CFXF
SCIENTIFIC ADVISOR JONATHAN CHEN, MD BRINGS A
PARENT'S PERSPECTIVE TO OUR TECHNICAL DECISION
One
of CFXF¹s finest attributes is our Board
of Scientific Advisors. Each of our advisors makes
a unique and world class contribution to fragile
X research, and to CFXF. We feature Dr. Jonathan
Cohen, of Melbourne, Australia in this Newsletter.
One of the most special things about Dr. Cohen¹s
activity as a member of the CFXF Board of Scientific
Advisors is that in addition to being a physician
and fragile X researcher, he is the parent of
an affected child. Dr. Cohen has worked closely
with another CFXF Scientific Advisor and grantee,
Dr. Assam el-Osta, to broaden fragile X research
"down under". We are grateful for his
many contributions and for the perspective he
brings as both parent and physician.
Jonathan Cohen, MD is a parent and medical practitioner
in private practice in Melbourne, Australia. He
holds a Postgraduate Masters Degree in Family
Medicine and is a Senior Lecturer (Casual) with
the Centre for Developmental Disability Health
Victoria, Monash University Department of General
Practice. He is the President of the Fragile X
Alliance, Inc. (Australia) and Medical Director
for the Fragile X Alliance Clinic. He is involved
with
SCIENTIFIC ADVISORS
Robert Bauchwitz, M.D.,
Ph.D. Columbia University
New York, NY
Jason Dictenberg, Ph.D. Yeshiva University
New York, New York
numerous research projects, author of multiple
articles for medical and allied health journals
as well as lay press; he also makes presentations
regularly throughout Australia on fragile X syndrome.
CFXF
GRANTEES PUBLISHED IN NEURON
Two
CFXF grantees, Dr. Laura Antar and Dr. Gary Bassell,
of the Rose Kennedy Center for Mental Retardation
at the Albert Einstein College of Medicine in
New York, were recently published in the prestigious
Neuron. We are delighted their work has met with
so much success, and we obtained permission to
re-print a summary of their report (at right).
About the article, Dr. Bassell writes, ³We
were delighted to have our perspective on Fragile
X published in Neuron. With the generous support
of Conquer Fragile X Foundation and others, we
have embarked on some very exciting imaging studies
that will shed new light on the basic function
of Fragile X Mental Retardation Protein (FMRP)
in the brain. We look forward to performing some
new and exciting projects that may lead to treatments
for Fragile X.²
Sunrise at the Synapse: The FMRP mRNP Shaping the
Synaptic Interface
Recent studies provide new insight into the
mechanistic function of Fragile X Mental Retardation
Protein (FMRP), paving the way to understanding
the biological basis of Fragile X
Syndrome. While
it has been known for several years that there
are spine defects associated with the absence
of the mRNA binding protein FMRP, it has been
unclear how its absence may lead to specific synaptic
defects that underlie the learning and cognitive
impairments in Fragile X. One hypothesis under
study is that FMRP may play a key role in the
regulation of dendritically localized mRNAs, at
subsynaptic sites where regulation of local protein
synthesis may influence synaptic structure and
plasticity. This review highlights recent progress
to identify the specific mRNA targets of FMRP
and assess defects in mRNA regulation that occur
in cells lacking FMRP. In addition, exciting new
studies on Fmr1 knockout mice and mutant flies
have begun to elucidate a key role for FMRP in
synaptic growth, structure, and long-term plasticity.
By: L.N. Antar and G.J.
Bassell, Department of Neuroscience, Rose F. Kennedy
Center for Mental Retardation, Albert Einstein
College of Medicine, Bronx, NY
"Reprinted from Neuron, Vol 37, by L.N.
Antar nd G.J. Bassell, Sunrise at the Synapse:
The FMRP mRNP Shaping the Synaptic Interface.
Pages 555-558, Copyright 2003 Cell Press, with
permission from Elsevier".
UNC's
Frank Porter Graham Child Development Institute
Shares Fragile X "Snapshots"
Ever wonder what
happens to all the information collected by
researchers? Of course, good researchers submit
their findings to peer-reviewed scientific journals
so experts can scrutinize their results before
being released. Once findings appear in professional
and scientific journals, they often make their
way to the popular press. But, sometimes, for
the sake of writing an interesting, easy to
understand article, important details may be
lost.
One approach
the researchers at the Frank Porter Graham Child
Development Institute at the University of North
Carolina are taking to solve this problem is
to rewrite their own research findings
into "Snapshots" . "Snapshots"
are one page, double-sided summaries of important
findings of interest to the general public and
families in particular. They can be viewed at
the Institute's website, http://www.fpg.unc.edu/snapshots/snapshot.cfm
A recent "Snapshots"
article called "Discovering fragile X syndrome:
Family Experiences, Perceptions" by Don
Bailey, is of particular interest to the fragile
X community. It is based on an article by Dr.
Bailey that was recently published in Pediatrics
Magazine. The article is about the experiences
of 274 families as they tried to obtain correct
diagnoses for their children. It captures the
common themes of frustration, the ³wait
and see² mentality, and other experiences
of families discovering the Fragile X Syndrome
diagnosis. UNC and the Frank Porter Graham Center
staff share the Snapshot link in the hopes that
readers may gain strength in knowing others
have shared their plight.
Harris Hollin, Founder ~ Karen Fay, Past
President PO Box 37 ~ Walnut Creek, CA 94597 Tel: 925-938-9300 x1 Fax: 925-938-9315 Email:natlfx@fragilex.org Web:www.fragilex.org
NFXF is a not-for-profit tax exempt 501c3 organization Tax ID No 84-0960471
CFXF is a not-for-profit tax
exempt 501c3 organization
Tax ID No 65-0910605
One
of CFXF¹s finest attributes is our Board
of Scientific Advisors. Each of our advisors makes
a unique and world class contribution to fragile
X research, and to CFXF. We feature Dr. Jonathan
Cohen, of Melbourne, Australia in this Newsletter.
One of the most special things about Dr. Cohen¹s
activity as a member of the CFXF Board of Scientific
Advisors is that in addition to being a physician
and fragile X researcher, he is the parent of
an affected child. Dr. Cohen has worked closely
with another CFXF Scientific Advisor and grantee,
Dr. Assam el-Osta, to broaden fragile X research
"down under". We are grateful for his
many contributions and for the perspective he
brings as both parent and physician. 
Two
CFXF grantees, Dr. Laura Antar and Dr. Gary Bassell,
of the Rose Kennedy Center for Mental Retardation
at the Albert Einstein College of Medicine in
New York, were recently published in the prestigious
Neuron. We are delighted their work has met with
so much success, and we obtained permission to
re-print a summary of their report (at right).
