Expert medical geneticists at Riley Children’s Health offer evaluation and management of a wide variety of genetic conditions. As one of the largest providers of genetics services in the Midwest, Riley Children’s offers genetic assessment, testing, treatment and counseling for individuals or families touched by inherited conditions, chromosomal disorders or other genetic disease. MEDICAL & MOLECULAR GENETICS
RESEARCH HIGHLIGHTS
Riley Children’s is considered a high-enrolling site for genetics clinical trials. Trials range from rare disease registries/natural history studies to Phase I to Phase III trials for diseases, including: ■ Phenylketonuria ■ Prader-Willi Syndrome ■ Cystathionine beta-synthase deficient homocystinuria ■ Pompe disease/Lysosomal storage diseases ■ Hyperammonemia due to methylmalonic acidemia and propionic acidemia 14 clinical trials active or completed in 2025
1 of 40 programs recognized by NORD for clinical expertise, leading-edge facilities and a mission to provide standards of specialized care and disease management for people living with rare disease and their families.
TOP DISTINCTIONS
Leader in education and training ■ Genetics residency program and combined pediatrics- medical genetics residency program ■ Laboratory genetics and genomics fellowship program ■ More than 300 students trained ■ 25 years of training genetic counselors ■ Genetics track for IU Health
■ One of the first human genetics departments in the nation; robust tradition through Indiana University School of Medicine of training geneticists/genetic counselors and offering counseling services ■ Designated a Rare Disease Center of Excellence by the National Organization of Rare Disorders (NORD) ■ Ranked fourth in the nation among genetics departments for National Institutes of Health (NIH) grant funding ■ Designated as an NIH-funded Undiagnosed Disease Network (UDN) Clinical Site/NIH UDN Diagnostic Center of Excellence ■ Broad subspecialty expertise in biochemical genetics, cancer genetics, cardiovascular genetics, connective tissue disorders, immunogenetics, maternal fetal medicine, mitochondrial disorders, neurogenetics, ocular genetics and skeletal dysplasia ■ Coordinates care for patients in Indiana identified through the newborn screening program with inborn errors of metabolism, cystic fibrosis, lysosomal storage diseases, neurogenetic disorders and inborn immunodeficiency
Specialized programs ■ Aortopathy Program ■ Cardiomyopathy Program
The IU School of Medicine Department of Medical and
NOTABLE PUBLICATIONS
■ The Center for Ehlers-Danlos Syndromes (supported by the Ehlers-Danlos Society) ■ Ocular Genetics Program ■ Deaf and Hard of Hearing Program ■ Bone Dysplasia Program ■ Perinatal Genomics Program ■ Pediatric Cancer Predisposition Program
56 research publications in 2025
JACC Advances: January 2026 Missed and misdiagnosed: Precision medicine approaches to screening for familial hypercholesterolemia and lipoprotein(a) Pediatrics: July 2025 Standardized criteria for genomic testing in the NICU Brain: August 2025 De novo and inherited variants in DDX39B cause a novel
Molecular Genetics received more than $46 million in NIH funding in 2025 . *
postgraduate advanced practice provider training program
Riley Children’s also has an undiagnosed rare disease program and genome board for ultrarare disease diagnosis; assessments include thorough clinical phenotyping, whole genome sequencing, transcriptomics and metabolomics.
neurodevelopmental syndrome Pediatric Research: March 2025 Genomics of pediatric cardiomyopathy
Advanced technologies The Indiana University School of Medicine Genetic Testing Laboratories is a worldwide leader in innovative laboratory research and development. We offer an extensive array of highly complex and unique medical tests available in cytogenetics, biochemical genetics, pharmacogenetics and molecular genetics.
Accredited by the College of American Pathologists and certified by Clinical Laboratory
Medical & Molecular Genetics Volume: 2021 – 2025
Unique patient encounters 5,647 6,241 6,841 9,586 12,510 2021 2022 2023 2024 2025
Improvement Amendments
DIVISION CHIEF Brett H. Graham, MD, PhD Professor of Medical and Molecular Genetics and Pediatrics, IU School of Medicine > Connect with Dr. Graham on Doximity.
In 2025, our genetics testing laboratories became the sole provider of rapid whole genome sequencing for inpatients in the IU Health academic health center. This collaboration between clinical and testing laboratory teams promotes leading-edge clinical genomics care and research.
Outpatient encounters 6,242 6,267 7,249 9,648 13,168 2021 2022 2023 2024 2025
13 board certified physicians
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See full team member list
* Source: Blue Ridge Institute for Medical Research (Funding total is pediatric and adult combined.)
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