Research Capacity Core - Genomics Facility
Research Areas
- Rare human genetic disorders and variants in Puerto Rican Hispanics
- Functional studies of genetic variants of TWIST bHLH proteins found in Setleis, Barber Say, Sweeney Cox Syndrome patients.
- Genetic variants causing Hermansky Pudlak Syndrome and Oculocutaneous Albinism
- Functional studies of HPS1 and HPS4 proteins
- Regulation of Gene Expression
Scientific Achievements
- Contribute to understanding the population genetics of several rare diseases and pathological variants in Puerto Rico
- Identification of the Setleis Syndrome Gene TWIST2 in collaboration with Dr. Robert Desnick
- Characterization of the most common forms of albinism in Puerto Rico (Type 1 HPS, type 3 HPS, OCA1 and OCA2)
- Initial description of the pharmacogenetics and pharmacogenomics of Puerto Ricans (with Dr. Jorge Duconge), invertebrate hemoglobins and genomics (with Dr. Juan Lopez Garriga)
Funding
RCMI Funding:
- NIH/NIMHD U54MD007600
Other funding obtained with RCMI support:
- SC1GM139706, NIH/NIGMS, “Mechanisms of TWIST bHLH Transcription Factors Binding to Functional Target Regions”
- 5P20RR011126-13, NIH/NCRR, “IDENTIFICATION OF THE GENE(S) INVOLVED IN TYPE III FOCAL FACIAL DERMAL DYSPLASIA”
- S06GM008224, NIH/NIGMS, “Molecular Genetics of Hermansky Pudlak Syndrome”
Scientific Advance
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Published in Molecular Genetics & Genomic Medicine, Volume 12, 2024, PMCID: PMC11240142.
Published in Molecular Genetics & Genomic Medicine, Volume 12, 2024, PMCID: PMC11240142.
This case report describes two adult siblings from Puerto Rico who were clinically diagnosed with Hermansky-Pudlak syndrome (HPS) during childhood—which is a genetic condition that causes albinism plus bleeding tendencies due to absent dense bodies in platelets—but who did not have the common Puerto Rican mutations in the HPS1 or HPS3 genes. When tested with exome sequencing and validated with PCR/Sanger sequencing, the molecular work instead identified that both siblings are compound heterozygotes for four variants in the TYR (tyrosinase) gene: c.-301C>T, c.140G>A (p.G47D), c.575C>A (p.S192Y), and c.1205G>A (p.R402Q). Based on these findings, their correct diagnosis is oculocutaneous albinism type 1B (OCA1B), not HPS. The report emphasizes the importance of molecular genetic testing in rare conditions—especially in populations with high prevalence of certain founder mutations—in order to ensure accurate diagnosis, prognosis, and genetic counseling.
U54 MD007600/NIMHD NIH HHS/United States, U54 GM133807/NIGMS NIH HHS/United States R25 GM061838/NIGMS NIH HHS/United States, U54GM133807/NIH HHS/United States, R25GM061838/NIH HHS/United States, P20GM103475/NIH HHS/United States, P20 GM103475/NIGMS NIH HHS/United States
