Fragile X - Fragile X Syndrome - Mental Retardation - Genetic Defects - Autism - Learning Disabilities - Medical Research In Israel

Randi and Paul Hagerman

Randi Jenssen Hagerman, MD is a developmental and behavioral pediatrician and the Tsakopoulos-Vismara professor of Pediatrics at the University of California at Davis, Medical Center. Dr. Hagerman is the Director of the MIND Institute (Medical Investigation of Neurodevelopment Disorders) at UC Davis and has become internationally known as a Fragile X clinician and researcher. As the Director of the MIND Institute, Dr. Hagerman is at the helm of one of the country's primary clinics for evaluation, diagnosis and treatment of a wide spectrum of neurodevelopment disorders including Autism, Asperger's and Fragile X. Her husband, Paul, joined UC Davis in the Department of Biological Chemistry and as an associate researcher with the M.I.N.D. Institute.

A founding CFXF Scientific Advisor, Dr. Hagerman has been quoted previously in this newsletter as having told the U.S. Congress that "Fragile X is a 'research portal' for other brain disorders. It is the leading-edge candidate for a breakthrough in understanding many other diseases, especially autism". This fact of Fragile X as a 'portal' is most attractive to researchers such as Dr. Hagerman who recognize its potential to unlock the mystery of disorders that affect millions of people around the world. Dr. Hagerman has spent over 20 years on Fragile clinical work and research, particularly in molecular clinical correlation and treatment endeavors. Dr. Hagerman is the chairman of the Scientific and Clinical Advisory Committee of the National Fragile X Foundation and is a scientific reviewer for the FRAXA Foundation. The third edition of Dr. Hagerman's book, Fragile X Syndrome: Diagnosis, Treatment and Research, will be published in 2002 by the Johns Hopkins University Press.

Brenda Finucane, M.S., C.G.C.

Brenda is a genetic counselor and the Director of Genetic Services at the Elwyn Training and Research Institute in Media, Pennsylvania. Elwyn is a private, nonprofit corporation which provides a variety of residential and day services for people with developmental disabilities in the U.S. and overseas.
Since 1985, Ms. Finucane has been providing genetic diagnostic and counseling services within an educational setting, allowing her the unique opportunity to research and apply practical knowledge about fragile X syndrome. She has been directly responsible for the diagnosis of over 80 children and adults with fragile X syndrome within the Elwyn System alone. She is an active participant along with educators, psychologists and other school personnel in team meetings and behavioral planning for both day and residential students. Through Elwyn's Technical Assistance for Schools program, she has also had many opportunities to visit schools throughout the U.S. to provide staff training and to assist in the development of education and behavior pans for students with fragile X syndrome. She states, "I feel strongly that the benefits of a fragile X diagnosis should extend beyond the valuable genetic information provided to families. There is a rich body of research on behavior and learning styles in these individuals which has immediate applicability at school and in the home. I strongly support the work of CFXF in fostering research into the molecular underpinnings of fragile X syndrome, and in its interest in discovering a cure at the biochemical level. Until that dream is realized however, there is still much we can do to ameliorate symptoms in children and adults with this condition."

In addition to her work with CFXF, Ms. Finucane is a member of the Scientific and Clinical Advisory Committee of The National Fragile X Foundation, and she serves as a contact for newly-diagnosed families within the mid-Atlantic region. Her work in genetics extends to many other syndromal causes of developmental disabilities, and she is widely published. Recent publications include an updated edition of Fragile X Syndrome: A Handbook for Families and Professionals (in press) which is distributed by The National Fragile X Foundation. In 2000, she co-authored the book, Genetics and Mental Retardation Syndromes: A New Look at Behavior and Interventions (Brookes Publishing Company) with UCLA psychologists Elisabeth Dykens and Robert Hodapp

Dr. Gideon Dreyfuss

Dr. Gideon Dreyfuss, Isaac Norris Professor of Biochemistry and Biophysics, Howard Hughes Medical Institute Investigator, University of Pennsylvania School of Medicine.

Dr. Dreyfuss received his Ph.D. degree in biological chemistry from Harvard University in 1978 and was a Helen Hay Whitney post-doctoral fellow at the Massachusetts Institute of Technology. Prior to his present appointment, he was Professor and Established Investigator of the American Heart Association at Northwestern University.

Dr. Dreyfuss is chiefly interested in the transport of RNAs and proteins between the nucleus and cytoplasm and in the molecular functions of SMN, the protein responsible for the neurodegenerative disease spinal muscular atrophy.

The research efforts of the Dreyfuss laboratory are presently focused on four interrelated topics:

* The transport of proteins and RNAs between the nucleus and the cytoplasm.

* The molecular function of SMN (Survival of Motor Neurons), the protein product of the Spinal Muscular Atrophy (SMA) disease gene

* The structure and function of the hnRNP proteins, with particular focus on the role of these proteins in the formation and function of mRNA

* Novel phage display methods for identification of interacting proteins.

Two of Dr. Dreyfuss' more recent publications include: Nakielny, S. and G. Dreyfuss (1999) Transport of proteins and RNAs in and out of the nucleus. Cell 99:677-690 and Kataoka, N., J. Yong, V.N. Kim, F. Velazquez, R.A. Perkison, F. Wang and G. Dreyfuss (2000) Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm. Mol. Cell 6:673-682


Dr. Assam El-Osta

The Scientific Advisory Board of the Conquer Fragile X Foundation counts among its ranks some of the most well respected leaders in the fragile X research world. Not only have they dedicated their professional careers to the study of fragile X and other such disorders, but they continue to be so generous, providing their experience and guidance to our cause. Each issue of the CFXF newsletter highlights one of these remarkable scientists and now we proudly introduce you to our newest member, Dr. Assam El-Osta.Recently, Dr. Assam El-Osta, of the Peter MacCallum Cancer Institute joined the Conquer Fragile X Foundation's Board of Scientific Advisors and became a CFXF project grantee. Along with our other Scientific Advisors, Dr. El-Osta will provide the Foundation with scientific guidance and share his experience. Dr. El-Osta's project, "Profiling Chromatin-Dissecting the regulatory binding pattern of Fragile X chromosome in vivo." was recently funded by CFXF.
At present, Dr. El-Osta is a Senior Research Fellow at the Peter MacCallum Cancer Institute at Melbourne, a facility he joined in 1997. After receiving his Ph.D. from the University of Melbourne, he was immediately awarded the highly prestigious and nationally competitive Anti-Cancer Council of Victoria, Postdoctoral Research Fellowship and worked as a Research Fellow at the Peter MacCallum Cancer Institute where he continues his work in transcriptional gene silencing.

In 1999 Dr. El-Osta was invited by the world renowned chromatin biologist, Dr. Alan P. Wolffe to join him and his team at the Laboratory of Molecular Embryology, National Institutes of Health, U.S.A. to examine in greater detail the repression mechanisms of human MDR1 gene in cancer. A mentor and a good friend, Alan Wolffe nurtured El-Osta's research objectives and together they identified the transcriptional repressor complexes associated with the therapeutically relevant multidrug resistance (MDR1) gene. Understanding the mechanism of transcriptional regulation is crucial if we are to offer therapeutic intervention. This work was published recently in prominent molecular and cellular biology publications.

We are delighted to have Dr. El-Osta serve as a scientific advisor and to join our distinguished fragile X researchers. Welcome, Dr. El-Osta.


Dr. Karen Usdin

Dr. Karen Usdin received her Ph.D. in 1986 from the University of Cape Town, South Africa. After doing Post-Doctoral work on gene regulation in bacteria and a family of endogenous retrovirus-like elements in mammals, she turned her attention to the Repeat Expansion diseases, a group of genetic disorders that includes fragile X syndrome. She is now a Senior Investigator in the Laboratory of Molecular and Cellular Biology at the National Institutes of Health, U. S. A. Her group is investigating the mechanism responsible for the fragile X mutation. They are also interested in the molecular basis of the premature ovarian failure seen in some female carriers of “premutation” alleles and the tremor and ataxia seen in some male carriers. In addition, they are trying to understand the molecular events that lead to the transcriptional silencing of the FMR1 gene in people with fully mutated alleles. Their work involves the analysis of DNA and RNA structures formed by the fragile X gene as well as the proteins that bind to them. Her group has also developed a number of cell and animal models for studying different aspects of fragile X syndrome. It is hoped that these models may provide new insights into the normal and pathological regulation of the FMR1 gene, and may one day provide good systems for testing potential treatments for this disorder.

Jonathan Cohen, MD

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 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.


Dr. Pietro Chiurazzi

Born in Rome in 1967, Dr. Pietro Chiurazzi earned his undergraduate degree in 1992 with a thesis on the molecular diagnosis of fragile X syndrome. He earned his M.D. in 1996 at the Catholic University in Rome, specializing in Medical Genetics with research on the origin of FMR1 full mutations in the population (founder effect). He earned a Doctorate in Genetics in October 2001 at the Erasmus University of Rotterdam (The Netherlands), defending a thesis on the in vitro re-activation of the fully mutated FMR1 gene with DNA demethylating agents and hyperacetylating drugs. Dr. Chiurazzi is an Associate Member of the Italian Association for Fragile X Syndrome. Since 1999, he has held a research position in the Department of Pediatrics at the University of Messina. In February of 2003, Dr. Chiurazzi returns to the Institute of Medical Genetics of the Catholic University in Rome and will continue his work to find a cure for fragile X.



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