 |
 |
Home : Who We Are : ALS Research : About ALS : Newsletter : How You Can Help : FAQ : News & Events : Other Research : Contact Us | |
|
|
|
news and events New genetic cause of ALS identified! September 2011 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 (fals@med.miami.edu, 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.
May 2011
VCP as a cause of ALS March 2011 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.
March 2011 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.
December 2010 Dr. Benatar and Sue have both settled into their new offices at the University of Miami. Our offices are located in the Clinical Research Building at the medical campus, which is also home to the University of Miami Hospitals and Clinics, Jackson Memorial Hospital, Miami VA Healthcare System, and the Bascom Palmer Eye Institute. We will keep the website updated to the best of our abilities and are working hard to be completely functional and approved to resume our studies in this new system. We greatly appreciate the patience of all of our research participants and their families during this transition. Dr. Benatar and the ARC team are moving to Miami! October 2010 We are excited to announce that Dr. Benatar and the ALS Research Collaboration team are moving to the University of Miami. Dr. Benatar has been awarded an endowed chair in ALS research and will be the director of the neuromuscular program in the Department of Neurology at UM. This includes a large, multi-disciplinary ALS clinic. Please read this month’s newsletter for more details.
August 2010 The Muscular Dystrophy Association (MDA) has awarded Dr. Benatar $525,000 over the next three years to continue research aimed at delaying or preventing the onset of ALS in at-risk individuals. This award allows the Pre-fALS longitudinal study to continue for another three years with the goal of identifying potential causes of ALS and elucidating clues to its earlier detection. To learn more about the MDA awards, please visit http://www.mda.org/research/atlanta-emoryu-525k.html. If you are interested in learning more about familial ALS research, contact information is on our research page. Check out the summary in Philanthropy News Digest and read more about Pre-fALS project at the MDA website. Net Change Week June 2010 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 May 2010 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.
May 2010 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. |
|
|
| Copyright © 2010 ARC Website. All Rights Reserved. Site designed by Academic Web Pages. |