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Pediatric Genetics, Metabolism & Genomic Medicine
Division of Pediatric Genetics, Metabolism & Genomic Medicine
Providing service in the diagnosis, treatment and prevention of genetic diseases.
The U-M Medical School Department of Pediatrics Division of Pediatric Genetics, Metabolism & Genomic Medicine team specializes in the diagnosis, evaluation, management and counseling of children and families affected by birth defects, inborn errors of metabolism, inherited diseases, chromosomal abnormalities, cancer genetic syndromes and neurodevelopmental disorders such as autism and intellectual disability.
Clinical Care
We provide a comprehensive range of services, including:
- Diagnostic evaluation to identify genetic conditions
- Expert genetic counseling for patients and families
- Advanced biochemical laboratory testing (including GC/MS and HPLC) and dietary management strategies
- Molecular and DNA diagnostic testing (chromosomal microarray, Fragile X testing, DNA sequencing, methylation analysis)
- Referrals to subspecialists as needed
- Clinical Trials
In addition to caring for patients with known or suspected hereditary conditions, we support individuals and families who have concerns about their genetic risks. Our experts assess risk, explain testing options, deliver compassionate counseling and connect families with ongoing resources and care.
Contact Us
Division of Pediatric Genetics, Metabolism and Genomic Medicine
1500 East Medical Center Drive
D5240 MPB/Box 5718
Ann Arbor, MI 48109-5718
Education
The Medical Genetics Residency Program - based in our Division in the Department of Pediatrics - utilizes combined clinical genetics services, basic science research and education programs of six Medical School departments. The primary goals are Board Certification in Medical Genetics and preparation for a clinical or research career in academic genetics. We also offer combined training in Pediatrics and Medical Genetics. Training leading to Board Certification in Laboratory Genetics and Genomics is also offered.
Educational Opportunities
Research
- Evaluation of long term outcomes and best practice guidelines for management of patients with inborn errors of metabolism; and outcomes of patients with metabolic diseases detected pre-symptomatically by newborn screening
- Developing biomarkers for inborn errors of metabolism and promoting novel therapeutics for the care of patients with rare diseases
- Genetics of Kabuki Syndrome
- Urogenital and caudal development, Telomere dysfunction and genomic instability
- Modeling epigenetic disorders to treat human disease
- Role of aberrant apoptosis in causing the nephropathic phenotype in cystinosis
The Martin Lab
The Martin Lab collaboratively studies the chromodomain gene CHD7 in the inner ear and central nervous system, focusing on genes predicted to influence neuronal differentiation and migration. Learn more about the Martin Lab.
Opportunities for Excellence
The Department of Pediatrics includes 17 clinical divisions and over 300 faculty members. Join our dynamic team dedicated to advancing pediatric care, education and research.
Your Gift is Invaluable
Your gift can help our pediatricians provide the highest-quality care for children while contributing to significant advances in patient care, research, and education.
Division Leadership
Catherine Elizabeth Harnden Keegan, MD, PhD
Professor of Pediatrics
Division Director of Pediatric Genetics Metabolism and Genomic Medicine
Professor of Human Genetics
Fellowship Director Pediatric Medical Biochemical Genetics
Residency Director Pediatric Medical Genetics and Genomics
Medical School
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