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About the Division
Genetic Course
Genetic Faculty

Genetic Division

The Genetics Division at Ponce School of Medicine was created in 1998. Medical genetics is one of the most rapidly advancing fields of medicine; molecular genetics is now integral to all aspects of biomedical science. Every physician who practices in the twenty-first century will require a basic knowledge of the principles of human genetics and their application to a wide variety of clinical problems.  

Medical genetics is both a basic biomedical science and a clinical specialty.  Teaching medical genetics must span the entire undergraduate medical school curriculum and continue into the post graduate years as well. Medical genetics has achieved a recognized role as a core discipline that deals with human variability and human heredity and at the same time, has developed approaches that allow new insight into many diseases and promise to provide far more in the near future.    

Genetics is a diverse subject, concerned with variation and heredity in all living organisms.  Human genetics is the science of variation and heredity in human beings, and medical genetics deals with human genetic variation of medical significance. Human genetics is undergoing a dramatic metamorphosis due in part to molecular biology.  Molecular characterization of the human genetics, its mutations, and the nature of their protein products certainly provide a deeper understanding of diseases. As such Ponce School of Medicine has devoted resources to establish state-of-the-art investigational facilities in the field of human genetics.    

The Division has excellent research facilities located in several researchers’ laboratories including DNA extraction, sequencing facilities, mutation analysis, linkage facilities and detection of polymorphisms. Specialized equipment includes automated sequencer, electrophoresis gel boxes, micro centrifuges, PCR termocyclers and RT-PCR.

Areas of interests include genetics of endometriosis (Dr. Idhaliz Flores); Bardet-Biedl syndrome (Dr. Santiago Cornier); Autism (Dr. Simon Carlo); Spondylothoracic Dysplasia Syndrome (Dr. Santiago Cornier); obesity (Dr. Santiago Cornier / Dr. Carlo).Being genetics such a complex field our division is interested as well on phenotype characterization of syndrome with high prevalence in Puerto Rican population including Spondylotoracic Dysplasia ( Jarcho-Levin syndrome); Bardet-Biedl syndrome; albinism, autism,  and Marfan syndrome among others.    

Funding for research projects in provided by grants from the following programs: RCMI-NIH and MBRS-NIH.

Contact Information
Mailing Address:

Ponce School of Medicine
Genetics Division
P.O. Box 7004
Ponce, PR 00732                                                  :  

Phone: (787) 840-2575, ext, 2218, 2156
Fax: (787) 840-5698
Location Research Building, 2 nd Floor, Rm 224

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