The Division of Medical Genetics and Genomics is committed to excellence in providing comprehensive services for children, adults and prenatal patients in the diagnosis, treatment, and management of genetic conditions.

Education

Education and assistance to practicing physicians and allied healthcare providers throughout the state is provided through the division so that they can also improve healthcare by properly referring and managing patients with genetic disorders.

Residency Programs

The Division of Medical Genetics and Genomics, located in the University of Iowa Stead Family Department of Pediatrics, offers two residency programs:

  1. Medical Genetics and Genomics Residency Program, a two-year accredited program, provides clinical medical geneticists with the skills necessary for comprehensive diagnostic, management and genetic counseling services for patients and families with genetic disorders and birth defects.
  2. Pediatric & Medical Genetics and Genomics Residency Program, a combined four-year residency whose graduates are board-eligible in both Pediatrics and Medical Genetics and Genomics.

Fellowship Program

The division's outstanding Laboratory Genetics and Genomics Fellowship is a two-year accredited program  that provides trainees with experience in interpreting a wide range of clinical cytogenetic and molecular genetic tests for the diagnosis and management of human genetic disorders and cancer.

A Faculty-focused Academic Medical Center

UI Health Care faculty enjoy defined academic time, plus benefits like doubling your retirement contribution. With a short commute and low cost of home ownership, it's no surprise we attract the best academically trained providers.

Research

The Division of Medical Genetics and Gemonics is home to the Shivanand R. Patil Cytogenetics and Molecular Laboratory.  The lab is a nationally accredited, CAP-inspected, CLIA certified facility that tests and analyzes subtle changes in genes and chromosomes to assist in the diagnosis of complex developmental problems in children and adults using state-of-the-art methods. The laboratory performs conventional chromosome analysis, fluorescence in situ hybridization (FISH), and chromosomal microarrays for a myriad of indications including cancer diagnosis/prognosis as well as both post and pre-natal genetics.

The Iowa Newborn Screening Dried Blood Spot Program is administered by the Iowa Department of Public Health (IDPH), and contracts with the State Hygienic Laboratory at the University of Iowa to perform screening, quality improvement and educational activities with the Stead Family Department of Pediatrics to provide follow up on abnormal screens, genetic counseling, education and quality improvement activities. All babies born in Iowa receive blood spot screening, hearing screening and critical congenital heart disease screening (pulse oximetry). 

Division Investigators and Labs

Labs

Investigators

  • John Bernat, MD, PhD
  • Bharatendu Chandra, MBBS:  Diagnosis, management, and study of rare neurological disorders.
  • Benjamin Darbro, MD, PhD: Studies genetic determinants of neurodevelopmental disorders, molecular mechanisms of cancer, and how the two seemingly unrelated conditions overlap at a genetic-network level. We perform our own bioinformatics and are actively engaged in the development of new analysis tools to better meet our needs and those of the scientific community.
  • Hatem El-Shanti, MD: Studies the identification of genetic factors that are responsible for human disorders with the goal of identifying biologic mechanisms and pathways underlying physiologic and developmental processes. Interested in studying rare single gene disorders, using multiple approaches including homozygosity mapping in the context of consanguinity, as well as genome sequencing.
  • Mark Schultz, PhD: Studies protein homeostasis and the underlying genetic causes of rare inherited childhood diseases.
  • Val Sheffield, MD, PhD: Research efforts have focused on the molecular genetics of monogenic disorders, as well as polygenic and multifactorial disorders. 
  • Moon Ley Tung, MBBS: Gene discovery in patients with inherited bone marrow failure syndromes and hereditary hematological malignancies.

Recent Division Publications

Our research supports the rapid translation of laboratory discoveries into new treatments.

Clinical Care

The division's multidisciplinary team is comprised of board certified medical geneticists, a molecular genetic pathologist, physician assistants, nurse practitioners, genetic counselors, nurses, and dietitians. 

Our clinics include: General Genetics Clinics, Metabolic Genetics Clinics, Connective Tissue Disorder Clinics, Neurofibromatosis Clinics, Cancer Predisposition, Multidisciplinary Tuberous Sclerosis Clinics, and Outreach Genetics Clinics.

Genetic diseases and disorders affect families as well as individuals. The medical team provides the information, support, and follow-up needed to make informed decisions.

Our medical genetics team collaborates with state and federal agencies, educators, researchers, support groups and others to provide the latest information and treatment options for Iowans and their families.

 Learn about our clinics and services and request an appointment.

Services we offer include, but are not limited to:

  • Cancer Predisposition Clinic
  • General Genetics Clinic
  • Neurofibromatosis (NF) Clinic
  • Newborn Screening Follow Up Program
  • Shivanand R. Patil Cytogenetics and Molecular Laboratory
  • Tuberous Sclerosis Complex (TSC) Multidisciplinary Clinic

Latest Division News

Designated a TSC Center of Excellence

Monday, February 17, 2025

Join our team

Medical Geneticist

Explore all Jobs

Faculty jobs | Staff Jobs

Hatem El-Shanti, MD

Hatem El-Shanti, MD

Division Director

Richard O. Jacobson Foundation Chair in Pediatrics

Division Contact Information

University of Iowa Stead Family Department of Pediatrics
Division of Medical Genetics and Genomics
200 Hawkins Drive
2857 John Pappajohn Pavilion (JPP)
Iowa City, IA 52242

Support the Department

Your contribution is more than a donation, it can change the future of pediatrics.