Laboratories & Research Groups

Our expanding Institute is home to faculty who are subject matter experts in diverse areas of multidisciplinary research, including allergy and asthma, cardiovascular disease, neurodevelopmental disorders, obesity and diabetes, and more. Physician-scientists and scientists at MCHDI work in a multidisciplinary manner with researchers and physicians in various departments and institutes at the Icahn School of Medicine at Mount Sinai. Together, we strive toward the objectives of developing robust paradigms for understanding the effects of genetics and environment on the health of infants, children and adolescents, and personalizing pediatric medicine through genetics and genomics.

The past decade has witnessed unprecedented advances in our understanding of diseases primarily affecting infants, children, and adolescents. The engine for the rapid discovery of the causes of pediatric disorders has been genomics, particularly the deciphering of the complete DNA code of the human genome. Thousands of simply inherited medical traits, many described decades or even centuries before, have now been explained. Armed with the knowledge of root cause, translational researchers have developed genetic tests to hone diagnostic and prognostic accuracy as well as innovated with therapies that improve the quality and length of the lives of youngsters once tragically limited.

Many of the greatest challenges to human health, particularly illnesses of childhood, have strong genetic components but are not inherited in simple patterns. Until now, such disorders have defied scientific inquiry. The most recent technologic advances, particularly for DNA sequencing, have brought us to a breathtaking juncture: It is now possible to sequence all of the protein-encoding portions of the human genome in a matter of days and widely anticipated that entire human genomes will be affordably decodable in just a few years.

With great genomic advances come remarkable translational research possibilities. Prevalent pediatric diseases such as neurodevelopmental disorders and certain birth defects, which exhibit complex genetic patterns, are becoming tractable for gene discovery efforts. Pharmacogenomics—the study of how genes control the efficacy and side effects of particular drugs—will drive tailored therapy for common pediatric illnesses such as infections requiring antibiotics and highly specialized care such as chemotherapy for childhood leukemias. The interface between a child’s genetic make up and his/her environment, important for increasingly prevalent conditions such as asthma and obesity, can be explored robustly.

Members of our team are actively advancing both research and treatment in pediatric health sciences across our many leading-edge laboratories and research groups.

Bieker Laboratory

James J. Bieker, PhD, and members of the Bieker Lab are working to identify a novel, erythroid-specific gene, EKLF,  which may play a pivotal role in at least one hemoglobin disorder.

Berin Laboratory

M. Cecilia Berin, PhD, and her laboratory are investigating the immune basis of food allergy to understand allergen properties, reactive mechanisms, individual risk factors, and how the medical community might learn to manipulate human immune responses in order to eradicate this growing health concern.

Bogunovic Laboratory

Under the direction of Dusan Bogunovic, PhD, the Bogunovic Laboratory focuses on studying the human immune system using immunogenomic, molecular biology, cellular biology, immunology, and clinical tools. We aim to improve understanding of the human immune system by studying individuals with severe clinical presentations of infections usually causing mild or no clinical disease.

Breen Lab

The laboratory of Michael S. Breen, PhD, aims to identify functional and targetable mechanisms underlying disorders affecting early childhood development, particularly autism spectrum disorder and related neurodevelopmental and neuropsychiatric disorders.

Brown Laboratory

Brian D. Brown, PhD, and his team at the Brown Laboratory are working with microRNA biotechnology, conducting immunology gene therapy to regulate autoimmune disease at the molecular level.

Bunyavanich Laboratory

The Bunyavanich Laboratory team of researchers is conducting epidemiologic studies of asthma and allergic diseases in well-characterized cohorts and investigating genome-wide associations between asthma, allergic rhinitis, and atopic dermatitis. We explore gene by environment, genomic data, microbiomics, and epigenomics related to asthma and allergies, under the direction of Primary Investigator Supinda Bunyavanich, MD, MPH.

Buxbaum Laboratory

Through cell and molecular biology, genetics, genomics, and the use of animal models, the Buxbaum Laboratory of Molecular Neuropsychiatry studies human psychiatric and neurological diseases under the direction of Joseph D. Buxbaum, PhD.

Cagan Laboratory

Ross L. Cagan, PhD, spearheads research in his Cagan Laboratory, seeking to achieve significant long-term advances in cancer and diabetes patient survival through genetic and drug-screening approaches using the fruit fly Drosophila.

Chu Laboratory

The laboratory of Jaime Chu, MD, is focused on using zebrafish to study sugar metabolism, p53, and cell proliferation in early development and cancer.

Cunningham-Rundles Laboratory

The laboratory of Charlotte Cunningham-Rundles, MD, PhD, is investigating B, T cell and dendritic cell immunity in primary immunodeficiency diseases.

De Rubeis Laboratory

The laboratory of Silvia De Rubeis, PhD, studies the developmental defects resulting from disruptive mutations in novel high-risk genes identified from our ongoing large-scale genomic studies in autism (ASD) and intellectual disability (ID).

Dubois Laboratory

Nicole Dubois, PhD, and members of the Dubois Lab are exploring both the development and the disease process related to the human heart.

Elliot and Roslyn Jaffe Food Allergy Institute

Under the leadership of the Director, Hugh A. Sampson, MD, The Elliot and Roslyn Jaffe Food Allergy Institute, performs clinical studies, providing medical expertise, educational guidance, nutritional counseling, and emotional support for those with food allergies.

García-Ocaña Laboratory

The laboratory of Adolfo García-Ocaña, PhD, focuses on developing innovative and effective therapies for pancreatic beta cell preservation, immune tolerance and pancreatic beta cell regeneration for the treatment of diabetes.

Gelb Laboratory

The laboratory of Bruce D. Gelb, MD, has developed an extensive program in genomics focusing on traits associated with heart malformations. The Gelb lab is studying Noonan and related syndromes, which arise from defects in RAS/MAPK signal transduction.

Harony-Nicolas Laboratory

The laboratory of Hala Harony-Nicolas, PhD, is focused on understating the mechanisms underlying social behavior deficits in autism spectrum disorder (ASD) and the implication of the hypothalamic oxytocin system in ASD and other neurodevelopmental disorders.

Huckins Laboratory

The laboratory of Laura Huckins, PhD, focuses on understudied psychiatric disorders. In particular, we are interested in disorders affecting women, children, and vulnerable populations.

Krauss Laboratory

Robert S. Krauss, PhD, and his team study pattern formation and cell differentiation during development and tissue regeneration in the Krauss Lab.

Loos Laboratory

Ruth Loos, PhD, leads the Loos Lab in the study of genes that increase the risk of obesity and related traits that may influence one’s genetic susceptibility.

Morishita Laboratory

Hirofumi Morishita, MD, PhD, leads the Morshita Lab in studies of perceptual and cognitive development.

Mount Sinai Child Behavioral Health and Science Center

Directed by Alexander Kolevzon, MD, the Mount Sinai Child Behavioral Health and Science Center offers a wide array of outstanding clinical services available to meet the full range of mental health needs for children and adolescents.

Obsessive-Compulsive and Related Disorders Program

Directed by Dorothy E. Grice, MD, the Obsessive-Compulsive and Related Disorders Program, provides clinical assessments for individualized and developmentally-appropriate evaluation and treatment of OCD and related conditions.

Pinto Laboratory

Dalila C. Pinto, PhD, leads the Pinto Lab in exploring foundations and treatments of autism spectrum disorders, intellectual disability, and epilepsy.

Rendl Laboratory

Michael Rendl, MD and his lab utilizes genetic mouse models to uncover how specialized Dermal Papilla cells act as instructive niche cells for hair follicle stem cells.

Paisan-Ruiz Laboratory

Coro Paisan-Ruiz, PhD, leads the Paisan-Ruiz Lab, elucidating the molecular basis underlying and contributing to movement disorders such as Parkinson’s disease, Parkinsonian-like syndromes, and essential tremor.

Pediatrics Nephrology & Hypertension Research

Directed by Jeffrey M Saland, MD, the Pediatrics Nephrology & Hypertension Research group conducts basic science, patient-oriented, and translational research linking nephrology and hypertension in children.

Scott Laboratory

The laboratory of Donald K. Scott, PhD, studies metabolic regulation of gene expression to derive therapies for diabetes.

Stroustrup Laboratory

The clinical research group of Annemarie Stroustrup, MD, MPH, seeks to improve the care of newborns admitted to the neonatal intensive care unit (NICU). Using cutting edge environmental health assessment, clinical trials, and perinatal epidemiological techniques, we evaluate specific care practices in the NICU with the aim of improving long-term health outcomes for children hospitalized in the NICU as newborns.

Webb Laboratory

The laboratory of Bryn D. Webb, MD, is dedicated to genetic studies of congenital anomalies and mitochondrial disorders.