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Population genomics in peripartum cardiomyopathy

US · IL NIH grant awarded #nih-1R01HL174912-01A1

Summary

This project aims to expand genomic investigation into Peripartum cardiomyopathy (PPCM) by integrating genetic and phenotypic data from existing registries and new cohorts to understand the combined effect of rare and common genetic variants, with a specific focus on African ancestry-specific risks.

What they want

The work involves expanding the national PPCM-Registry, creating a larger consolidated genetic dataset by integrating genetic and phenotypic data across biobanks and newly recruited cohorts, generating new genetic data where needed, and standardizing phenotypic data. It also includes evaluating monogenic and polygenic risk factors for left ventricular dysfunction in PPCM-Registry participants and characterizing African ancestry-specific risk for PPCM, specifically focusing on the contribution of the CD36 loss-of-function variant to incidence and disparities.
Deliverables
  • A larger, consolidated genetic dataset for PPCM
  • Standardized phenotypic data across PPCM cohorts
  • Evaluation of monogenic and polygenic risk factors for left ventricular dysfunction in PPCM
  • Characterization of African ancestry-specific risk for PPCM, including the CD36 loss-of-function variant's impact
Technical requirements
  • Genomic investigation techniques
  • Data integration and standardization across biobanks and recruited cohorts
  • Analysis of monogenic and polygenic risk scores (PRS)
  • Expertise in specific genetic variants (e.g., TTN truncating mutations, CD36 loss-of-function mutation)
  • Leveraging the national PPCM-Registry (~470 participants, 40% African ancestry)

Market context

inferred from NAICS
Professional, Scientific & Technical Services
NAICS 541714
US market size
$2.0T
Typical award
$25K – $50M
Typical buyers
All federal civilianDoDStates
Commonly required
8(a)WOSBSDVOSBPE/PMP

Sector-level estimate — full code lookup not yet in catalog.

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