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 AND 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 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 2023
INTERIM DIRECTOR Brett H. Graham, MD, PhD Associate Professor of Medical and Molecular Genetics and Pediatrics, IU School of Medicine > Connect with Dr. Graham on Doximity.
PROGRAM DISTINCTIONS
1 of 40 programs recognized by NORD for clinical expertise, leading-edge facilities,
■ 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 ■ Ranked 5th in the nation among genetics departments for National Institutes of Health (NIH) grant funding ■ Designated a Rare Disease Center of Excellence by the National Organization of Rare Disorders (NORD)
14 board certified physicians
and a mission to provide standards
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of specialized care and disease management for people living with rare disease and their families.
Advanced technologies The Indiana University School of Medicine Genetic Testing Laboratories is a worldwide leader in innovative laboratory research
Accredited by the College of American Pathologists and certified by Clinical Laboratory
NOTABLE PUBLICATIONS Genetics in Medicine: February 2023 Solid Organ Transplantation in Methylmalonic Acidemia and Propionic Acidemia: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine Open: April 2023 A Multicenter Cross-Sectional Study in Infants With Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing But Variable Evaluation Practices Journal of the American Heart Association: September 2023 A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease Cell Reports: October 2023 Loss of Succinyl-CoA Synthetase in Mouse Forebrain Results in Hypersuccinylation With Perturbed Neuronal Transcription and Metabolism
Improvement Amendments
Specialized programs ■ Aortopathy Program ■ Cardiomyopathy Program
and development. We offer an extensive array of highly complex and unique medical tests available in cytogenetics, biochemical genetics, pharmacogenetics and molecular genetics. 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
■ Designated as a NIH Undiagnosed Disease Network Diagnostic Center of Excellence
■ 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 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.
48 research publications in 2023
■ 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
Medical and Molecular Genetics Volume: 2020 – 2023
Unique patient encounters 4,791 5,647
6,241 6,841
2020
2021
2022
2023
Outpatient encounters 5,229 6,242
The IU School of Medicine Department of Medical and Molecular Genetics received more than $37 million in NIH funding in 2023. *
6,267 7,249
2020
2021
2022
2023
* Source: Blue Ridge Institute for Medical Research (Funding total is pediatric and adult combined.)
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Annual Report 2023 – 2024
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