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
NOTABLE PUBLICATIONS
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 ■ Thymidine kinase 2 deficiency ■ Hyperammonemia due to methylmalonic acidemia and propionic acidemia 15 clinical trials active or completed in 2024
The Journal of Clinical Investigation: July 2024
Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery Neurosurgical Review: January 2024 syndromes: Outcomes analysis following occipito-cervical fusion Journal of Racial and Ethnic Health Disparities: October 2024 Exploring genetic counselors’ experiences with indigenous patient populations Craniocervical instability in patients with Ehlers-Danlos Journal of Cachexia, Sarcopenia and Muscle: December 2024 Sucla2 knock-out in skeletal muscle yields mouse model of mitochondrial myopathy with muscle type-specific phenotypes
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
■ 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
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
Accredited by the College of American Pathologists and certified by Clinical Laboratory
The IU School of Medicine Department of Medical and Molecular Genetics received nearly $40 million in NIH funding in 2024. *
■ 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
Improvement Amendments
available in cytogenetics, biochemical genetics, pharmacogenetics and molecular genetics.
43 research publications in 2024
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.
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
Medical & Molecular Genetics Volume: 2020 – 2024
DIRECTOR Brett H. Graham, MD, PhD Professor of Medical and Molecular Genetics and Pediatrics, IU School of Medicine > Connect with Dr. Graham on Doximity.
Unique patient encounters 4,791 5,647 6,241 6,841 9,586 2020 2021 2022 2023 2024
Outpatient encounters 5,229 6,242 6,267 7,249 9,648 2020 2021 2022 2023 2024
13 board certified physicians
See full team member list >
* Source: Blue Ridge Institute for Medical Research (Funding total is pediatric and adult combined.)
Annual Report 2024 – 2025
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