Tissue Procurement Center (TPC) Supporting the Somatic Mosaicism across Human Tissues (SMaHT) Network - Program Director/Principal Investigator (Bell, Thomas, J.):
Project Summary:
The Somatic Mosaicism across Human Tissues (SMaHT) network project will establish the first comprehensive
public resource correlating genetic variation due to somatic mosaicism in human tissues from all development
layers in the human body. The SMaHT Network will have multiple centers to support the advancement of three
primary initiatives: 1) somatic variant discovery, 2) data analysis and network organization, and 3) technology
and tool development. The data from the SMaHT network project will provide an unparalleled research resource
for investigators to gain new insights on genetic variation due to somatic mosaicism processes in healthy human
tissues. In addition to capitalizing on new emerging methodologies to study somatic mosaicism in human tissues,
the SMaHT program includes an Ethical, Legal, Social Implications (ELSI) study to further our understanding of
the ELSI factors in human tissue donation for somatic mosaicism research.
To support the advancement of the SMaHT network project, this proposal will establish a Tissue Procurement
Center (TPC) that will provide the SMaHT network with multiple, high quality human tissue samples from the
same individual across all three developmental layers for their experimental analysis. To meet the challenges
for SMaHT network, our proposal is utilizing a multi-institutional effort with extensive expertise in human tissue
collection, research, pathology, imaging, biobanking, and ELSI study analysis. This span of expertise is essential
for the TPC to successfully deliver well-annotated, suitable tissue samples to support the generation of reliable
and reproducible results and data interpretations from the SMaHT network experimental procedures. In addition,
the TPC will lead the SMaHT network ELSI study to shed light on the ELSI-specific factors in human tissue
donation for somatic mosaicism research. To enable a more extensive analysis of these factors, the SMaHT
network ELSI study will include evaluations on Tissue Requesters (TRs) and Family Decision Makers (FDMs).
Collectively, our TPC team is committed to establishing an unequaled TPC for the SMaHT network program to
support the advancement of somatic mosaicism research, the associated ELSI factors, and ultimately the
development of new clinical approaches to treat disorders driven by genetic variations from somatic mosaicism
in human tissues.
Relevance:
The Somatic Mosaicism across Human Tissues (SMaHT) network project will provide the first comprehensive
public resource of analyzing genetic variation due to somatic mosaicism in human tissues from all three
developmental layers. The SMaHT network program will create a new, state-of-the-art research resource to
support new discoveries in the biology and disease mechanisms that are propelled by somatic genomic
alterations in human tissues and facilitate the development of new clinical approaches for disorders derived from
somatic genetic variations.
OMB No. 0925-0001/0002 (Rev. 03/2020 Approved Through 02/28/2023) Page Continuation Format Page
