Amy Sugimoto - Sacramento - ALS Association

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Research Page 6 Genome Study Identifies Chromosome 9 Link to ALS In an ALS Association-funded study conducted in Finland, researchers found that a major cause of familial ALS was located on chromosome 9p21. Finland is a well suited location for a genome-wide association (GWA) study of ALS because the incidence of the ALS is one of the highest in the world, and the genetic background of the Finnish population is relatively homogenous. Previous GWA studies have failed to identify a single location that is significant and can be replicated in other studies probably because of the heterogeneity of the disease. “Although GWA study has been a disappointing approach to find new genes linked to sporadic ALS, it is encouraging to see the approach used successfully in a more homogeneous population,” said ALS Association Chief Scientist Dr. Lucie Bruijn, Ph.D. In the study published in Lancet Neurology, 853 DNA samples were collected from 442 people with ALS and 521 control individuals. Control samples were from a population-based study of elderly Finnish individuals. People known to carry the SOD1 gene were included in the final analysis as positive controls to assess whether this genome-wide association study was able to detect an association signal. Two signal peaks were identified in the population that reached significance: one peak corresponding to the known autosomal recessive D90A mutation of the SOD1 gene and the second corresponding to chromosome 9p21.2 a location previously linked to autosomal dominant ALS, where the gene is passed from just one parent. The study therefore describes a major cause of familial ALS in the Finland located on chromosome 9p21. Furthermore, the overlap with the risk haplotype (a combination of DNA sequences) recently also reported for frontotemporal dementia provides further evidence of a shared genetic cause for these two neurodegenerative diseases. Although the investigators are currently unable to identify the specific genetic variation underlying this locus, it will be feasible to identify patients with chromosome 9p21-linked ALS by sequencing for this risk haplotype. The research team was led by Bryan Traynor, a neurogeneticist with the National Institute on Aging and with the Johns Hopkins School of Medicine. "We are very excited about this result because for the first time, we have been able to explain a large proportion of ALS cases in a population, Taynor said. “We will continue to pursue this chromosome 9 locus to understand how it gives rise to disease.” In addition to The ALS Association, funding for this project came from National Institutes of Health and National Institute on Aging, Microsoft Research, Helsinki University Central Hospital, Finnish Academy, Finnish Medical Society Duodecim, and Kuopio University. Specializing in Home Medical & Supplies 2551 Warren Drive Rocklin, CA 95677 Telephone (916) 624-0900 Fax (916) 624-9801 S a l e s R e p r e s e n t a t i v e : B r i a n H a c k e t t , A T P R E S N A C e r t i f i e d T e c h n i c i a n
Page 7 Advocacy and Public Policy—The National Registry is launched Advocacy and Public Policy— Sign-Up for the National ALS Registry What causes ALS? How can it be treated? How many Americans actually have the disease? All of us who have been touched by ALS have asked those questions at some point. And we've also heard the answers: that there are no clear answers; that there is no treatment. But that may soon change because the federal government is set to fully implement the National ALS Registry this October! Beginning this fall, every person with ALS in the country will be able to self-enroll in the Registry and provide scientists and doctors with the information they need to answer these and countless other questions that have gone unanswered since ALS was first discovered as a disease more than 130 years ago. Indeed, for the first time, every person with ALS will be counted. And this new data about ALS may help us learn what causes the disease, how it can be treated or even prevented from occurring in the first place. But in order for us to realize the promise of the Registry, we will need your help. Once self enrollment begins, we need every person with ALS to enroll in the Registry! And we will need everyone in the ALS community to spread the word about the Registry to people across the country and encourage them to enroll. The ALS Association will provide tools to help you on our website, including instructions on how to enroll, fact sheets and answers to frequently asked questions. Please visit the site regularly this month for the latest news on the Registry and when selfenrollment will begin. http://webba.alsa.org/site/PageServer?pagename=BA_ALS_Registry The ALS Association Greater Sacramento Chapter and advocates like you led the fight to enact the ALS Registry Act and secure Congressional funding to build the Registry. And together, we can continue to create the Roadmap that will lead to a treatment and cure for Lou Gehrig's Disease. By the Agency for Toxic Sustances and Disease Registry Defeating Amyotrophic Lateral Sclerosis (ALS) is one step closer. Indeed, progress in recognizing and treating the disease has come about because of team effort. And because of the teamwork of ALS patients and their advocates, the National ALS Registry will soon be a reality. In 2008, Congress charged the federal Agency for Toxic Substances and Disease Registry (ATSDR) with developing a registry to gather and organize information about people living with ALS. The National ALS Registry represents a ground-breaking step in the fight against ALS. This registry will give researchers data about who has the disease and where it occurs. They can use registry data to detect disease pattern changes over time and to investigate possible common risk factors among ALS patients. This information can help researchers: Estimate the number of new cases of ALS identified each year; Estimate the number of people who have ALS at a specific point in time; Examine the connection between ALS and other motor neuron disorders that can be confused with ALS, misdiagnosed as ALS, and in some cases progress to ALS, and improve care for people with this disease. To ensure privacy, only certain researchers from ATSDR have access to the database. Individual patient data will not be distributed, but researchers outside ATSDR can request compiled data. Currently, there is no accurate picture of who has ALS. But the more people living with ALS participate in this registry, the more accurate the picture will become. Beginning in fall 2010, people living with ALS will be able to add their information to the registry. To learn more about the National ALS Registry, visit www.cdc.gov/als. The ATSDR, which is implementing the National ALS Registry, is a federal agency of the U.S. Department of Health and Human Services and sister agency to the Centers for Disease Control and Prevention (CDC).
Page 1 and 2: October 2010 Inside this issue: Upc
Page 3 and 4: Plainfield Palooza….a rocking eve
Page 5: VOLUNTEERS WANTED: Community Ambass
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Page 12: Thank you to all September 2010 don

Amy Sugimoto - Sacramento - ALS Association

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