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
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.