dkNET Webinar "Exploring Genomic Frontiers: Tools and Opportunities from Alzheimer’s Research"

*Watch recorded webinar here: https://youtu.be/oyo5BTgh19w

Join dkNET Webinar on Friday, February 14, 2025, 11 am - 12 pm PT

Presenter: Li-San Wang, PhD, Peter C. Nowell, M.D. Professor and Vice Chair for Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine 

Abstract

In this talk, we explore the genomic frontiers of Alzheimer's research via the revolutionary Alzheimer's Disease Sequencing Project (ADSP; https://adsp.niagads.org). ADSP integrates together various components that collectively unravel the intricate genetic landscape of Alzheimer's disease with the ultimate goal of advancing precision medicine for the millions affected globally by this devastating disease. With an eventual goal of sequencing and analyzing up to 150,000 complete genomes and associated clinical and functional data, ADSP has amassed an unprecedented wealth of genomic data from diverse populations, providing a comprehensive and holistic understanding of the genetic underpinnings of Alzheimer's disease.

This presentation highlights key components of the ADSP: (1) NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS; https://www.niagads.org): As a national data repository, NIAGADS supports Alzheimer’s Disease and Related Dementias (ADRD) research with high-quality data collections, genome-wide association study (GWAS) summary statistics, and richly annotated genomic knowledge bases. (2) Diversity Initiative: The ADSP places a paramount emphasis on diversity, ensuring the inclusion of a wide range of populations in its genomic dataset. (3) Phenotype Harmonization: Harmonizing phenotypic data across diverse cohorts is a critical aspect of the ADSP, facilitating meaningful comparisons and analyses. (4) Functional Genomics: Moving beyond genetic variations, the ADSP incorporates functional genomics to discern the biological mechanisms at play. (5) AI/ML Opportunities: the focus of this session, we will start by illuminating the wide range of opportunities the ADSP offers to AI/ML researchers.

By showcasing the tools and frameworks developed through the ADSP, this talk aims to inspire collaborations that extend beyond Alzheimer’s research, opening pathways for integrating genomic resources and expertise to advance research in diabetes, kidney disease, and other complex disorders.

The Top 5 Key Questions that Alzheimer's Disease Sequencing Project (ADSP) Resources Can Answer:

1. Where can researchers find key genes or pathways identified through the ADSP and how does the ADSP incorporate functional genomics with genetics to identify potential therapeutic targets?

2. What are the most promising AI/ML approaches currently being applied to ADSP data, and how might they be adapted to study diabetes or kidney diseases?

3. How does ADSP data support the development of predictive models for disease risk or progression?

4. Can tools developed for ADSP’s phenotype harmonization be applied to harmonize data for complex traits in diabetes or kidney disease?

5. How does the ADSP ensure diverse population representation in its datasets, and how can these efforts inform studies on genetic risks in underrepresented populations for diabetes or kidney disease?

Dial-in Information: https://uchealth.zoom.us/meeting/register/x-98M_efRPSx0yfUcCOZGA

Upcoming webinars schedule: https://dknet.org/about/webinar