The Precision Clinical Research Unit at the Icahn School of Medicine at Mount Sinai (PCRU) aims to bridge the gap between genetics and medical traits. To achieve this, we combine genetic information obtained from the BioMe Biobank and Mount Sinai Million Health Discoveries Program with rigorous screening and testing for medical disorders.
Services
The deep phenotyping core of the Mount Sinai PCRU serves as a catalyst to empower translational science and generate resources for internal and external investigators. We perform medical tests that aid in the diagnosis or detection of diseases and measure their progression.
Our phenotyping protocol includes the following:
- Abdominal CT
- Anthropometric Assessments
- Blood Sample Collection and Testing
- Cardiac Testing
- Carotid Ultrasound
- Hearing Tests
- Neurocognitive Testing
- Skin Biopsies
- Smell Tests
- Urine Testing
- Vision Testing
- X-ray Fluoroscopy (bone lead)
Our services also include the recall of BioMe Biobank and Mount Sinai Million participants for involvement in future research studies.
If you are interested in deep phenotyping resources and or the recall of BioMe and Mount Sinai Million participants, please submit a PCRU intake form here.
Partnership with BioMe Biobank and Mount Sinai Million Health Discoveries
The PCRU is partnered with the BioMe BioBank and the Mount Sinai Million Health Discoveries program, allowing unprecedented access to electronic medical record-linked genetic data. The BioMe Biobank contains data for over 60,000 participants in the New York City Area. The Mount Sinai Million Health Discoveries Program is projected to enroll over one million participants.
Due to the ideal location of the Mount Sinai Health System, participants are diverse and provide insights that span across ethnicities, socioeconomic statuses and cultural backgrounds which can expand our understanding of genetics to include a much wider population than previously studied.
Enrollment for BioMe concluded in 2022. If you are interested in participating in the Mount Sinai Million Health Discoveries program, you can learn more here.
We are happy to work with collaborators both internal and external to advance their research. The PCRU hopes to help collaborators bring their work from the bench back to the patient.
Results will be useful for manuscript generation and can serve as preliminary data for grant applications.
If you are interested in deep phenotyping resources and or the recall of BioMe and Mount Sinai Million participants, please submit a PCRU intake form here.
If you are interested in requesting data or specimens from the BioMe Biobank or Mount Sinai Million Health Discoveries program, please submit the CBIPM Data and Specimen Inquiry Form here.
- 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.
- 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.
- Mechanisms of Kidney Failure
Performing phenotypic testing and generating iPSCs on genetically susceptible patients for kidney failure.
- 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 PCRU 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 PCRU is to determine if certain genes place people at increased or decreased risk of medical diseases. In order to do this, participants of the PCRU will undergo screening for medical disorders. Participants will be provided with a summary of their test results. Currently, the PCRU is only recruiting patients from the BioMe Biobank and Mount Sinai Million Health Discoveries program at the Icahn School of Medicine at Mount Sinai.
For more information on BioMe please visit BioMe Biobank. For more information about Mount Sinai Million Health Discoveries, visit Mount Sinai Million Health Discoveries.
Faculty
Lili Chan, MD, MS
Associate Professor, Department of Medicine, Division of Nephrology
Clinical Director of Precision Clinical Research Unit
Ron Do, PhD
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
Assistant Professor, Department of Medicine, Division of Nephrology
Clinical Director of the Institute of for Personalized Medicine
Administration
Alexander Kim, MS
Research Manager, Institute for Personalized Medicine
Research Personnel
Cristina Liriano Cepin, MS
Clinical Research Coordinator, Institute for Personalized Medicine
Patricia-Mariela Rivero
Clinical Research Coordinator, Institute for Personalized Medicine
Tielman Van Vleck, PhD
Director of Data Science, Institute for Personalized Medicine