Medical Genetics Training Programs

The Department of Pediatrics sponsors a fully approved residency in Medical Genetics, and encourages students who are planning to do a pediatric residency to consider Genetics as a subspecialty. This may be done in several ways:

• As a 2-year fellowship at the conclusion of the full 3-year pediatric residency, thereby being board-eligible in both Pediatrics and Medical Genetics.
• As a 2-year fellowship at the conclusion of 2 years of the pediatric residency, thereby being board-eligible in Medical Genetics.

Fellowship in Cytogenetics or Molecular Genetics

Applicants to the fellowship in cytogenetics or molecular genetics should submit a cover letter, CV and three letters of recommendation to:

Wendy Chung, MD PhD
Director of Clinical Genetics
Cytogenetics and Molecular Genetics Fellowship Director
1150 St. Nicholas Avenue, Room 620
New York, NY 10032
wkc15@columbia.edu

Applicants to the fellowship in cytogenetics or molecular genetics are encouraged to apply 12 months prior to their anticipated starting date.

Elective Rotations
Teaching is offered at several levels. A one month elective is available to fourth year medical students at the College of Physicians & Surgeons or to senior pediatric residents and fellows at the Children's Hospital of New York-Presbyterian. Students and residents from other medical schools and pediatric residencies are also invited to apply. There is a limit of two students per month.

The Training Program
The Department of Pediatrics is very enthusiastic about recruiting research-oriented residents and fellows who are interested in genetics. It is clear that Clinical Genetics extends beyond its traditional concern with dysmorphic/"syndromic" phenotypes and highly penetrant monogenic disorders, to the analysis of genetically more complex disorders such as metabolic diseases (diabetes, obesity, dyslipidemias), inflammatory bowel disease, autoimmune disorders, developmental disorders of heart, brain, etc, susceptibility and response to infection (e.g. HIV), osteoporosis, degenerative nervous system disease, and cancer susceptibility. Molecular diagnostic techniques, reagents, and clinical interventions are expanding exponentially as specific genes are implicated in specific phenotypes related to human disease.

All individuals making contact with the medical system will, in the near future, benefit from genetic insights related to diagnosis, treatments, and response to treatment. This is because virtually all human disease is the result of genetic and environmental interactions whose nature will become much clearer as the relevant genes are identified. Accordingly, medical school and hospital activities in Human Genetics are being greatly expanded. This expansion includes a major restructuring of the medical school curriculum, and an extensive, ongoing educational program for house staff, fellows (in both clinical and basic science), and faculty. Because of its clinical responsibility for prenatal/pediatric diagnostics in genetics, for children with chromosomal aneuploidies (Down syndrome, Turner syndrome, etc), and early onset monogenetic disorders (cystic fibrosis, sickle cell disease, phenylketonuria), Pediatrics is the core of the residency in Human Genetics. However, while Pediatrics is a focal point for activities in clinical and diagnostic genetics, these resources are widely available to all clinical and research venues in the institution, and genetics services are expanding to other areas of internal medicine and neurology.

The Medical Genetics training programs consists of inpatient and outpatient care of prenatal, pediatric, and adult patients with a wide variety of genetic disorders including specialty clinics for fetal therapy, craniofacial disorders, sickle cell disease, hemophelia, cystic fibrosis, congenital cardiac disease, cardiomyopathies, inherited arrhythmias, vascular anomalies, breast/ovarian/colon cancer high risk families, movement disorders, muscular dystrophies, Huntington disease, and neurodegenerative disorders. Time is also spent in all of the genetic diagnostic laboratories including cytogenetics, biochemical genetics, and DNA molecular diagnostics. Trainees are also required to take graduate courses in genetics relevant to their ultimate career goals. The last six months of the training program is dedicated to research in the lab of the trainee's choice.

The Center for Human Genetics
The many components of Genetics at Columbia and the Children's Hospital of New York consist of the following:

Clinical Genetics

• Dysmorphology
• Monogenic disorders
• Metabolism
• Perinatal genetics
• Oncogenetics
• Neurogenetics
• Newborn screening

Diagnostic Genetics

• Molecular genetics
• Cytogenetics
• Biochemical genetics

• Genome center
• Molecular genetics of monogenic disorders
• Molecular genetics of complex traits
• Model genetic organisms
• Related areas of genetic investigation:
  • Bioinformatics
  • Medical Informatics
  • High Throughput Genotyping (e.g. SNP and microsatellite analysis)
  • Large Scale resequencing of Human DNA
  • Transgenic Mouse Models
  • Oligonucleotide and cDNA Microarrays
  • Genetic Epidemiology
  • Statistical Genetics
  • Proteomics

• Gene transfer
• Enzyme replacement therapy