Ahmad, Ayesha M.D.
Specialties: Pediatrics; Clinical Genetics; Clinical Biochemical Genetics
Clinical Interests: Inborn errors of metabolism and clinical biochemical genetics; newborn screening for lysosomal storage disorders; expanded newborn screening for inborn errors of metabolism
Research Interests: Evaluation of long term outcomes and best practice guidelines for management of patients with inborn errors of metabolism; outcomes of patients with metabolic diseases detected pre-symptomatically by newborn screening; liver cell therapy for urea cycle disorders
Ames, Elizabeth M.D., Ph.D.
Specialties: Pediatrics, Clinical Genetics, Medical Biochemical Genetics
Clinical Interests: RASopathies, neuromuscular genetics, and NBS for XALD, SMA
Research Interests: Follow up of newborn screening disorders, TANGO2-related metabolic encephalopathy and arrhythmias, Pompe disease, and cystinosis
Fisher, Rachel M.S., CGC
Specialty: Genetic Counseling and Newborn Screening for Lysosomal Storage Disorders
Clinical Interests: Pediatric genetics
Research Interests: Follow up and early initiation of treatment in patients with lysosomal storage disorders identified pre-symptomatically by newborn screening; Creation of educational materials for lysosomal storage disorders
Glassford, Megan M.S., CGC
Specialty: Genetic Counseling
Clinical Interests: Pediatric genetics
Research Interests: 3q29 deletion syndrome
Hannibal, Mark Charles M.D., Ph.D.
Specialties: Pediatrics; Clinical Genetics
Clinical Interests: Kabuki Syndrome, Immunohematology
Keegan, Catherine Elizabeth M.D., Ph.D.
Specialties: Pediatrics; Clinical Genetics
Clinical Interests: Pediatric Genetics; Disorders of Sex Development
Research Interests: Urogenital development, Caudal development, Telomere dysfunction and genomic instability
Lee, Kristen M.D.
Specialties: Pediatrics, Clinical Genetics, Medical Biochemical Genetics
Martin, Donna Marie M.D., Ph.D.
Specialties: Pediatrics; Clinical Genetics
Clinical Interests: Clinical Genetics; Autism; Disorders of Neural Development, CHARGE Syndrome
Research Interests: Genetic Basis of Neuronal Development
O’Connor, Bridget M.S., CGC
Specialty: Genetic Counseling
Clinical Interests: Pediatric genetics and provision of services to underserved areas of Michigan
Research Interests: Decision support tool development and impact; outcomes of next generation sequencing efforts
Omark, Jessica M.S., CGC
Specialty: Genetic Counseling
Clinical Interests: Pediatric genetics
Research Interests: Barriers to uptake of genetic testing
Pritchard, Amanda Barone M.D. Specialties: Pediatrics, Clinical Genetics, Medical Biochemical Genetics
Clinical interests: inborn errors of metabolism, hepatopathies, multiple congenital anomaly syndromes, ophthalmology genetics
Research interests: newborn screening, treatment of genetic disease, clinical trials, and delineation of newly recognized genetic syndromes
Quinonez, Shane C. M.D.
Specialties: Pediatrics; Clinical Genetics; Clinical Biochemical Genetics
Clinical Interests: Clinical Genetics; Inborn errors of metabolism and clinical biochemical genetics
Research Interests: The introduction of genetic services into low and middle-income countries with current areas of active investigation in Ethiopia and Ghana
Thoene, Jess G M.D.
Specialty: Pediatrics, Inborn errors of metabolism
Clinical Interests: Inborn errors of metabolism: cystinosis, urea cycle defects, organic acidemias
Research Interests: Role of aberrant apoptosis in causing the nephropathic phenotype in cystinosis and cystinosin replacement in cystinosis; Microvesicle-mediated delivery of functional cystinosin in vitroand ex vivo
