# Human Genetics and Clinical Research Core

> **NIH NIH P30** · YALE UNIVERSITY · 2020 · $347,552

## Abstract

Core C Project Summary/Abstract 
Recent advancements in genetic and genomic approaches have been highly productive in identifying new 
biology underlying human health and disease. The genomic technology development support from The 
O'Brien Center, over the last 5 years, has enabled the implementation of cutting-edge technologies and 
achieve cost reductions of exome and other sequence analyses. Similarly, success in biomarker discovery 
methodology and multiplex assay development have allowed translational of these signals in clinical settings. 
Success in disease gene discovery and translational research requires diverse skill sets and effective 
collaborations among clinicians, basic scientists, and biostatisticians. Necessary tools include expertise in 
clinical medicine, knowledge of the regulatory environment to permit development of appropriate IRB protocols, 
expertise in study design to ensure that studies are adequately statistically powered, technological expertise to 
ensure that lab-based approaches remain at the cutting edge of the field, and first-rate 
bioinformatical/biostatistical analysis of results to ensure that findings are valid and robust. Yale has developed 
expertise in each of these areas and as a consequence, Yale investigators have been at the forefront of this 
endeavor with leaders in gene discovery for renal and Mendelian diseases and complex traits and translational 
research. In the last 5 years, projects fostered by 51 Yale and non-Yale investigators have led to the 
publication of more than 80 articles, many of them in high-profile journals. These publications report on the 
discovery of new disease genes for a wide array of kidney diseases, with many more discovery projects 
underway with leading investigators from the NIDDK community. This core will continue to provide key 
infrastructure support for all steps along the path to discovery, including development of HIC protocols, patient 
recruitment, biomarker discovery and validation, and analysis of next generation DNA sequencing and other 
large data sets. This core will provide effective training for students, fellows and faculty, and will help engage 
new investigators in translational research.

## Key facts

- **NIH application ID:** 9987626
- **Project number:** 5P30DK079310-13
- **Recipient organization:** YALE UNIVERSITY
- **Principal Investigator:** Chirag R Parikh
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $347,552
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9987626

## Citation

> US National Institutes of Health, RePORTER application 9987626, Human Genetics and Clinical Research Core (5P30DK079310-13). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9987626. Licensed CC0.

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