• Genetic Epidemiology of Early Onset Alzheimer disease: Identification of Genetic Modifiers

We are studying a cohort of Puerto Rican families to identify genetic modifiers that may delay or accelerate the age at onset of Alzheimer disease or memory impairment.  For this purpose, we have recruited and evaluated carrier families living in Puerto Rico as well as in the Dominican Republic and in the US.  We then apply genomic methods (e.g., whole genome sequencing) to identify protective or risk modifiers.​​

*This project is funded by the BrightFocus Foundation and the National Institute on Aging, NIH.

• For more information: Alzheimer's disease, Alzheimer's caregiving, Residential Care facilities, Caring for a person with AD, After AD Diagnosis

 

​

• Multi-omics of Alzheimer's Disease in Adults with Down Syndrome

We are studying a cohort of adults with Down syndrome to identify genetic and environmental factors that may elevate or reduce the risk of Alzheimer disease or related-endophenotypes. To this end, we have been following a large cohort of adults longitudinally and have obtained their cognitive status and blood-based biomarkers. We are now extending this study in a multi-center study to understand the progression of dementia-related pathologies in adults with Down syndrome by examining multi-omic data on study participants, including genomics, proteomics, lipidomics, metabolomics, imaging, cognitive performance and Alzheimer disease status.

*This project is funded by the National Institute on Aging, NIH. More information can be found here.

• ABC-DS: Alzheimer's Biomarker Consortium - Down syndrome

• Identification Of Protective Factors For Cognitive Resilience In Adults With Down Syndrome: A Multi-Omic Study

​

​

• Genetics of Healthy Aging - Long Life Family Study

We are examining biomarkers as well as clinical outcomes in healthy long life families to understand genetic and non-genetic factors that contribute to healthy aging.  We have been performing a genome wide single nucleotide polymorphism (SNP) analysis and targeted sequencing analysis to identify factors that are uniquely associated with healthy aging.  For this purpose, we have been focusing on telomere repeat length as a marker of cellular aging to identify genetic factors that are associated with slower rate of aging.  We continue to examine additional biomarkers that may shed biological insight into the aging process, including amyloid beta peptides and metabolites.  

*This project is funded by the National Institute on Aging, NIH.​​

• Long Life Family Study

​

​

• Natural Experiment Projects: Genetic Studies of Biomarkers

We have designed natural experiments to better understand the role of gene and environment in common diseases. To this end, we examine groups of people who share the common genetic background, but live in disparate environments due to historical, economic, or political reasons.

 

Kazakhstan Project: We are currently studying a cohort of Kazakhs living in Kazakhstan to identify genetic variants that influence levels of metabolites, which may provide insight into the biology of cardio-metabolic dysfunctions. This study will be extended to include Kazakhs living in China and Mongolia who still maintain the nomadic lifestyle. In addition, we have studied ethnic Koreans living in Kazakhstan and China.

*This project has been funded by the Kazakh National Science Council and the National Institute on Aging, NIH.​

 

Marcaibo Aging Study, Venezuela: We are conducting a brain imaging study on an isolated American Indians living in Maracaibo, Venezuela.​

• Research on aging during the Venezuelan humanitarian crisis: the experience of the Maracaibo aging study