# Human Participants and Sequencing

> **NIH NIH P01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2024 · $467,684

## Abstract

CORE C, Human Participants and Sequencing: ABSTRACT
The past decade has seen a rapid increase in diagnosis of genetic primary immunodeficiencies (PIDs)
involving T lymphocyte dysfunction, in part due to the advent of population based newborn screening for
severe combined immunodeficiency (SCID). This Program Project will combine new approaches that utilize
deep sequencing, high-throughput cellular screening, genomics, gene editing, and functional testing in cellular
systems and animal models to transform our understanding of human lymphocyte differentiation and function,
and to create new, personalized treatments for affected individuals. The Projects and Cores of this Program
will address the major challenges that have stood in the way of realizing this transformation by integrating
clinical data from T-cell insufficient patients with basic investigations drawing on the expertise of leaders in
immunology, bioinformatics, target validation, and genome editing. The Human Participants and Sequencing
Core (Core C) serves the essential roles for the entire Program of (i) enrolling the human subjects, and (ii)
conducting the deep sequencing. Subjects to be studied will be patients with T cell insufficiency or severe
combined immunodeficiency (SCID) whose genetic diagnosis is unproven despite having had known genes
responsible for these conditions investigated. Parents will be enrolled also. Core C will be the entry point and
tracking hub for: informed consent, receiving samples, and collecting and recording phenotypic data (Aim 1);
preparing samples for studies to be carried out by all the Projects and Cores (Aim 2); and obtaining special
samples, including CD34+ primary cells from SCID patients for Projects 2 and 3 (Aim 3). Furthermore, Core C
will obtain genomic DNA and cell-subset RNA sequencing for all Projects (Aim 2), sharing it, as permitted, with
national databases to contribute to publicly available de-identified information on rare diseases (Aim 4).

## Key facts

- **NIH application ID:** 10929324
- **Project number:** 5P01AI138962-05
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Jennifer M. Puck
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $467,684
- **Award type:** 5
- **Project period:** 2020-09-08 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10929324

## Citation

> US National Institutes of Health, RePORTER application 10929324, Human Participants and Sequencing (5P01AI138962-05). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10929324. Licensed CC0.

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