October 2012 - The ALS Association Greater Sacramento

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.
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