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. ■ Phenylketonuria ■ Prader-Willi Syndrome ■ Cystathionine beta-synthase deficient homocystinuria ■ Thymidine kinase 2 deficiency ■ Hyperammonemia due to methylmalonic acidemia and propionic acidemia 13 industry- sponsored trials underway
The IU School of Medicine Department of Medical and Molecular Genetics received more than $30 million in NIH funding in 2022. *
Program distinctions
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.
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■ One of the first human genetics departments in the nation; robust tradition through IU School of Medicine of training geneticists/genetic counselors and offering counseling services ■ Ranked 6th 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) ■ 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
1 of 31 programs recognized by NORD for clinical expertise, leading-edge facilities, and mission to provide standards of specialized
Leading-edge technologies Advanced genetic testing laboratories The Indiana University Genetic Testing Laboratories is a worldwide
14 board certified physicians
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Accredited by the College of American Pathologists and certified by Clinical Laboratory
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NOTABLE PUBLICATIONS
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. Improvement Amendments 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 Professional organization affiliations CHAIR, THERAPEUTICS COMMITTEE American College of Medical Genetics and Genomics Brett H. Graham, MD, PhD MEMBER, STEERING COMMITTEE International Consortium on Ehlers-Danlos and Hypermobility Spectrum Disorders Clair Francomano, MD CHAIR, MEDICAL AND SCIENTIFIC BOARD
care and disease management for people living with rare disease and their families.
The American Journal of Human Genetics: February 2022 The Genetic Architecture of Pediatric Cardiomyopathy
Specialized programs ■ Aortopathy Program ■ Cardiomyopathy Program
Journal of the American Heart Association: September 2022
Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease Proceedings of the National Academy of Sciences (PNAS): November 2022 Combination of Common mtDNA Variants Results in Mitochondrial Dysfunction and a Connective Tissue Dysregulation
■ 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.
Medical and Molecular Genetics Volume: 2019 – 2022
New patient referrals 5,112
5,330
6,193
6,546
48 research publications in 2022
2019
2020
2021
2022
Inpatient encounters 900
942
1,305
1,389
Ehlers-Danlos Society Clair Francomano, MD
2019
2020
2021
2022
* Source: Blue Ridge Institute for Medical Research (Funding total is pediatric and adult combined.)
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Annual Report 2022 – 2023
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