# Recruiting and Phenotyping Core

> **NIH NIH P01** · MASSACHUSETTS GENERAL HOSPITAL · 2020 · $263,788

## Abstract

CORE A: RECRUITMENT AND PHENOTYPING CORE
ABSTRACT:
Although congenital diaphragmatic hernia (CDH) is a common birth defect, it is still relatively rare and requires
infrastructure for recruiting, clinically characterizing, and obtaining biospecimens on patients, and is the
foundation for the success of this Program Project. By merging two well-established CDH research programs
(Massachusetts General Hospital/Boston Children’s Hospital and Columbia/DHREAMS) we have established
one of the largest and most carefully characterized CDH cohorts in the world. Collectively, these two studies
have enrolled 1500 patients with CDH and 2683 unaffected family members, and ongoing recruitment is
expected to enroll 900 additional patients over the course of this 5 year grant. This Core supports the
recruitment and consent of participants, collection of extensive phenotypic data including retrospective medical
record review and longitudinal clinical follow-up, collection and processing of biospecimens, and management
of data and IRB protocols. The specimens collected will be used extensively for all genomic studies proposed
in Project I. Furthermore, the detailed phenotyping of human subjects will be instrumental in the interpretation
of data derived from mouse models in Projects II and III, and patient-specific cell lines will be used for
functional assays in Project III.

## Key facts

- **NIH application ID:** 9929448
- **Project number:** 5P01HD068250-09
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Frances Arianwen High
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $263,788
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9929448

## Citation

> US National Institutes of Health, RePORTER application 9929448, Recruiting and Phenotyping Core (5P01HD068250-09). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9929448. Licensed CC0.

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