School of Medicine
Showing 1-10 of 22 Results
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Gill Bejerano
Professor of Developmental Biology, of Computer Science and of Pediatrics (Genetics)
On Partial Leave from 2026-07-16 To 2026-08-31Current Research and Scholarly Interests1. Automating monogenic patient diagnosis.
2. The genomic signatures of independent divergent and convergent trait evolution in mammals.
3. The logic of human gene regulation.
4. The reasons for sequence ultraconservation.
5. Cryptogenomics to bridge medical silos.
6. Cryptogenetics to debate social injustice.
7. Managing patient risk using machine learning.
8. Understanding the flow of money in the US healthcare system. -
Jon Bernstein
Professor of Pediatrics (Genetics) and, by courtesy, of Genetics
Current Research and Scholarly InterestsMy research is focused on the diagnosis, discovery and delineation of rare genetic conditions with a focus on neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, long-read DNA sequencing, RNA sequencing, methylomics, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell and assembloid models of genetic neurodevelopmental disorders.
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Tina Cowan
Professor of Pathology (Clinical) and, by courtesy, of Pediatrics (Genetics)
Current Research and Scholarly Interestsscreening and diagnosis of patients with inborn errors of metabolism, including newborn screening, development of new testing methods and genotype/phenotype correlations.
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John W. Day, MD, PhD
Professor of Neurology and Neurological Sciences (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology
Current Research and Scholarly InterestsOur Neuromuscular Division coordinates a comprehensive effort to conquer peripheral nerve and muscle disorders, including the muscular dystrophies, motor neuron disorders, neuromuscular junction abnormalities, and peripheral neuropathies. With patients and families foremost in mind, we have had success defining and combating these diseases, with research focused on identifying genetic causes, developing novel treatment, and maximizing patient function by optimizing current management.
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Gregory Enns
Professor of Pediatrics (Genetics)
Current Research and Scholarly Interestsmitochondrial genomics, lysosomal disorders, tandem-mass spectrometry newborn screening, and inborn errors of metabolism presentations and natural history
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Uta Francke
Professor of Genetics and of Pediatrics, Emerita
Current Research and Scholarly InterestsFunctional consequences and pathogenetic mechanisms of mutations and microdeletions in human neurogenetic syndromes and mouse models. Integration of genomic information into medical care.
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Natalia Gomez-Ospina
Assistant Professor of Pediatrics (Genetics)
Current Research and Scholarly Interests1. Genome Editing and HSPC-Based Therapeutics
Dr. Gomez-Ospina’s research focuses on developing autologous hematopoietic stem and progenitor cell therapies using CRISPR/Cas9-mediated genome editing. Her work includes targeted integration of therapeutic transgenes into genomic safe-harbor loci, optimization of editing efficiency and safety, and development of transplantation and conditioning strategies that preserve long-term engraftment. A major goal is to create reusable, mutation-agnostic therapeutic platforms that can be adapted across diseases. Her translational work also extends to GMP manufacturing, analytical development, and IND-enabling studies needed to move genome-edited HSPC products toward clinical trials.
2. Neurometabolic and Neurodegenerative Disease Therapeutics
A major area of interest is the development of definitive therapies for lysosomal storage disorders and other neurogenetic diseases, including MPS I, Gaucher disease, Krabbe disease, progranulin deficiency, and Friedreich’s ataxia. Her laboratory investigates how hematopoietic-derived cells can deliver therapeutic proteins to peripheral tissues and the central nervous system. This includes strategies to enhance microglial replacement, improve CNS engraftment, and harness myeloid cells as therapeutic vehicles. The broader objective is to establish cell-based approaches capable of treating both inherited neurometabolic disorders and more common neurodegenerative diseases.
3. Rare Disease Genetics, Functional Genomics, and Lysosome Biology
Dr. Gomez-Ospina also studies the molecular basis of rare and undiagnosed genetic disorders. Through clinical genetics, international collaborations, and the NIH Undiagnosed Diseases Network, her work contributes to novel disease-gene discovery, functional validation of candidate variants, and definition of genotype–phenotype relationships. Her laboratory also investigates lysosomal biology and develops systems-level approaches, including the Lysosome Disease Atlas, to connect lysosome-associated genes with cellular function and human phenotypes. These efforts aim to improve diagnosis while identifying new disease mechanisms and therapeutic opportunities.
For more information go to our website:
https://www.gomezospina.com/
