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To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
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For more information about research, please call our main office at 412-692-6438.
Children's Hospital is ranked One of America's Best Children's Hospitals.
The Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC is committed to the treatment and study of genetic disorders in children, providing advanced patient care of the highest quality and an active research program dedicated to providing a deeper understanding of the fundamental issues underlying these disorders and developing better therapeutic approaches.
Clinical services, a critical part of the comprehensive care offered by the Division of Medical Genetics, include diagnosis, evaluation, treatment and management of a range of genetic conditions, such as birth defects, chromosomal abnormalities, specific genetic syndromes and inborn errors of metabolism. These services are organized under two programs: an Inborn Errors of Metabolism Clinic and a General Genetics Clinic. Both offer an experienced team of faculty and staff, including physician geneticists, genetic counselors, a nurse practitioner, metabolic dietitian and social worker.
We’re committed to nurturing the next generation of pediatric specialists.
Children’s is at the forefront of medical research and innovation.
Schedule an appointment or consultation with us at 412-692-5070.
Inborn Errors of Metabolism Clinic
The Inborn Errors of Metabolism Clinic at Children’s Hospital provides diagnostic services, evaluation, treatment management, genetic counseling and other support to children with these inherited disorders and to their families. A Phenylketonuria Clinic specializes in the diagnosis, treatment and management of one of the most common inborn errors of metabolism.
General Genetics Clinic
The General Genetic Clinic provides diagnostic evaluations, appropriate treatment, follow up and support for children with known or suspected genetic disorders that fall outside the scope of the division’s Inborn Errors of Metabolism Clinic.
Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help to identify families at risk, serve as patient advocates, help families understand genetic disorders and their consequences, provide supportive counseling and counsel families who may be at risk for inherited conditions. Division staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support.
Research within the division is providing new insight into genetic disorders from which new and better therapies can be developed. The laboratory research program focuses on discovering the underlying causes of genetic diseases, understanding the clinical implications of mutations in genes, and development of novel approaches for treatment of genetic disorders. An active clinical research program collaborates with other genetic programs world wide to evaluate new therapies for genetic disease.
Referrals from primary care physicians, medical and social agencies or other Children’s Hospital specialty services are helpful, but not necessary. Authorization from the patient’s insurance provider and/or primary care physician may be needed for insurance coverage. The Division of Medical Genetics staff can help with these matters. Medical records from previous medical evaluations may be requested. For more information, please call the office number listed.
Research Contact Registry for Members of the Amish and Mennonite Communities
Dietary Therapy for Inherited Disorders of Energy Metabolism
Laboratory Study of Acyl-CoA Dehydrogenases
Extension Study to Evaluate the Long-Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease
Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease
Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders
Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Long-term Registry of Patients with Hypophosphatasia
Extension Study in Subjects with Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies
Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency
Evaluating Safety and Glycosaminoglycans in Adult Patients with Hurler-Scheie or Scheie Syndrome who have Completed 8-Weeks of Dosing with AGT-181 in Study AGT-181-102
Study of a Human Insulin Receptor Monoclonal Antibody-Human alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients with Mucopolysaccharidosis Type I
Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients with Mucopolysaccharidosis Type II
Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment
Morquio A Registry Study (MARS)
Mucopolysaccharidosis Type VI Clinical Surveillance Program
Long-Term Extension of a Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with Phenylketonuria (PAL-003)
Study to Evaluate the Efficacy and Safety of Subcutaneous Injections of BMN 165 Self Administered by Adults With Phenylketonuria
Study of Glycerol Phenylbutyrate (GPB; Ravicti®) in Children Under 2 Years of Age with Urea Cycle Disorders
Long-Term Registry of Patients With Urea Cycle Disorders
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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