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| Genetics: Fragile X Syndrome |
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Course
Description
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This course will present one fairly newly recognized underlying genetic etiology for tremor and ataxia. Information regarding inheritance pattern, molecular mechanism and clinical findings for this genetic disorder will be presented. Recognition of family history clues, assessment of risk to family members and approach to genetic testing will also be addressed.
Original Release: 9/4/2008
Most Recent Update: 1/1/1900
Termination Date: 9/4/2011
NUMBER OF CREDIT HOURS:
The Harvard Medical School designates this educational activity for a maximum of 1 AMA PRA Category 1 credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
COST: $20.00
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OVERALL LEARNING OBJECTIVES:
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To increase awareness of the impact of genetic disease on patients and their families.
- To encourage physicians to consider genetic causes for disease and the use of genetic testing in the everyday care of their patients.
CLINICAL LEARNING OBJECTIVES:
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Appreciate the family health history clues that warrant discussion of fragile X testing.
- Recognize the clinical findings in individuals with a premutation or full mutation in the FMR1 gene.
- Understand the molecular mechanism for fragile X syndrome.
- Assess risk to offspring of individuals with a fragile X premutation.
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Faculty
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RAJU KUCHERLAPATI, PHD
Course Director |
Raju Kucherlapati, Ph.D. is the Scientific Director of the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG) and the Paul C. Cabot Professor of Genetics and Professor of Medicine at Harvard Medical School (HMS). He is the first Scientific Director of HPCGG.
Dr. Kucherlapati was a member of the consortium to map and sequence the human and mouse genomes. His research interests are in the areas of discovery and characterization of human disease genes using a combination of human and mouse genetic and genomic approaches. He was a member of the National Advisory Council for Human Genome Research at the National Human Genomics Research Institute, co-chair of the steering committee for the National Cancer Institute’s Mouse Models for Human Cancer Consortium and served on the editorial board of the New England Journal of Medicine and was editor in chief of the journal Genomics. He is a fellow of the American Association for the Advancement of Science (AAAS).
DISCLOSURE:
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GRETCHEN SCHNEIDER, MS, CGC
Course Director |
Ms. Schneider received her Master's Degree in Human Genetics from Sarah Lawrence College in 1992. She practiced as a genetic counselor in pediatrics, specializing in Neurofibromatosis, at Boston Children's Hospital, until 1999. She worked at the Harvard-Medical School-Partners HealthCare Center for Genetics and Genomics from 1999-2008, most recently as Associate Director of Educational Activities. She has now joined the Brandeis University Genetic Counseling Program as Co-Director of Clinical Training.
Ms. Schneider has been involved in genetic eudcation activities aimed at a broad range of audiences including genetic residents and fellows, genetic counseling, physician assistant, speech pathology and nursing students, high school and college students and the general public. She was a selected participant in the 2003 Genetics Interdisciplinary Faculty Training (GIFT) Program sponsored by Duke University. She served as a judge for the 2007 Genzyme-Invitrogen Biotech Educator Award and for the 2006 and 2007 Day Essay Contests. Ms. Schneider was Co-Chair of the 2007 NSGC Region 1 Annual Education Conference and is currently Vice-Chair of the Massachusetts Board of Registration of Genetic Counselors.
DISCLOSURE:
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Reviewers
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SANJIV CHOPRA, MD
Reviewer |
Dr. Sanjiv Chopra is Professor of Medicine and Faculty Dean for Continuing Medical Education at Harvard Medical School. He is Director, Clinical Hepatology at the Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Dr. Chopra has approximately 100 publications. He has four books to his credit: Disorders of the Liver, which has been translated
into Japanese and Italian, Pathophysiology of Gastrointestinal Diseases, Gastroenterology: Problems in Primary Care, and Dr. Sanjiv Chopra's Liver Book.
Dr. Chopra is an Editor-in-Chief of UpToDate in Gastroenterology and Hepatology, an outstanding and innovative clinical reference on CD-ROM.
Dr. Chopra was the recipient of the George W. Thorn Award, presented by the Brigham and Women's Hospital Housestaff, Harvard Medical School, in 1985 for his outstanding contribution to clinical education. In 1991 he received the highest accolade from the 1991 graduating class of Harvard Medical School, The Excellence in Teaching Award. The citation read: "Outstanding clinician, devoted teacher
and mentor. We thank you for your dedication to excellence in teaching. -Harvard Medical School. Class of 1991."
In 1995 Dr. Chopra was the recipient of the Robert S. Stone Award, a prestigious award given to a faculty member who is an outstanding clinician and teacher and is chosen by colleagues, housestaff and students from the Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
In 1999 Boston Magazine listed Dr. Chopra as one of the finest doctors in his specialty.
In 2003 he was honored by being the recipient of the AGA Distinguished Educator Award.
Dr. Chopra is widely acclaimed as a superb educator. He is a most sought after speaker and has addressed medical audiences throughout the United States and in several countries abroad.
DISCLOSURE:
Scherring-Plough: Speakers' bureau
Roche: Speakers' bureau
UpToDate: Royalty income
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FRANK DRISLANE, MD
Reviewer |
Frank Drislane, MD is a neurologist at the BIDMC comprehensive epilepsy center with an interest in status epilepticus. He is also the director of the Neurology residency at BIDMC and the clerkship for Harvard Medical students.
DISCLOSURE:
Company: UU UCB
Type of Relationship: Lecture fee
Content Area: Epilepsy
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STEPHEN T. WARREN, PHD
Reviewer |
Dr. Stephen T. Warren received his PhD in Human Genetics from Michigan State University in 1981 and from 1981 to 1985 was a fellow at the University Of Illinois College Of Medicine. In 1984, Dr. Warren also was a visiting scientist at the European Molecular Biology Laboratory. In 1985 he joined the faculty of Emory University School of Medicine as an Assistant Professor of Biochemistry and of Pediatrics. Currently Dr. Warren is the William Patterson Timmie Professor of Human Genetics and Chair of the Department of Human Genetics at Emory. He also holds appointments as Professor of Biochemistry and Professor of Pediatrics. From 1991 until 2002, when he founded the Department of Human Genetics, Dr. Warren was an Investigator of the Howard Hughes Medical Institute. Dr. Warren is a Diplomat of the American Board of Medical Genetics with specialty certification in both clinical cytogenetics and clinical molecular genetics and a founding Fellow of the American College of Medical Genetics.
Dr. Warren was elected to the Board of Directors of the American Society of Human Genetics in 1997 and elected President for 2006. Dr. Warren was Editor-in-Chief of The American Journal of Human Genetics from 1999 until 2005. Among his awards are the Albert E. Levy Faculty Award from Emory University, a MERIT award from the National Institute of Health, and the William Allan Award from the American Society of Human Genetics. In 1996 he was awarded the inaugural William Rosen Research Award from the National Fragile X Foundation and, in 2006, was given this award an unprecedented second time. In 2003, he was an inaugural inductee of the National Institute of Child Health and Human Development’s Hall of Honor for the "identification of triplet repeat expansion as the cause of fragile X syndrome and as an entirely new inherited mechanism of genetic disease." Dr. Warren was elected to the Institute of Medicine of the National Academies in 2004.
DISCLOSURE:
Company: Seaside Therapeutics, Inc.
Type of Relationship: Chair, Scientific Advisory Board
Content Area: Fragile X Syndrome Therapeutic Developement
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Accreditation
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NUMBER OF CREDITS: 1
Harvard Medical School is
accredited by the Accreditation Council for Continuing Medical
Education (ACCME) to provide continuing medical education for
physicians.
The Harvard Medical School designates this educational activity for a maximum of 1 AMA PRA Category 1 credit(s)™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
Upon completion of the course you will get a certificate via e-mail within 2 weeks.
Click the image to view a sample of the
certificate
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