# Gene Mutation and Rescue in Human Diaphragmatic Hernia

> **NIH NIH P01** · MASSACHUSETTS GENERAL HOSPITAL · 2022 · $374,455

## Abstract

ADMINISTRATIVE SUPPLEMENT TO 2P01-HD068250
ABSTRACT:
Congenital diaphragmatic hernia (CDH) is a common birth defect, which requires considerable infrastructure for
creating and maintaining multi-institutional single IRBs, recruiting, clinically characterizing, obtaining, processing,
and maintaining biospecimens on patients, with research centered at the Massachusetts General Hospital,
Boston Children’s, and Columbia University, New York from 16 different clinical centers. The carefully honed
infrastructure for patients, specimens, and data is the foundation for the success of this Program Project, “Gene
Mutation and Rescue in Human Diaphragmatic Hernia”, to study genetic contributions to the structural birth
defect, CDH. We have established one of the largest and most carefully characterized CDH cohorts in the world,
which this Administrative Supplement aims to preserve. Collectively, we have already enrolled 2045 patients with
CDH and 3662 unaffected family members, and ongoing recruitment has been expected to enroll 100 – 150
patients and families per year over the course of the Administrative Supplement, which will support the follow on
recruitment and consent of participants, the continued collection and organization of extensive phenotypic data
including retrospective medical record review and longitudinal clinical followup, follow on collection and
processing of specimens with preservation of existing biospecimens, and data management by high quality
bioinformatic analyses and annotation of genomic and phenotyping data. The data has been sequenced by the
Broad Institute of Harvard and MIT but not yet released by the Data Release Resource at the University of
Pennsylvania. This data must then be analyzed, then shared with dbGAP and Gabriella Miller Kid’s First Program
portals to preserve data and specimens for this precious resource. The detailed phenotyping of human subjects
will be instrumental in the interpretation of data derived by us and other investigators of the broad research
community. Protecting the resource for posterity is uppermost in our Aims since we have invested considerable
expertise and NICHD has invested millions of dollars into this Project under the auspices of the Structural Birth
Defects Program of the NICHD.

## Key facts

- **NIH application ID:** 10596873
- **Project number:** 3P01HD068250-10S1
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Wendy K Chung
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $374,455
- **Award type:** 3
- **Project period:** 2011-08-29 → 2024-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10596873

## Citation

> US National Institutes of Health, RePORTER application 10596873, Gene Mutation and Rescue in Human Diaphragmatic Hernia (3P01HD068250-10S1). Retrieved via AI Analytics 2026-06-16 from https://api.ai-analytics.org/grant/nih/10596873. Licensed CC0.

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