October 2012 - The ALS Association Greater Sacramento

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Recent Research Recent Study Finds Connection Between ALS and Spinal Muscular Atrophy A study published in the September 28 edition of Cell Reports indicates that ALS and another disease involving motor neurons called spinal muscular atrophy (SMA) are linked at the molecular level. The research, led by Robin Reed, Ph.D., Professor of Cell Biology at Harvard Medical School in Boston, Massachusetts, offers new insights into the disease process in both diseases. ALS affects adults; SMA affects children. Both diseases are caused by the death of motor neurons, cells that control muscle and allow movement. One cause of ALS is a mutation in a gene called FUS. SMA is caused by mutation in a gene called SMN. In this new study, the team, which involved scientists from the United States, the United Kingdom and China, investigated the interactions of the FUS protein with the SMN protein. They found that the two proteins physically link up in the cell nucleus. That discovery was the first indication that a protein involved in ALS interacts with the protein involved in SMA. The finding suggests that this pathway may be disrupted in both diseases. “This new finding will help accelerate the understanding of the causes of ALS because scientists have now identified a critical link between two very different diseases that both cause the degeneration of motor neurons. That link is likely to play an important role in the ALS disease pathway,” said The ALS Association Chief Scientist, Lucie Bruijn, Ph.D. The ALS Association contributed funding to support two of the researchers involved in the study through its Translational Research Advancing Therapies for ALS (TREAT ALS) program. The program supports a diverse portfolio of research every year in order to find treatments and a cure for Lou Gehrig’s Disease. Read our press release on this recent study. The ALS Association is pleased to congratulate Tom Maniatis, Ph.D., the Isidore S. Edelman Professor of Biochemistry and Chair of the Department of Biochemistry and Molecular Biophysics at Columbia University Medical Center, who will receive the 2012 Lasker-Koshland Special Achievement Award in Medical Science from the Lasker Foundation later this month. Dr. Maniatis serves as Chair of The ALS Association’s Scientific Advisory Board. He has been instrumental in helping The Association shape its Translational Research Advancing Therapies for ALS (TREAT ALS) program, through which The Association funds a diverse portfolio of research to find treatments and a cure for Lou Gehrig’s Disease. “We are thrilled to learn that Dr. Tom Maniatis will receive this prestigious award and honored that he has played such an integral role in shaping our own research programs,” said Lucie Bruijn, Ph.D., Chief Scientist for The ALS Association. “The ALS community is fortunate to have such a distinguished investigator committed to understanding and finding treatments and a cure for this devastating disease.” The Lasker Awards are among the most respected science prizes in the world. The Lasker-Koshland Award honors scientists whose contributions to research are of unique magnitude and have immeasurable influence on the course of science, health or medicine. The awards will be given out on September 21 in New York City. Dr. Maniatis' career, which has included positions at Harvard, Cold Spring Harbor Laboratory, and Cal Tech, has focused on the way human genes are switched on and off in cells. He pioneered methods for understanding gene expression, which led to the development of new therapies to treat human genetic diseases. Throughout the years, Dr. Maniatis’ laboratory has become more and more involved in ALS research, and he and his team have made significant contributions to the field of ALS. These contributions include his work with embryonic stem cells derived from mouse models of ALS, and more recently induced pluripotent stem cells derived from ALS patients. Several of these important studies were funded in-part by The ALS Association. One of the researcher’s in Dr. Maniatis’ lab, Monica Carrasco, Ph.D., received the The Milton Safenowitz Post- Doctoral Fellowship for ALS Research Award, which is made possible by the generosity of the Safenowitz family through the Greater New York Chapter of The ALS Association and is in memory of Mr. Safenowitz, who died of ALS in 1998. The Greater New York Chapter will honor Dr. Maniatis at its 18th Annual Lou Gehrig Sports Awards Benefit on November 7, 2012, with the 2012 Jacob K. Javits Lifetime Achievement Award. 4
Ask the Doc—Dr. Edward Kasarakis Q: My father died of ALS 28 years ago, and subsequently, my first cousin also died of the disease. Both were diagnosed in their late 40’s, and I’m 47 but not having symptoms. Genetic testing was not done prior to their deaths. Is there any way to know if we’re dealing with a case of familial ALS? A: The short answer to your question is yes, there are ways to help you know what you’re dealing with. But there’s a lot you should know before deciding if genetic testing is right for you and for your family. Dr. Edward Kasarskis First, a little background. ALS is hereditary in just a small percentage of families. Only about 10% of people with ALS have a close family member with the disease. In such cases, it’s called “familial ALS” or “FALS” for short. To date, research from around the world has identified at least 8 different genes associated with FALS and the list is expanding. The first gene identified was SOD1, but it is now believed that mutations in the C9orf72 gene might be the most common. Others include FUS and TARDP. You can get many more details about genetics and heredity in ALS by clicking here. Don't let some of the technical and scientific detail intimidate you. Commercial testing is available for most of these genes (but it’s very expensive). You should know that any single family with FALS has only one mutation in one of the genes, so if you are like most people, you probably will need some professional advice (more about this later). In a situation such as yours, the best first step is to talk with a neurologist or genetic counselor about your family history. He or she will explore the details of your family history with you and provide you a better understanding of whether you’re actually dealing with familial ALS. But let’s just say the genetic counselor or neurologist suggests you get genetic testing. There’s still much more to consider in order to make a truly informed decision. You should first take a step back and ask yourself why you’re interested in getting a genetic test in the first place. Perhaps you’re wondering if you should have children? Or, if your children should have children? Or maybe you find you’re worrying about the disease and whether or not you are going to get it, and that’s causing you constant anxiety? Or perhaps others in the family are wondering? A genetic counselor will help you evaluate your concerns and decided whether genetic testing will likely be helpful to you. Sending blood off to test for these genes is easy; answering these questions may be very hard. The fact that you asked the question in the first place indicates to me that there are some issues that need further exploration with your neurologist and/or genetic counselor. In the end, you may chose not to have any genetic testing. Even if you get a genetic test and find out you have one of the ALS genes, you may still end up with more questions than answers because: Having one of the genes for FALS does not necessarily mean that you’ll develop ALS. If you have a FALS gene, there’s no way to know at what age you might develop symptoms. There are currently no preventative treatments. From my point of view, unless someone has several generations involved -- a grandparent, a parent, an uncle or an aunt, a brother or a sister -- genetic testing may not offer the information you’re looking for. Good luck on your quest. For more detailed information on the genetics of FALS, see the Q & A on The ALS Association website. If you would like to submit questions for a future Q & A, please send your questions to theexchange@alsa-national.org. Please understand that 5 we won’t be able to address all questions and we won’t be able to respond to individuals personally.
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Page 3: Walk to Defeat ALS—Thank you for
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Page 11 and 12: Thank you to our DONORS A B C C F G
Page 13 and 14: Howell’s Hope! Thank you, Bonnie!

October 2012 - The ALS Association Greater Sacramento

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