The Charles Bronfman Institute for Personalized Medicine

The BioMe Phenomics Center

The BioMe Phenomics Center at the Icahn School of Medicine at Mount Sinai (BPC) aims to bridge the gap between genetics and medical traits. To achieve this, we combine genetic information obtained from the BioMe Biobank with rigorous screening and testing for medical disorders. 

Services 

The deep phenotyping core of the Mount Sinai BPC serves as a catalyst to empower translational science, generate resources for internal and external investigators and engender profitable interactions with industry partners.

We perform medical tests that aid in the diagnosis or detection of diseases and measure the progress of the disease. Our services range from blood testing like complete blood count, lipid profile to urine testing, cardiac testing, anthropometric testing and eye testing.

Mission

Our mission is to develop a center for recontact of BioMe participants for deeper phenotyping and biospecimen storage. BPC will make available to the Mount Sinai faculty, outside academic institutions, and industry partners the list of genes with penetrant homozygous LoF mutations that can be leveraged for recontacting and phenotyping studies.

"The BioMe Phenomics Center is a revolutionary initiative towards empowering translational science. Our radical project is leading the way in providing us with an unprecedented opportunity to understand the effect of genetic perturbations on phenotypic traits, and discovering useful safety information during the earliest stages for novel therapeutics. " – Judy H. Cho, MD; Girish Nadkarni, MD; Ron Do, PhD; Co-Directors BioMe Phenomics Center

Our extensive testing and diverse patient population provides for useful information that has broad applicability.

The purpose of the BPC is to provide phenotype information for participants of the BioMe Biobank. The BioMe Biobank is an electronic medical record-linked biobank of over 45,000 participants in the New York City Area. Due to the ideal location of Mount Sinai Hospital, the participants are diverse and multi-ethnic. Through our extensive phenotyping protocol, we hope to facilitate discovery of genotype-phenotype associations which will ultimately advance personalized medicine.

Our phenotyping protocol is extensive and includes the following and more:

  • Cardiovascular testing
  • Blood testing for lipid disorders, diabetes, and banking of blood for future use
  • Body imaging
  • Metabolomics

We have aided researchers in patient recruitment and drug development. For more information on how BPC can be useful to you please fill out our form or contact us directly.

We are happy to work with collaborators both internal and external to advance their research.

The purpose of the BPC is to provide phenotype information for participants of the BioMe Biobank. The BioMe Biobank is an electronic medical record-linked biobank of over 40,000 participants in the New York City Area. Through our extensive phenotyping protocol, we are dedicated to improving the understanding of genotype-phenotype associations.

Our phenotyping protocol includes the following and more:

  • Cardiovascular testing
  • Blood testing for lipid disorders, diabetes, and banking of blood for future use
  • Body imaging
  • Metabolomics

The BPC will work with investigators to explore phenotypes associated with a myriad of genetic alleles. The BPC hopes to help collaborators bring their work from the bench back to the patient. The results will be useful for manuscript generation and can serve as preliminary data for grant applications.

Current and Past Research Projects:

1. Association of Coronary Artery Disease Polygenic Risk Score and Calcium Scores.
We are comparing the calcium scores obtained from cardiac CT scans of participants with high and low genetic risk for coronary artery disease.

2. Phenotyping of sub-clinical Heart Failure
Identification of sub-clinical heart failure using tests such as 99c-technetium pyrophosphate scans on genetically high-risk participants.

3. Mechanisms of Kidney Failure
Performing phenotypic testing and generating iPSCs on genetically susceptible patients for kidney failure.

4. Screening of High Genetic Risk Participants for Glaucoma
We are performing extensive vision testing and glaucoma screening in patients with high genetic risks of glaucoma to aid in the early identification of this disease.

For more information on how BPC can advance your research please fill out our form or contact us directly.

Your participation will not only further genetic research, but provide you with personalized information about your health status.

The purpose of the BPC is to determine if certain genes place people at increased or decreased risk of medical diseases. In order to do this, participants of BPC will undergo vigorous screening for medical disorders. Participants will be provided with a summary of their test results. Currently, the BPC is only recruiting patients from the BioMe Biobank at the Icahn School of Medicine at Mount Sinai.

For more information on BioMe please visit BioMe Biobank or email.

Faculty

Judy Cho, MD
Co-Director BioMe Phenomics Center
Director, Institute for Personalized Medicine
Senior Associate Dean for Precision Medicine
Professor, Genetics and Genomic Sciences
Professor, Department of Medicine, Division of Gastroenterology

Ron Do, PhD
Co-Director BioMe Phenomics Center
Assistant Professor in Genetics and Genomic Sciences
Member, The Center for Statistical Genetics
Member, The Icahn Genomics Institute
Member, The Zena and Michael A. Weiner Cardiovascular Institute

Girish Nadkarni, MD, MPH, CPH
Co-Director BioMe Phenomics Center
Assistant Professor, Department of Medicine, Division of Nephrology
Clinical Director of the Institute for Personalized Medicine

Lili Chan, MD, MS
Assistant Professor, Department of Medicine, Division of Nephrology
Clinical Director of BioMe Phenomics Center

Administration 

Aparna Saha, MD, MPH
Project Manager, Institute for Personalized Medicine

Huei Hsun Wen, MD, MSCR
Clinical Research Coordinator, Institute for Personalized Medicine

Research Personnel 

Kumardeep Chaudhary, PhD
Postdoctoral Fellow, Institute for Personalized Medicine
Postdoctoral Fellow, Genetics and Genomic Sciences

Tielman Van Vleck, PhD
Director of Data Science, Institute for Personalized Medicine

Amanda Dobbyn, PhD
Postdoctoral Fellow, Institute for Personalized Medicine
Postdoctoral Fellow, Genetics and Genomic Sciences

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