The Role of the Immune System in ALS
Speaker: Howard Weiner, MD, Brigham and Women's Hospital
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Can Vaccination Stop SOD Protein's Toxic Effects?
Speaker: Janice Robertson, Ph.D.
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C9ORF72: Another Vital Piece of the Molecular Jigsaw Puzzle
Speaker: Dr. Chris Shaw, 2012 Sheila Essey Award recipient

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Mechanisms and Therapeutic Approaches for TDP-43 Proteinopathies
Leonard Petrucelli, Ph.D. Chair of Neuroscience
Mayo Clinic, Jacksonville, Florida

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Topic: Autophagy as a therapeutic target for ALS
Stephen Finkbeiner, M.D., Ph.D. from the Gladstone Institute, UCSD
Autophagy is a pathway in healthy cells that removes damaged or worn out proteins and organelles, including mitochondria and aggregated protein. Abnormal protein aggregation is found in several neurodegenerative diseases including ALS. The investigators recently discovered a series of small molecules, some of which are FDA-approved drugs, which stimulate autophagy in neurons, including human neurons made from induced pluripotent stem cells from healthy volunteers. These were tested in Huntington’s disease, and they promoted the clearance of misfolded protein and protected neurons from neurodegeneration. In an ALSA-funded study, they will investigate the role of autophagy in models of ALS. Dr. Finkbeiner will discuss the approaches taken in the study to understand ALS disease and develop therapies.

Understanding the Connection:
ALS and Frontotemporal Lobar Dementia
Presented by Catherine Lomen-Hoerth, MD, neurologist and director of the ALS Center at UCSF Medical Center in San Francisco, California.

For ALS Mouse Models, Maine Lab is the Core Resource

Presented by: Cathleen Lutz, PhD, Jackson Laboratories
In a recent webinar The ALS Association sponsored, Cathleen Lutz, Ph.D., Associate Director of the Genetic Resource Science Repository at Jackson Laboratories, spoke about the Lab’s work to develop, maintain and distribute ALS mice. 

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Research Update Webinar on the ALS Mouse Repository at Jackson Laboratories

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Rosa Rademakers, PhD. and Bryan Traynor, MD.

A newly-discovered mutation is the most common known genetic cause of familial ALS and also accounts for some sporadic ALS cases. Researchers now have new clues about ALS and familial frontotemporal dementia (FTD). Hear Rosa Rademakers, PhD, and Bryan Traynor, MD discuss the implications of the new research.

Rosa Rademakers is with the Department of Neuroscience at the Mayo Clinic in Jacksonville, Florida. Her research is centered around the molecular genetic analyses of neurodegenerative diseases with a main focus on frontotemporal dementia (FTD) and ALS.

Bryan Traynor is Chief of the Neuromuscular Diseases Research Group in the Laboratory of Neurogenetics at the National Institutes of Health (NIA) and an adjunct faculty member of the Neurology Department, Johns Hopkins.

Dr. Teepu Siddique
Professor of Neurology, Northwestern University.

Dr. Siddique was the senior researcher for the new gene linked to familial ALS involved in the processing of accumulated proteins, Ubiquillin-2. He has dedicated most of his career to neurological disorders such as ALS. Dr. Siddique will be speaking of the discovery of the Ubiquillin-2 and its impact on the future of ALS research.

Dr. Merit Cudkowicz
Professor of Neurology, Harvard Medical School

TREAT ALS/NEALS Clinical Network

Dr. Cudkowicz chairs the Northeast ALS Consortium (NEALS) where they are dedicated to developing and implementing clinical trials and other research studies focused on the understanding of ALS and improving the care of those living with the disease.

Nicholas Maragakis, M.D.
Johns Hopkins School of Medicine, Baltimore, MD

Exercise Clinical Trial for ALS

Despite decades of discussion over the potential benefit or harm of exercise in ALS, no study has compared these two forms of exercise, resistance and endurance, with the current standards of ALS care—stretching and range of motion exercise.  The ALS Association is funding Dr’s Nicholas Maragakis and Merit Cudkowicz to address these questions in a randomized, controlled study with the long term goal of establishing a larger efficacy study and eventually a consensus statement on the potential benefits (or detriments) of exercise in this neurodegenerative disease.

Ammar Al-Chalabi, MD
MRC Center for Neurodegenerative research
Insititute of Psychiatry
London, UK

Understanding the relationships between gene variations and patterns of ALS. The ALSoD database.

Keeping up with the rapidly changing field of ALS genetics is difficult. New genes thought to cause ALS with varying levels of scientific support are reported almost every month, and even for those that are widely regarded as being true ALS genes, the exact variations within them and how they relate to disease may be difficult to understand. One way to overcome this problem is by collecting all the scientific reports and unpublished genetic information in one place, combining information about the clinical picture with genetics to see if new patterns emerge. The ALS Online Database (ALSoD) found at http://alsod.iop.kcl.ac.uk currently records information on 74 possible ALS genes with tools for analysis and summaries of the relationships between those genes and patterns of ALS.

>> View archived webinar at https://alsa.webex.com/alsa/ldr.php?AT=pb&SP=MC&rID=63243002&rKey=28e9859addf9e092

Related Documents:

Summary: Online Database of ALS Genes

Tom Maniatis, Ph.D.
Columbia Medical School, New York, NY

The role of TDP43 in ALS

Identification of mutations in TDP43 linked to familial ALS has opened up new avenues for research.  Using novel technologies, Dr. Maniatis’s laboratory is attempting to understand how TDP43 causes ALS, enabling the identification of new approaches to treat ALS.

Electrical Impedance Myography as a Biomarker for ALS

Dr. Seward Rutkove
Beth Israel Deaconess Medical Center

Dr. Seward Rutkove’s biomarker, a method called electrical impedance myography (EIM), sensitively measures the flow of a tiny, painless, electrical current through muscle tissue.  As the disease progresses, ALS patients’ muscles atrophy, and the more their muscles weaken and shrink, the greater the change detected as the current moves through the muscle.  By comparing the size and speed of the electrical current as it passes through healthy and diseased tissue, EIM can accurately measure the progression of the disease.

Exome sequencing and identification of mutations in VCP linked to familial ALS

Bryan Traynor, M.D.
National Institute of Aging, Bethesda, MD

Exome sequencing is a new technique, which allows researchers to rapidly sequence the 1% of the human genome that codes proteins; this is where 85% of the mutations causing familial ALS lies.  Using this technology, Dr. Traynor identified a new gene, valosin-containing protein (VCP), which is linked to familial ALS.

Using Induced Pluripotent Stem Cells to Identify New Treatments for ALS

Ashkan Javaherian, Ph.D.
iPierian, San Francisco, CA

Adult skin cells can be manipulated to generate induced pluripotent stem cells to produce motor neurons and astrocytes, cells at risk in ALS.  The ALS Association has awarded a one-year grant to iPierian to support the identification of a “cellular phenotype,” which represents differences in motor neurons or astroglial cells derived from ALS patients, versus healthy controls.  This phenotype would be the basis for drug screening to identify potential disease-modifying drug candidates for ALS.