Genetics
(414) 266-2979
Overview
Pediatric Genetics provides diagnostic and counseling services to patients and families with suspected or diagnosed genetic disorders or birth defects. Services are provided directly or in collaboration with other providers and resources to meet the mission of providing high-quality, family-centered patient care, education, prevention, research and advocacy. Our team of specialists offers diagnosis and treatment for general genetics, neurofibromatosis, velocardiofacial syndrome (DiGeorge syndrome), metabolic disorders, phenylketonuria and newborn screening follow-up.
Specialty Highlights
- Our specialists participate in several specialty clinics including anemia, cystic fibrosis, muscular dystrophy, hemophilia, cleft palate, and craniofacial and cancer genetics screening.
- One of four national referral centers for fatty acid oxidation disorders.
- One of two centers in southeastern Wisconsin performing first trimester prenatal genetic diagnosis with chronic villus sampling.
- Clinical expertise in autism, metabolic and mitochondrial diseases.
- Only comprehensive pre-implantation genetic diagnostic program in the state.
- State-of-the-art enzyme replacement therapy for Fabry disease, Gaucher disease and Mucopolysaccharidosis Type I and its variants.
 William Rhead, MD, is listed in the 2007-2008 Best Doctors in America® database. The physicians on this list represent the top 3 to 5 percent of the nation's practicing board-certified physicians.
Research
- Regularly participate in clinical trials to test enzyme replacement therapy for various lysosomal storage disorders.
- Research programs include biochemical genetics, inborn errors of metabolism, organic acidemias, mitochondrial diseases, multiple congenital anomaly syndromes, neurodevelopmental disorders and the theoretical relationships of birth defects.
- Fatty acid oxidation disorders.
- Gene defects/problems causing mental retardation (neurodevelopmental problems).
- Mitochondrial disorders.
- Gene defects causing eye disease/syndromes.
Genetics Team
Pediatric Genetics is comprised of board-certified clinical medical geneticists and genetic counselors that have special training in the field of medical genetics.
Programs within Pediatric Genetics focus on:
Neurofibromatosis.
Velocardiofacial syndrome.
Metabolic disorders.
Mitochondrial disease.
Phenylketonuria (PKU).
Lysosomal storage diseases.
Newborn screening follow-up.
General genetics.
- Click here to view a listing of our geneticists, including their specialties and bios.
Programs & Clinics
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