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Human Genetics

Human Genetics / Pediatrics Combined Residency Program Overview

The Division of Human Genetics at Cincinnati Children's Hospital Medical Center offers a two-year fellowship along with a Human Genetics / Pediatric Residency Program five-year combined accredited fellowship in Medical Genetics leading to eligibility for certification in both Genetics and Pediatrics. This program has been approved by both The American Board of Pediatrics and The Board of Human Genetics. Applicants match to this program by matching with the categorical pediatric program as the first year is identical to the PL-1 year. Applicants are urged to make their interest in this option known at the time of applying through ERAS.

Applicants should have completed a GME approved primary care residency. The Medical Genetics Fellowship prepares the candidate for an academic career with an emphasis in clinical genetics.

The Department of Pediatrics at Cincinnati Children's Hospital 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.

There are options as how this may be done:

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

The Training Program

The Department of Pediatrics is very enthusiastic about recruiting research-oriented residents 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), autoimmune disorders, developmental disorders of heart and brain, susceptibility and response to infection, osteoporosis, degenerative nervous system disease, and cancer susceptibility.

The 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 program consists of a wide variety of genetic disorders including specialty clinics for fetal therapy, craniofacial disorders, sickle cell disease, hemophelia, cystic fibrosis, congenital cardiac disease, breast/ovarian/colon cancer in high risk families, Huntington disease, and neurodegenerative disorders. Trainees are also required to take graduate courses in genetics relevant to their ultimate career goals.

Areas of Focus in the Division of Human Genetics

Human Genetics areas of focus at Cincinnati Children's consist of:

Clinical

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

Diagnostic Genetics

  • Molecular genetics
  • Cytogenetics
  • Biochemical genetics

Research Genetics

  • Genome center
  • Molecular genetics of monogenic disorders
  • Molecular genetics of complex traits
  • Model genetic organisms
  • Related areas of genetic investigation:
    • Bioinformatics
    • Genetic Epidemiology
    • Statistical Genetics

Therapeutic Genetics

  • Gene transfer
  • Enzyme replacement therapy