Type 1 Gaucher disease is an autosomal recessive condition that ranges from mild to severe and can present anywhere from childhood through adulthood. The carrier frequency for Gaucher disease among the Ashkenazi Jewish population is often cited at 1 in 14, so this disease is routinely included in discussions of carrier screening for Jewish couples (although anyone can be affected). It is the most common disorder out of a group of genetic diseases known as lysosomal storage disorders, and it is one of only a few conditions for which enzyme replacement therapy is not only available, but also highly effective. This case revolves around a 20-year-old man who presents with fatigue, easy bruising, and abdominal distension.

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:

At the conclusion of this case participants should be able to:

1. recognize the clinical presentation(s) of Gaucher disease,
2. describe the genetic basis of Gaucher disease,
3. anticipate potential complications in patients with Gaucher disease, and
4. explain the currently available therapy for Gaucher disease.

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RAJU KUCHERLAPATI, PHD Course Co-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:

DEBORAH MARSDEN, MD Course Co-Director

Bio and Photo Coming Soon. DISCLOSURE:

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BRUCE BARSHOP, MD, PHD Reviewer

Bio and Photo Coming Soon. DISCLOSURE:

HARVEY P. KATZ, MD Reviewer

Harvey P. Katz, M.D., is an Associate Clinical Professor in the Department of Ambulatory Care and Prevention at Harvard Medical School and Harvard Pilgrim Health Care. Dr. Katz is the Director of the Primary Care Clerkship at the Harvard Medical School, and co-director of the HMS Primary Care Division. Dr. Katz is a pediatrician with a subspecialty in pediatric endocrinology, with residency training at the Johns Hopkins Hospital and endocrine fellowship at the University of California, San Francisco. Dr. Katz has a long-standing interest in teaching and patient-clinician communication. He is author of Telephone Medicine: Triage and Training for Primary Care (FA Davis, 2001) and co-author of the online continuing education course, The Role of the Telephone in Clinical Medicine: Reducing Liability and Improving Care (www.rmfce.com). Dr. Katz is also deputy director of Pri-Med, the Harvard course in primary care which has enrolled over 150,000 attendees since its inception in Boston in 1985. DISCLOSURE:

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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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