An important first step to finding new genetic factors in ALS – a report from the ALSRG Meeting in Chicago
October 6&7, 2005
Petra Kaufmann, MD, MSc

The cause and pathophysiology of ALS remain incompletely understood. About 10 to 15 % of cases are thought to be familial, and in one fifth of these, mutations in the gene encoding CuZn superoxide dismutatse (SOD1) have been identified. In the remaining almost 80% of the familial and in most sporadic cases, the interaction of several yet unidentified genes and environmental factors is thought to cause ALS.

With the recent technological advances in genetics, researchers can now look for genes or gene combinations that would make a person more susceptible to ALS, or for genes that would modify the disease course. Environmental factors due to a person’s lifestyle or occupation are thought to interact with genetic factors in triggering the onset of ALS. Identifying these factors in ALS might lead to a better understanding of its pathogenesis. This in turn is the basis for developing molecular targets for novel treatment approaches and therefore possibly an important step towards a cure for this devastating disease.

As a crucial first step, ALS specialists are organizing a collaborative effort of ALS care and research centers across the United States to submit blood samples for DNA and cell line banking to the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Repository. As a result, a collection of DNA and cell lines from a well-characterized patient population would be available as a resource to qualified researchers investigating the etiology of ALS. Seventy-five ALS specialists, all members of the ALS Research Group (ALSRG) under the leadership of Dr. Mitsumoto (Chair) and a number of other nationally recognized leaders in ALS recently met in Chicago to discuss this important initiative. The NINDS will fund the DNA collection and repository process, and MDA and ALSA will support coordinating the data management for this initiative. It is a very important step towards a successful ALS repository that these major federal and private research funding agencies have agreed to join forces to support this initiative. The ALSRG membership unanimously agreed that they wanted to participate in this initiative. During the meeting, they discussed how the effort could be organized and how to meet the following very important requirements: 1) A large number of blood samples is needed to allow for meaningful genetic studies. 2) Along with the blood samples, a minimal dataset of clinical information needs to be collected. 3) The samples and information have to be submitted to the repository in an anonymous way to protect patient privacy. 4) The samples will be made available to researchers in an ethical, equitable, and timely manner. After identifying these important issues during the meeting, the group is now working out the details of this project in the hope that they can invite patients to participate in this ALS DNA banking effort as early as next year.