RCMI CCRHD Pilot Project Program 2023–2025 “Molecular Genetic Testing for Diagnosis of Rare Diseases in Puerto Ricans”

Research Areas

  • Genotype–Phenotype Correlations in Neurogenetic Disorders
  • Population Genomics and Admixture in Puerto Ricans
  • Biorepository and Variant Catalog for Rare Diseases
  • ELSI and Dissemination of Results in Genomic Research
  • Whole Genome Sequencing to Overcome the Diagnostic Odyssey

Scientific Achievements

  • Advanced a genetics-first approach using whole genome and mitochondrial sequencing to characterize complex neurogenetic traits in Puerto Rican children.
  • Expanded a population-based biorepository and initiated the development of a clinical variant catalog for rare and mitochondrial diseases in Puerto Rico.
  • Enhanced genotype–phenotype correlation analyses by integrating heteroplasmy data and investigating novel variants of uncertain significance.
  • Established infrastructure for patient and family engagement, including registry development and coordination of genetic counseling services.

Funding

RCMI Funding:

  • NIH/NIMHD U54MD007600: Pilot Project “Molecular Genetic Testing for Diagnosis of Rare Diseases in Puerto Ricans”

Other funding obtained with RCMI support:

  • The TBCK Foundation Pilot Grant Program 2025 Recipient
  • NIMHD S21MD001830 Hispanic for Research Capability (HiREC) Mini Grant Recipient
  • Genomics Answers for Kids Program (GA4K), Children’s Mercy Research Institute, Kansas City

Scientific Advance

Psychiatric genetics in the diverse landscape of Latin American populations
Published in Nature Genetics, Volume 57, 2025, PMCID: PMC12133068.
This is a review article looking at psychiatric genetics in Latin America and the Caribbean. The authors point out that most genetic studies of psychiatric disorders have focused on populations of mainly European ancestry, which can limit how well findings apply to diverse groups. They examine how the genetic diversity, different environments, and healthcare disparities in Latin America affect psychiatric research, discuss what’s been done so far, highlight challenges (such as underrepresentation, data gaps, and limited resources), and suggest ways to improve equity and science in this field.
R01MH125938/U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH), R01 MH119084/MH/NIMH NIH HHS/United States, K01 MH121580/MH/NIMH NIH HHS/United States, 5R01DA054869/U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA), R01 MH134039/MH/NIMH NIH HHS/United States
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