Investigator :

Bruce D Gelb MD Professor

bruce.gelb@mssm.edu

DIRECTOR MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE

PROFESSOR | Pediatrics, Cardiology

PROFESSOR | Genetics and Genomic Sciences

Research Topics:

Cardiovascular, Gene Discovery, Human Genetics and Genetic Disorders, Signal Transduction, Stem Cells.

Faculty :

Amy Kontorovich MD PhD Assistant Professor

amy.kontorovich@mountsinai.org

Myocarditis, most often caused by viral infection, is associated with considerable morbidity and mortality in adults and children, causing more than 10% of cases of dilated cardiomyopathy and sudden cardiac death in adults. Little is known about the pathogenesis of viral infection or replication in human myocardium. We have overcome this challenge by developing an in vitro model of myocarditis using human induced pluripotent stem cells. Cardiotropic viruses are quite common in the environment, with over half the population seropositive for coxsackievirus, yet most infected individuals have no apparent clinical manifestations and the vast majority never develop myocarditis. Human genetic variation may therefore be important in the phenotypic evolution of myocarditis and may determine the fate of disease in infected individuals. Hence, we are investigating genetic factors that underlie individual predilection towards versus protection from myocardial injury following viral infection.

Resident:

Felix Richter MD PhD Pediatrics Resident Physician

felix.richter@mssm.edu

Felix Richter is a current Pediatrics Resident Physician and graduate of the ISMMS MD/PhD program. He conducted his thesis work on the genetics of congenital heart disease (CHD) under the mentorship of Bruce Gelb, MD, and Eric Schadt, PhD, demonstrating a role for noncoding de novo variation in CHD (Richter, et al, Nature Genetics, 2020). His past research has spanned whole genome sequencing, RNAseq, embryology, pediatrics, neuropsychiatric traits, cardiology, and Covid-19. As a member of the Gelb Lab, Felix is continuing his work on noncoding variation in larger cohorts and with ever-improving algorithms.

Post-Doctoral Fellows:

Nelson Rodriguez PhD

nelson.rodriguez@mssm.edu

I utilize gene editing tools and iPSC technology to study mutations associated with congenital heart disease in children.

Kimberly Stephens PhD

kimberly.stephens2@mssm.edu

I utilize a Drosophila model to test potential therapeutics on RASopathies

Graduate Students:

Clifford Liu

clifford.liu@icahn.mssm.edu

I am an MD/PhD student in the Development, Regeneration, and Stem Cells training track. My thesis work is focused on elucidating allele-specific mechanisms of hypertrophic cardiomyopathy in Noonan syndrome and related disorders. Additionally, I am interested in understanding the mechanisms hat cardiac valve defects in Noonan syndrome. Utilizing iPSC technology, atranscriptomics. I hope to uncover the mechanisms central to the pathogenesis of these diseases. Outside the Lab, I enjoy working out and exploring the diverse New York City food scene.

Cindy Wang

cindy.wang@icahn.mssm.edu

I am a masters student in the Gelb Lab. My thesis is based on using CRIMIC technology to test the impact of RASopathy allels when expressed at physiologic levels.

Lab Members:

Simon Ng

simon.hg1@mssm.edu

Investigation of human genetic disposition of acute viral myocarditis using human iPSC-derived cardiomyocyte models.

Priyal Agrawal

priyal.agrawal@mssm.edu

I am involved in the screening and enrollment of subjects for clinical research studies such as GEMINI, Congenital Heart Disease Genetic NEtwork Study and Undiagnosed Disease Program.

Sereene Kurzum

sereene.kurzum@mssm.edu

I am an Associate Researcher with the Gelb Lab. My research focuses on the genetic and molecular causes and effects of the RASopathies as modeled in Drosophila.