lou Gehrig's (ALS)

Fri, 27 Nov 2009 14:37:39 -0500

November 19, 2009/Baltimore, MD (Johns Hopkins News-letter, Science & Tech) - A new finding by researchers at Hopkins's School of Medicine has elucidated a little-known molecular pathway in the development of amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease.

The study by Kevin Chen, Lee Martin and Frances Northington has discovered a malfunction mechanism that they believe can and does contribute to the development of ALS.

The mechanism involves overexpression of one protein in particular: inducible nitric oxide synthase (iNOS or NOS2). This protein seems to be upregulated, at least in part, by a mutated form of the gene encoding for the superoxide dismutase-1 (SOD1) enzyme.

Buffalo Bills quarterback Trent Edwards rallies around the ALS Association

Fri, 27 Nov 2009 14:26:01 -0500

October 9, 2009/Buffalo, NY (Vocus/PRWeb) - In honor of his well-known high school coach Charlie Wedemeyer, who has the progressive, neurodegenerative disease ALS (amyotrophic lateral sclerosis), Buffalo Bills quarterback Trent Edwards will soon launch a new program that will help people with ALS and their families each time he leads his team to a touchdown.

"Trent's Touchdowns for ALS," which begins on Sunday, October 11th when the Buffalo Bills play the Cleveland Browns has two objectives: raise money for The ALS Association by encouraging fans and corporations to pledge a minimum amount of money for a minimum number of touchdowns, and to raise awareness about the disease.

The Voices of ALS

Tue, 20 Oct 2009 12:12:32 -0400

October 20, 2009/New York Times Health Blog "Well", by Tara Parker-Pope - The average lifespan of someone with ALS is five years. Six men and women speak about how their lives have changed as a result of this devastating illness. See their faces, hear their stories, watch them speak, learn about how they live with ALS every day.

While many people may not have heard of amyotrophic lateral sclerosis or A.L.S., they probably know the degenerative neurological condition as Lou Gehrig’s disease, which forced the baseball player to retire in 1939.

According to the A.L.S. Association, the disease afflicts an estimated 30,000 Americans and strikes people between ages 40 and 70. Early symptoms include weakness in a hand or foot, followed by difficulty with speaking, swallowing and walking. As the disease progresses, nerve cells waste away or die and can no longer send messages to muscles, leading to muscle wasting and paralysis, and eventually death. The disease affects about 1 in 100,000 people.

In the latest installment of Patient Voices, Karen Barrow, a producer for The New York Times, speaks with six men and women who share how their lives have changed as a result of this devastating illness.

Drug used to treat sepsis shows promise in mice with ALS

Tue, 20 Oct 2009 11:28:33 -0400

October 20, 2009/MDA Quest Online - A compound known as "activated protein C" (APC) that is already in use to treat severe bloodstream infections also may have benefit in ALS, according to a recently published report.

APC reduced production of a toxic protein, reduced inflammation in the nervous system, and prolonged survival by 10 percent to 13 percent in mice with a disease resembling human amyotrophic lateral sclerosis (ALS), a team of researchers reported online Oct. 19, 2009, in the Journal of Clinical Investigation.

The research was done in mice with mutations in the SOD1 gene. These mutations result in the production of toxic, defective SOD1 protein molecules. Found in people with a form of familial (inherited) ALS, SOD1 mutations are responsible for about 1 percent to 3 percent of all ALS cases. However, some reports suggest that abnormal and toxic SOD1 protein molecules may play a role in other forms of ALS besides the SOD1-related familial form.

Scientists encouraged by new mouse model's similarities to human ALS

Tue, 13 Oct 2009 11:19:50 -0400

October 12, 2009/St. Louis, MO (RedOrbit) - A new mouse model of amyotrophic lateral sclerosis (ALS) closely resembles humans with the paralyzing disorder, researchers at Washington University School of Medicine in St. Louis report.

Like humans with ALS, the new genetically engineered mouse develops progressive paralysis; loses muscle mass and specific types of motor neurons, which are nerve cells that control muscles; and dies of the disorder, which is currently fatal in humans.

"As far as we know, this is the first mouse model that recapitulates 'typical' ALS to be produced in more than a decade," says senior author Robert Baloh, M.D., Ph.D., assistant professor of neurology. "That could make it very helpful for our efforts to better understand and identify treatments for this terrible disorder."

ALS may involve form of sudden, rapid aging of the immune system

Thu, 8 Oct 2009 11:58:03 -0400

October 8, 2009/Los Angeles (EurekAlert) - Premature aging of the immune system appears to play a role in the development of amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, according to research scientists from the Maxine Dunitz Neurosurgical Institute at Cedars-Sinai Medical Center, the Weizmann Institute of Science in Israel, and Sheba Medical Center in Israel.

A study published in the Journal of Cellular and Molecular Medicine shows that CD4+ T cells, which grow and mature in the thymus before entering the bloodstream, are reduced in number in patients who have ALS as the thymus shrinks and malfunctions. Theoretically, devising therapies to support or replace these cells could be a strategy in treating the disease.

First stem cell trial for ALS treatment wins FDA approval

Wed, 30 Sep 2009 12:04:15 -0400

September 23, 2009/Ann Arbor, MI (UMich News) - The U.S. Food and Drug Administration gave the green light Friday for a clinical trial of a new stem cell treatment for amyotrophic lateral sclerosis (ALS). University Michigan neurologist, Eva Feldman, M.D., Ph.D., will be the overall principal investigator for the first human clinical trial of a stem cell treatment for ALS, a fatal neurodegenerative disease.

The Phase 1 trial to determine the safety of the treatment is expected to take place exclusively at Emory University in Atlanta, Ga., subject to approval by its Internal Review Board.

"We are very excited about this clinical trial," said Feldman, the DeJong Professor of Neurology at the U-M Medical School. “This is a major stride forward in what still could be a long road to a new and improved treatment for ALS.

Cell's natural regulatory "self-eating" process turned on with elimination of protein

Tue, 15 Sep 2009 14:42:08 -0400

September 15, 2009/Boston, MA (InSciences) - When Harvard School of Public Health (HSPH) scientists disabled a specific protein in mice that were genetically prone to develop ALS (Lou Gehrig's disease), they expected -- based on previous work -- to hasten the onset of the paralyzing, lethal disorder.

What they found was the reverse. The paradoxical results not only shed light on the complex pathology underlying ALS (amyotrophic lateral sclerosis), but they also have given the researchers an idea for a new treatment strategy.

The team was lead by Claudio Hetz, Adjunct Assistant Professor of Immunology and Infectious Disease at HSPH, and Laurie Glimcher, Professor of Immunology at HSPH. They report in the September 17, 2009, online issue of Genes & Development that mice with the "knocked out" protein, a regulatory molecule called XBP1, fared better than their normally equipped counterparts. In females particularly, the motor nerves in the brain and spinal cord were markedly protected from the accumulation of abnormal, toxic proteins that progressively destroy neurons in ALS and in diseases like Alzheimer's and Parkinson's. As a result, the disease onset was delayed, and the mice lived an average of 10 days longer (although this was true only in females), even though they had been given a mutant gene known to cause some cases of ALS.

Scientists identify genes associated with sporadic ALS or Lou Gehrig's disease

Wed, 9 Sep 2009 14:23:17 -0400

September 9, 2009/Michigan Technological University (ScienceDaily) - Michigan Technological University researchers have linked three genes to the most common type of amyotrophic lateral sclerosis (ALS), generally known as Lou Gehrig’s disease.

Professor Shuanglin Zhang leads the team of mathematicians that isolated the genes from the many thousands scattered throughout human DNA. He notes that their discovery does not mean an end to ALS, but it could provide scientists with valuable clues as they search for a cure.

It can’t come any too soon. Zhang started showing symptoms of the disease himself four years ago. He now breathes with support from a respirator and works at home with the aid of a research assistant and his wife, Qiuying Sha, an assistant professor and member of his research team.

"I felt very urgent to find the genes for ALS," he says.

Multinational research finds three new DNA variations that point to risk of developing ALS

Mon, 21 Sep 2009 09:51:43 -0400

September, 2009/MDA.org - A large, multinational study to identify genetic risk factors associated with amyotrophic lateral sclerosis (ALS) has found two DNA sequences on chromosomes 9 and one on chromosome 19 that are significantly different in people with and without the disease and may contribute to its development.

The identified DNA regions on both chromosomes contain genes for biological processes that could have an effect on the disease.

Gene variations in the chromosome-9 region have been associated with ALS in combination with the cognitive disorder frontotemporal dementia.

For the first time, a specific DNA variant on chromosome 19 was identified as having a possible ALS association. The investigators say the variant is in the same DNA region as a gene that helps regulate transmission of signals between nerve cells and between nerve and muscle fibers.

Hundreds walk for ALS research

Mon, 31 Aug 2009 10:13:13 -0400

August 31, 2009/WLBZ.com (Bangor, ME) - Heavy rain didn't stop hundreds of people from hitting the streets of Bangor Saturday.

It was the second annual walk to defeat ALS. More than two hundred people registered for the walk. The committee started the walk in Bangor last year to raise money for research and care for patients. They also want to raise awareness about the fatal neuro-muscular disease. Jackson Laboratory Associate Professor Dr. Greg Cox was the keynote speaker at the walk. He says there is important research going on for ALS right here in Maine.

MDA greenlights almost $5 million in research grants

Mon, 13 Jul 2009 12:07:35 -0400

At a time when federal and private funds for biomedical research have become scarce, the Muscular Dystrophy Association reasserts its leadership in the fight against muscle diseases by announcing grants to innovative research projects throughout America and in Canada.

"Federal support for the type of work we do has just about dried up, especially in the current economic climate. Simply put, without the support of MDA, this line of investigation could not be pursued by our lab," said Eric Schon, researcher at Columbia University Medical Center in New York.

MDA has committed over $2 billion to fund medical and scientific research, as well as clinical and client services, in its 55-year history.

No single PON gene variant raises risk of ALS

Fri, 10 Jul 2009 12:11:56 -0400

A new meta-analysis combining data from 11 studies has found no connection between variations in genes for paraoxonase (PON) enzymes and an increased risk of developing amyotrophic lateral sclerosis (ALS).

PON genes are the instructions for PON enzymes, which play a role in detoxifying certain poisons, such as organophosphate-based pesticides.

The meta-analysis (an overall analysis of several studies) rules out the theory that there’s a common PON genetic mechanism that raises ALS risk across worldwide populations. However, the analysis does not rule out the possibility that PON gene variations may raise ALS risk in people living in specific areas or who have had specific environmental exposures.

Gehrig's voice echoes in story of courage

Sat, 4 Jul 2009 12:05:58 -0400

Michael Goldsmith was concerned a few fans might boo when they saw his underhanded flip of the ball in the ceremonial first pitch Saturday. But 70 years to the day after Lou Gehrig’s immortal speech in Yankee Stadium, the fans understood the courage it took for Goldsmith just to stand on the field.

Stricken by the vicious illness that now bears Gehrig’s name, Goldsmith was responsible for Major League Baseball’s holding ceremonies in 15 parks to raise money and awareness to fight A.L.S., also known as Lou Gehrig’s disease.

ALS "lake link" tenuous

Fri, 19 Jun 2009 12:19:29 -0400

June 19, 2009/MDA-Quest Online Extra - Does pond scum cause ALS? Maybe - but the evidence is far from clear.

Recent media reports have raised the question of a possible link between an increased risk of developing amyotrophic lateral sclerosis (ALS) and living near Lake Mascoma in Western New Hampshire.

The Union Leader in New Hampshire and other news outlets have reported that the risk of developing ALS is 25 times higher than average for people living around Lake Mascoma, located in Enfield and Lebanon, N.H. The source of this statistic was not explained.

The Union Leader article says researchers at Dartmouth-Hitchcock Medical Center in Lebanon have proposed that the higher incidence of ALS in the lake area results from a combination of bacterial toxins in the lake and a genetic predisposition to develop ALS.

Fatal brain disease at work well before symptoms appear

Mon, 8 Jun 2009 10:59:35 -0400

June 8, 2009/Univ. of Florida - University of Florida scientists have discovered why a paralyzing brain disorder speeds along more rapidly in some patients than others - a finding that may finally give researchers an entry point toward an effective treatment for amyotrophic lateral sclerosis, often referred to as ALS or Lou Gehrig’s disease.

Of more than 100 possible mutations of a single gene inherited by people with familial ALS, the mutations most inclined to produce clumps of problematic cellular debris known as "protein aggregates" appear to be associated with quicker progress of the disease, according to researchers with the University of Florida’s McKnight Brain Institute writing online this week in Human Molecular Genetics.

Prize4Life and Alzheimer Research Forum launch new web-portal for ALS research

Thu, 4 Jun 2009 10:03:59 -0400

June 4, 2009/PRNewswire-USNewswire (Cambridge, MA) - Prize4life and the Alzheimer Research Forum announce the release of the ALS Forum (www.ResearchALS.org), a web-based resource for researchers interested in amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or motor neuron disease. The site is modeled on the Alzheimer Research Forum's popular website, www.alzforum.org, and is the first step in Prize4Life's efforts to build a similar set of tools for ALS researchers.

The ALS Forum represents a joint effort to increase the quantity and quality of relevant resources for researchers interested in ALS.

Holes in the walls: Are leaky barriers good or bad?

Sun, 28 Jun 2009 12:16:39 -0400

May 28, 2009/MDA-Quest Online Extra - Researchers add support to evidence that the blood-spinal cord barrier is abnormally leaky in ALS.

Proteins that keep large molecules from moving freely across blood-vessel walls in the spinal cord appear to be deficient in people with ALS (amyotrophic lateral sclerosis), MDA-supported researchers say. They don't yet know, however, whether a lower-than-normal level of some of these so-called "tight junction" proteins, is helpful or harmful in the disease process.

Neurologist and MDA grantee Stanley Appel, who directs the MDA/ALS Center at Methodist Neurological Institute in Houston, and colleagues, published their findings in the May 5, 2009, issue of the journal Neurology.

ALS "survival gene" discovered

Sun, 21 Jun 2009 12:14:37 -0400

May 21, 2009/MDA-Quest Online Extra - A new study shows a small change in the KIFAP3 gene lengthens ALS survival time.

A variant version of the gene for a protein known as KIFAP3 has been found to increase survival time in people with sporadic (nonfamilial) ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) by an average of 14 months.

The findings of John Landers at the University of Massachusetts Medical School in Worcester, with colleagues from institutions around the world, was published online May 18, 2009, in Proceedings of the National Academy of Sciences. MDA supported Orla Hardiman and Simon Cronin at the Royal College of Surgeons in Dublin, Ireland, for this work.

ALS Association recognizes Americans with ALS during ALS Awareness Month

Wed, 27 May 2009 10:18:00 -0400

May 27, 2009/ALSA.org - For the second consecutive year during ALS Awareness Month, The ALS Association’s "ALS Across America" campaign is recognizing people throughout the United States living with amyotrophic lateral sclerosis for their courageous battle with Lou Gehrig’s Disease.

The campaign, which was launched in mid April, shines the spotlight on men and women from all walks of life who despite having the progressive, neurodegenerative disease - which on average has a survival rate of two to five years from the time of diagnosis - think of and help others in similar circumstances before themselves.

The profiles of these 30 courageous people, including their caregivers, have been shared with the media throughout the country and are now featured on The ALS Association Web site.

Protective gene enables people with ALS to live longer, study finds

Tue, 19 May 2009 11:05:08 -0400

May 19, 2009/ALSA.org - A new genetic discovery may help researchers understand factors that improve survival in people who have amyotrophic lateral sclerosis (ALS). The discovery, made as a result of a study funded in part by The ALS Association, also strengthens the theory that changes in cellular transport contribute to the death of motor neurons, the cells that die in ALS.

"This discovery will help us understand more about the ALS disease process," according to Lucie Bruijn, Ph.D., senior vice president of research and development at The ALS Association. "That knowledge will help us develop better treatments for patients with the disease. This work also highlights the value of genome-wide studies of ALS patients and global partnerships."

An international consortium of scientists performed the study, which looked for normal variations in the genetic material, or DNA, of almost 3,000 patients with ALS. They found that patients whose DNA contained a specific form of one gene (called the C form) survived longer than patients whose DNA contained a different form (the T form).

First 'neuroprotective' gene in patients with amyotrophic lateral sclerosis (ALS) isolated

Wed, 13 May 2009 13:32:05 -0400

May 11, 2009/Science Daily - A genetic variant that substantially improves survival of individuals with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, has been indentified by a consortium of researchers led by John Landers, PhD, Associate Professor of Neurology and Robert Brown, MD, DPhil, Chair and Professor of Neurology at the University of Massachusetts Medical School. Discovery of the KIFAP3 gene variant is reported in the Proceedings of the National Academy of Sciences.

"This report is the first to describe genetic factors that determine rate of progression in ALS," said Brown.

Look ma, no needles!

Fri, 1 May 2009 08:51:07 -0400

May 1, 2009/Mass High Tech - New handheld device painlessly tests muscle deterioration in ALS sufferers.
A new, non-invasive device has been developed by researchers at Harvard and electrical engineering experts at MIT that measures health of muscles using electrical pules - with no needles involved. How does it work?

Electrodes disperse electricity into the muscles and measure the resulting voltages. The device is connected to a laptop that interprets the data. It's a painless, highly accurate way to assess the relative health of muscles for sufferers of neuromuscular diseases like amyotrophic lateral sclerosis (ALS), or Lou Gherig's disease.

Prize4Life awards $100,000 to two research teams' discoveries of preliminary ALS biomarkers

Wed, 29 Apr 2009 09:35:46 -0400

Waltham, MA - Prize4Life announced today that it is awarding prizes to two research teams who have identified preliminary ALS biomarkers and have made substantial progress in the Biomarker Prize Challenge. Dr. Harvey Arbesman has received the ALS Biomarker Discovery Prize for his discovery of a novel skin-based biomarker, and Dr. Seward Rutkove has received the ALS Biomarker Progress Prize for his adaptation of his current research and technology to ALS.

Patients Like Me launches Genetics Search Engine for ALS patient community

Wed, 29 Apr 2009 09:27:42 -0400

April 29, 2009 - PatientsLikeMe, the leading online community for people with life-changing conditions, announces the launch of its Genetics Search Engine for its ALS patient community. Through the PatientsLikeMe platform, patients can now share genetic information and find others like them by the gene (and even the specific mutation in that gene) causing their condition.

"This is the world's first search engine where patients can share disease-linked genetic information and use it to find other patients like them," says James Heywood, co-founder and chairman of PatientsLikeMe. "Combined with our outcome, treatment, and symptom information, this represents a patient-centered model for realizing the goals of personalized medicine today."

Gene identified in hunt for causes of sporadic ALS cases

Thu, 5 Mar 2009 11:39:10 -0500

March 3, 2009/ANSA (Italian news service) - Researchers in Europe and the U.S. have identified a gene called Sunc1 which appears to play a predominant role in regulating ALS. The team conducted genetic tests on more than 2,000 patients in search of genetic clues to the so-called "sporadic" type of ALS.

New gene associated with amyotrophic lateral sclerosis identified

Tue, 3 Mar 2009 12:58:16 -0400

A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH) and King’s College London (KCL) has identified a novel gene for inherited ALS. This is the fourth gene associated with familial forms of the devastating neurological disorder.

Two papers, published in the February 27 edition of Science, report mutations in FUS/TLS, a gene known to play a role in DNA repair and the regulation of gene expression. The mutations affect the behavior of the FUS/TLS protein within cells and lead to deposits of abnormal protein within motor neurons.

Boston-led team discovers new ALS gene

Thu, 26 Feb 2009 12:50:24 -0400

February 26, 2009/Boston Globe - A research group led by Boston scientists has found a gene whose defects cause a familial form of ALS. A team from Massachusetts General Hospital, the Broad Institute, MIT, and other institutions announced their discovery of a fourth gene whose 13 mutations caused ALS in a family of Cape Verdean origin. In another Science paper, a group in England reports two more mutations in the same gene that were found in eight British families.

"Every time a new gene like this is found, it illuminates a new pathway for triggering the disease," senior author Dr. Robert H. Brown Jr. said in an interview. "Once one has the gene, one can make a mouse model or cell model for this disease, which should accelerate efforts to find therapies for it."

Gene mutation linked to inherited ALS

Thu, 5 Mar 2009 11:39:54 -0500

February 26, 2009/U.S. News & World Report - A new gene has been identified as playing a role in the inherited form of amyotrophic lateral sclerosis, or ALS, say researchers at the University of Massachusetts Medical School and King's College, London.

Human stem cells provide a new model for ALS

Tue, 24 Feb 2009 12:53:16 -0400

February 24, 2009/Bioresearch online - A report published in the journal Disease Models & Mechanisms describes how neurons can be derived from human stem cells, and engineered to mimic inherited ALS.

Researchers at the University of California Los Angeles developed an optimized protocol to generate motor neurons from human embryonic stem cells (ES cells), which express normal or mutant forms of the SOD-1 gene, which is linked to inherited, familial ALS. Resulting cells exhibit hallmark characteristics of motor nerve cells, and neurons expressing mutant SOD-1 display abnormalities typical of ALS. Defects included shortened cell projections and a reduced life span compared to cells containing the normal SOD-1 gene.

Researchers make nerve cells from new "stem" cells

Tue, 24 Feb 2009 12:54:47 -0400

A research team at the University of California Los Angeles reported that they had made motor neurons out of ordinary skin cells in a new approach to stem cell research. The new technique could provide a substitute for embryonic stem cells and a short-cut to tailored medical therapy for ALS and other diseases.

New protein may reverse neurodegenerative diseases

Tue, 24 Feb 2009 12:56:39 -0400

February 24, 2009/Newswise (Univ. of Virginia Health Center) - A protein that transformed normal laboratory mice into super-jocks holds great promise in developing new treatments for neurodegenerative diseases like ALS, say researchers.

A study published in the February 17, 2009 online edition of Mitochondrion reports that the protein, rhTFAM (an abbreviation for recombinant-human mitochondrial transcription factor A), succeeded in entering and energizing the DNA of the mice’s mitochondria, enabling them to run two times longer on their rotating rods than a control group cohort.

Because many neurodegenerative diseases cause mitochondria to malfunction, medical researchers have been focusing on developing methods for repairing and restoring them. The new UVA study represents an important step toward achieving that goal. It shows that a naturally occurring protein, TFAM, can be engineered to rapidly pass through cell membranes and target mitochondria. Study findings show that rhTFAM acts on cultured cells carrying a mitochondrial DNA disease as well as lab mice.

Baseball to Focus Attention on Lou Gehrig’s Disease

Fri, 6 Feb 2009 14:19:19 -0500

The New York Times, 2/3/09
Major League Baseball is joining the effort to raise awareness and financial support for the search for better prevention, diagnosis, treatment and cures for ALS, also known as "Lou Gehrig’s Disease." A July 4, seventh-inning-stretch ceremony at 10 home team ballparks will include a re-enactment of Lou Gehrig’s famous Yankee Stadium farewell speech 70 years ago.

Former boxer LeDoux vows to go distance with ALS

Fri, 30 Jan 2009 10:42:11 -0500

(Minneapolis-St. Paul) Star Tribune, 1/25/09
"I'm not going to die from it," the ex-boxer and Anoka County commissioner said of the deadly disease. "This is my real heavyweight championship fight."

Scott LeDoux fought for boxing's world heavyweight championship and went toe to toe with Muhammad Ali, George Foreman and Mike Tyson. But LeDoux now faces his greatest opponent -- and his ring is shrinking and there is no known defense.

LeDoux once laced up his gloves against boxing's legends. Now, he can't lace his shoes.

The massive hands that knocked down former champion Ken Norton in 1979 have weakened so badly that LeDoux recently needed help opening a packet of sweetener.

He presses on his once massive triceps -- arms that powered him to a draw in his 1977 bout with soon-to-be-crowned champion Leon Spinks -- and says he feels nothing but bone.

His legs tire easily; a recently acquired walker looms prominently in his future, he said.

Spinal fluid proteins signal Lou Gehrig’s disease

Fri, 30 Jan 2009 10:39:55 -0500

ScienceDaily (Penn State University), 1/29/09
High levels of certain proteins in the spinal fluid could signal the onset of Lou Gehrig's disease, according to researchers. The discovery of these biomarkers may lead to diagnostic kits for early diagnosis, accurately measuring the progression of the disease and monitoring the effects of treatment.

Lou Gehrig's disease -- or Amyotrophic Lateral Sclerosis (ALS) -- is caused by the degeneration of nerve cells controlling the voluntary movement of muscles. However, it is hard to diagnose because symptoms such as muscle weakness are common in other ailments and currently, there is no diagnostic test for the disease.

"The disease has to progress far enough so that the patient begins to experience significant muscle weakness, so that a physician can identify the problem," said James Connor, distinguished professor and vice-chair of neurosurgery, Penn State Hershey. "If we had a biomarker we could start treatments earlier and perhaps save more nerve cells and slow the disease."

Dog ailment, ALS link seen

Fri, 30 Jan 2009 10:36:55 -0500

The Washington Post (HealthDay News), 1/22/09
A genetic link between Lou Gehrig's disease and a similar disease in dogs has been identified by U.S. researchers, who said their finding could help lead to therapies for both humans and canines.

Lou Gehrig's disease (amyotrophic lateral sclerosis, or ALS) is a neurodegenerative disease that affects the central and peripheral nervous systems. It causes progressive muscle atrophy and weakness, resulting in paralysis and death. There is no cure. A similar disease in dogs is called degenerative myelopathy (DM).

A genetic mutation that causes ALS in humans is the same one that causes DM in dogs, according to researchers from the University of Missouri, in Columbia, Mo., and the Broad Institute, in Cambridge, Mass. This means that dogs can be used to help test treatments for ALS, according to a news release from the university.