TSA Genetic Consortium Receives $8.5 Million Award from the NIH

In February 2000, the National Institutes of Health (NIH)
awarded TSA's International TS Genetics Consortium a grant
of $8.5 million to study the genetic causes of Tourette
Syndrome. The grant came from the National Institute of
Neurological Diseases and Stroke (NINDS), the NIH branch
concerned with neurological disorders. 

The Consortium, a unique collaboration among researchers
from thirteen centers in six countries, has been searching for
the basic genetic causes of TS. The investigators have been
cooperating closely for more than a decade, and have
produced impressive results. Last fall the consortium published
findings in the American Journal of Human Genetics that point
to two chromosomes (4 & 8) for further study as the 'TS'
genes. The new NIH grant ensures that the search will
continue at an accelerated pace. 

NIH grants are usually associated with university research
centers and not with family-based, voluntary organizations
such as the Tourette Syndrome Association. TSA may be the
first such organization to apply for and receive a grant of
this scale. It comes in recognition of both the Consortium's
outstanding scientific talent and the researchers' extraordinary
spirit of collaboration demonstrated over an extended period of
time.

Sib Pairs Needed to Continue Research 
The Consortium's research plan requires the active
participation of individuals with TS in its efforts to examine this
complex disorder. David Pauls, Ph.D. (Yale Child Study
Center, New Haven, CT), the project's leader, stated: "First and
foremost, TSA will be working hard to help us recruit 200
additional suitable families with at least two clearly affected
siblings. These data will augment and thus strengthen
significantly the already published findings. Half of the new
families will also be examined carefully to test the genetic
distribution of this group and try to better understand how that
relates to the observed phenomenon of strep infection and tic
onset in a few patients." 

Dr. Pauls added that South African colleagues will study an
isolated population of Afrikaners with TS. ". . . this will allow us
to compare those study results with the larger group of siblings,
and hopefully uncover candidate genes that might be causing
TS." 

A Complex Genetic Puzzle
In genetic research, TS is referred to as a multi-factorial which
means that the condition emerges when a number of
vulnerabilities occur in the same individual. This makes
pinpointing the 'TS genes' a particularly difficult puzzle. 

Neal Swerdlow, M.D., Ph.D., Chair of TSA's Scientific Advisory
Board, states that, "Without knowing the specific genes
responsible for TS, we've been forced to aim our efforts across
a fairly broad terrain of targets. While our advisors have had
great insight into where to 'hunt', the lack of precise focus has
hampered our rate of progress. This NIH investment in TS
genetics will be a huge catapult. Building on our previously-
supported research, identifying the TS genes will be like
painting a 'bull's eye' on the critical brain processes causing TS
symptoms." 

Dr. Swerdlow emphasized that, "Every area of TS research will
benefit from these discoveries from neuroimaging and
neuropathology studies to drug trials. Outstanding scientists
will be drawn to our cause, and our resources will be used to
greater effect. There are surely major challenges ahead, but
we are confident that the path to the target is now clear." 

The NIH grant is a major step for TSA and may one day be
remembered as the beginning of a new era for people with TS.

Paul Devore, President of National TSA remarked that, "The
work of the Consortium is a tribute to the cooperation of many
of the world's leading scientists. It is also important to note the
contribution of Sue Levi-Pearl, TSA's Director of Medical and
Scientific Programs. Her focus, skill and dedication have been
critical to the success we enjoyed in achieving this mile-stone
goal."