Division of Medical Genetics

Research

Overview

Research in the Division of Medical Genetics is focused on cutting-edge discoveries in genetics with the goal of improving health care for patients. Our faculty is actively engaged in a multitude of research and clinical activities, many of which are multidisciplinary and involve collaborations with experts in other specialties such as cardiology, neurology, and physical therapy.

Research activities include laboratory research on the genetic basis of Glycogen Storage diseases; genome-wide screening to examine the genetic causes of congenital malformations; mechanisms of gene regulation; development of diagnostic tests for Glycogen Storage diseases and Lysosomal Storage diseases; state-of-the-art mass spectrometry methods for diagnosing and monitoring metabolic disorders, newborn screening, and research studies on drug metabolism and oxidative stress; translational research to develop new therapies for Glycogen Storage diseases and metabolic disorders; research on methods to suppress/modulate the immune response to therapeutic proteins; investigation of individual responses to enzyme replacement therapy for Pompe disease and other Lysosomal Storage diseases; clinical trials to test safety and efficacy of potential new therapies, including treatments for Down syndrome and neuromuscular disorders; studies of clinical variability, natural history and long-term complications of Glycogen Storage diseases, Lysosomal Storage diseases, Creatine Deficiency syndromes, Molybdenum Co-factor Deficiency, and Isolated Sulfite Oxidase Deficiency; as well as studies of social and ethical issues related to genetic testing of children in families with Fragile X syndrome.

New discoveries arising from this research will improve diagnosis, treatment, and counseling for individuals with these genetic disorders and their family members. Many of our faculty members are recognized as being among the leaders in their chosen area of research. For ongoing research studies in our division, please contact the appropriate faculty member.

Research Faculty

Name	Areas of Special Interest
Priya Kishnani, MD, Chief	Down syndrome, glycogen storage diseases, lysosomal storage disorders, natural history and long-term issues. Treatment strategies for these disorders (small molecule, enzyme replacement therapy).
Deeksha Bali, PhD	Biochemical and molecular diagnosis of glycogen storage diseases and lysosomal storage diseases, liver adenomas and HCC in GSDI patient population. Pompe disease and myopathy associated with various GSDs and its treatment using different treatment modalities.
Y.T. Chen, MD, PhD	Glycogen storage diseases, pharmacogenomics, Stevens-Johnson syndrome, role of a novel glucose transporter in diabetes mellitus.
Gregory Crawford, PhD	Identification and characterization of gene regulatory elements.
Yong-Hui Jiang, MD	Clinical genetics and metabolism, genetic basis of neurobehavioral disorders including autism spectrum disorder, Angelman and Prader-Willi syndromes.
Dwight Koeberl, MD, PhD	Gene therapy for inherited disorders of metabolism, including glycogen storage disease type Ia, Pompe disease, phenylketonuria, trifunctional protein deficiency, galactosemia, propionic acidemia, and hemochromatosis.
Allyn McConkie-Rosell, PhD	Genetic risk communication in childhood, genetic testing in children, Fragile X syndrome, genetic counseling.
Marie McDonald, MD	Clinical genetics, dysmorphology, Fabry disease.
David Millington, PhD	Mass spectrometry methods for diagnosis and monitoring of metabolic disorders, newborn screening, studying glucose metabolism and oxidative stress; metabolomics.
Vandana Shashi, MD	Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome), evaluation and management of children with birth defects, mental retardation and developmental delays.
Stephanie Wechsler, MD	Cardiac manifestations of genetic disorders.
Sarah Young, PhD	Biological therapy, genetic variation, genetic vectors, mass spectrometry, neonatal screening, creatinine deficiency syndromes, Molybdenum cofactor disorders, Pompe disease, urinary biomarkers.

Clinical Research

Glycogen Storage Diseases (GSDs)

GSD Type I
Clinical and Molecular Evaluations in Glycogen Storage Disease Type I
GSD Type II
Determination of Cross-Reactive Immunological Material (CRIM) status in Pompe disease based on skin fibroblast analysis and mutation analysis and the development of a blood-based CRIM assay
GSD Type III
Clinical and Molecular Evaluations in Glycogen Storage Disease Type III
GSD Type IX
Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX

Basic Research

Gene Therapy in Animal Models of Glycogen Storage Disease and Phenylketonuria
Research focused on gene therapy with viral vectors, including adeno-associated virus (AAV) vectors and adenovirus vectors.

Identification and Characterization of Gene Regulatory Elements
Now that the human genome has been sequenced, the next major hurdle genomics researchers face is understanding what the genome is telling us.
Genetic and Epigenetic Basis of Neurodevelopmental Disorders
Emphasis on genomic imprinting disorders of Angelman syndrome and Prader-Willi syndrome as well as autism spectrum disorder.

Alice and Y.T. Chen Pediatric Genetics and Genomics Research Center

In April 2006, Myozyme (recombinant acid alpha-glucosidase) was approved by the FDA for use in patients with Pompe disease, representing the culmination of efforts by YT Chen, MD, PhD, and colleagues to develop a cure for this deadly condition. With the goal of reproducing the bench-to-bedside approach that generated Myozyme and now offers hope for patients with Pompe disease, the Chens made a gift to the Department of Pediatrics to establish the Alice and YT Chen Pediatric Genetics and Genomics Research Center. This initiative focuses on single gene disorders amenable to enzyme replacement therapy or gene therapy. Priya Kishnani, MD, Chief of the Division of Medical Genetics and the lead investigator in the international clinical trials of Myozyme, serves as the Medical Director of the center.

Breakthrough Treatment for Pompe Disease 5.17.2006

Enzyme Therapy Provides Hope of First Effective Treatment for Pompe Disease 3.20.2001

Pompe Disease Therapy to Be Tested 5.24.1999