Medical Genetics Research

The Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh maintains an active basic science and clinical research program. Our research 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.

Researchers

Clinical Studies

Amish and Mennonite Research Registry

Research Contact Registry for Members of the Amish and Mennonite Communities

Read more

Enzyme Deficiency Study

Laboratory Study of Acyl-CoA Dehydrogenases

Read more

Fabry Disease Treatment with PRX102 compared to Agalsidase Beta: The BALANCE Study – Phase III

Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta

Read more

Gaucher Disease and Effects of Taliglucerase Alfa – Phase IV

Study of Elelyso™ (Taliglucerase Alfa) in Pediatric Subjects with Type 1 Gaucher Disease

Read more

Gaucher Disease Enzyme Replacement Therapy Registry

Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

Read more

Gaucher Disease Outcome Survey – The GOS Study

An Observational, International, Multi-center, Long-Term Registry of Patients with Gaucher Disease

Read more

Genetic Disorder Discovery Through DNA Sequencing

Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

Read more

Genetic Disorder Identification in Amish and Mennonite Communities

Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

Read more

Genome Sequencing of Infants in the ICU: The PISCES Study

Whole Genome Sequencing in the Intensive Care Unit Population

Read more

Hypophosphatasia (HPP) Registry

Long-term Registry of Patients with Hypophosphatasia

Read more

Inborn Errors of Metabolism Registry

Inborn Errors of Metabolism Information System (IBEM-IS)

Read more

MELAS Disorder in NW Pennsylvania Amish Community

Investigation of the Common MELAS Mutation in the Northwestern Pennsylvania Amish Community: Mutation Frequency and Effectiveness of an Educational Intervention

Read more

Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

Read more

Methylmalonic and Propionic Acidemias Natural History – The MaP Study

MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia, A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients with Organic Acidemias

Read more

MPS II (Hunter Syndrome) Outcome Survey – The HOS Study

A Global, Multi-Center, Long-Term, Observational Registry of Patients with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)

Read more

MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/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

Read more

MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase II/III

Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment

Read more

MPS IVA (Morquio) Registry: The MARS Study

Morquio A Registry Study (MARS)

Read more

MPS VI (Maroteaux-Lamy Syndrome) Registry

Mucopolysaccharidosis Type VI Clinical Surveillance Program

Read more

Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

Read more

Osteogenesis Imperfecta Treatment With BPS804 – Phase IV

Study in Adult Patients with Type I, III or IV Osteogenesis Imperfecta Treated With BPS804

Read more

Phosphomannomutase Deficiency Natural History Study

Clinical and Basic Investigations into Phosphomannomutase Deficiency

Read more

PKU Registry

PKUDOS - PKU Demographics, Outcomes, and Safety Registry

Read more

Primary Mitochondrial Disease Treatment with Elamipretide (SPIMM-203) – Phase II

Extension Trial to Characterize the Long-Term Safety and Tolerability of Subcutaneous Elamipretide in Subjects with Genetically Confirmed Primary Mitochondrial Disease

Read more

Propionic Acidemia Variant Among Amish/Mennonite – A Chart Review

Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia

Read more

Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate – Phase III

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency

Read more

Urea Cycle Disorder Registry: The THRIVE Study

Long-Term Registry of Patients With Urea Cycle Disorders

Read more

Additional Researchers

Eric Goetzman, PhD
Al-Walid A. Mohsen, PhD
Robert Nicholls, PhD
Yudong Wang, PhD

Research Staff

Jennifer Baker, MA
Danielle Black, BS
Sandra Braden, RN
Michele Graham, RN
Nadene Henderson, MS, LCGC
Angela Leshinski, RD, LDN
Jessica Lindenberger, RN
Elizabeth McCracken MS, LCGC
Tatiana Pomerantz, BS
Catherine Walsh Vockley MS, LCGC