Miller School ALS Expert Helps Discover New Genetic Causes for Multi-System Degenerative Disorder
March 4, 2013
The Miller School’s Michael Benatar, M.D., Ph.D., associate professor of neurology, was part of an international team of researchers that discovered two new genetic causes of a multi-system degenerative disorder that typically affects the brain, muscle and bone, and of amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease. Published March 3 in the journal Nature, their study sheds light on the underlying biology of ALS and new opportunities for therapeutic development.
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ALS Research and Patient Care at the Miller School Gets $1M Boost
October 31, 2012
The ALS Recovery Fund, a steadfast ally in the fight against ALS, has pledged another $1 million to the Department of Neurology at the University of Miami for its continued ALS research and patient support. The gift will expand upon the Miller School’s existing programs and provide additional resources, including researchers and a dedicated health care professional to coordinate the unification and integration of the ALS Clinical and Research Programs.
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Neurology interviews Dr. Benatar
October 16, 2012
This week, Neurology, the official journal of the American Academy of Neurology (AAN) features an interview with Dr. Benatar about the Pre-fALS study. To listen to the podcast, please click on the link below and scroll down (if necessary) to the October 16, 2012 podcast entitled “Pre-Symptomatic Studies in ALS: Rationale, Challenges and Approach”.
11th Annual Lou Gehrig's Disease 10K Run & 5K Run/Walk
The ALS Recovery Fund has been a major supporter of ALS research and patient care at the University of Miami. The annual run/walk will be held on Saturday, May 12th at 7:30 am at the Dinner Key Auditorium on South Bayshore Drive. For more details please click the links below.
New genetic cause of ALS identified!
For a long time scientists have known that, on chromosome 9, there is a gene of great importance to both ALS and frontotemporal dementia (FTD). This gene has however remained elusive…until now: Thanks to the participation of fALS patients and their families in our research studies, we have been able to contribute to the efforts of an international consortium (led by our collaborator, Dr. Bryan Traynor, at the NIH) that identified this gene – called C9ORF72 – on chromosome 9p21. We estimate that approximately 25-30% of familial ALS cases are caused by mutations in the C9ORF72 gene. Even more significantly, mutations in this gene also appear to be the cause of about 20% of sporadic (non-familial) ALS cases in Finland; to what extent this is true for sporadic ALS in other populations, including those in the U.S., is not yet known but an area of active research. Very timely, another group of researchers at Mayo Jacksonville also independently made the same discovery of the C9ORF72 gene. These landmark findings are reported online in the journal Neuron this week. Please contact us (firstname.lastname@example.org, 888-413-9315) to learn more about how this new genetic discovery may open up opportunities for you and your family to participate in our research.
MDA Press release
NIH Press Release
fALS Connect patient registry launched
fALS Connect is an online registry for people with familial ALS as well as their family members. fALS Connect aims to connect fALS families with scientists who are engaged in fALS research. Both affected individuals as well as unaffected family members are encouraged to sign up. Click the fALS Connect logo to learn more.
VCP as a cause of ALS
Dr. Benatar and colleagues at NIH (Dr. Traynor), Italy (Dr. Chio) and St. Jude’s hospital (Dr. Taylor) recently identified mutations in the VCP (valosin-containing protein) gene as a cause of familial ALS. The ALS Association has since awarded Dr. Benatar and Dr. Taylor a grant to further study the relationship between VCP and ALS. Read more ...
Mutations in VCP have previously been described in another degenerative disorder known as IBMPFD (inclusion body myopathy with Paget’s disease and fronto-temporal dementia). VCP plays a central role in what is known as the ‘ubiquitin-protein’ degradation pathway, the natural cellular “waste disposal” system. VCP is also important in a wide range of cellular processes and we don’t yet know for sure which of these are disrupted by the mutations we’ve identified in VCP. Better understanding of the specific VCP functions that are impaired in the context of ALS and characterizing the overlap in dysfunction that results from mutations in VCP, FUS and TDP-43 promises to provide important insight into ALS pathogenesis.
Dr. Benatar and Dr. Fernando Vieira recently co-hosted an ALS-TDI webinar in which they discuss what is known about the genetics of ALS, how this information is being used in the lab to identify biological pathways and potential therapeutics, as well as an overview of current clinical research activities and opportunities for patients and families with familial ALS.
Net Change Week
Dr. Benatar recently attended Net Change Week, an annual event hosted by the Social Innovation Generation (SiG) at the MaRS Discovery District in Toronto, where he led one of the Future Lab teams. Net Change Week is dedicated to exploring the intersection between social technology and social change.
The Future Labs bring people with expertise in diverse areas together to brainstorm and develop strategies for dealing with social challenges. At this event, Dr. Benatar and his team set out to develop a sustainable system promoting clinical research and for developing treatments for diseases that currently lack therapies.
Dr. Benatar and his Future Lab proposed a social network solution called “CureTree” as a method to foster collaboration between researchers and the lay community, while aiming to find, encourage, educate and empower people to participate in clinical trials. Still in its conceptual stages, CureTree has the potential to evolve into a social network where people can come together to help find cures and treatments for devastating diseases that affect people from all around the world.
Meet Our New Research Coordinator
The Pre-fALS study is growing, so we are expanding our research team! Mike is a recent graduate of Emory University, where he majored in Neuroscience and Behavioral Biology. He will be assisting Sue with the Pre-fALS study. In addition to study logistics, Mike will play an active role in subject enrollment and data collection. Mike can often be found on the tennis courts before and after work.
Familial ALS Special Session at ALSA’s National ALS Advocacy Day
Thanks to everyone who traveled to Washington, DC for ALS Advocacy Day. Our familial ALS session was a great success. Dr. Benatar spoke for about 45 minutes, followed by a lively Q&A session. After the talk, we all enjoyed pizza and soda while discussing the special needs of fALS patients and their family members who are at genetic risk for developing fALS. The goal of this more informal aspect of our meeting was to put together a plan for assembling a support group for fALS patients and their families. Consensus seems to be that we need a combination of approaches, including telephone calls, social media technologies such as Facebook, and perhaps the occasional webinar. We agreed that this “virtual” support group should be a grassroots effort, developed and maintained by users of the support group, but with input and assistance from ARC @ Emory. We also agreed that we would try to have the support group meet in person annually in Washington, DC at ALS Advocacy Day.