Biomarkers

Area of Science:

• Genomics
• Neuroscience
• Population Health

Background:

• Pakistan has a large population with Alzheimer's disease and related dementias (ADRD).
• Consanguinity, common in Pakistan, may increase the risk of genetically transmitted diseases like ADRD.
• Consanguinity is underrepresented in global AD research.

Purpose of the Study:

• To conduct the first international research collaboration on consanguinity and AD.
• To implement genetic and phenotypic research for ADRD in Pakistan, aligning with international standards.
• To increase diversity in ADRD research by including a Pakistani cohort.

Main Methods:

• Collaboration between Aga Khan University Hospital and the Alzheimer's Disease Sequencing Project (ADSP).
• Training the ENIGMA-PAK team on standardized data collection (blood, phenotypic, neuroimaging).
• Collecting data from 120 ADRD patients and 80 controls in Sindh, Pakistan.

Main Results:

• Feasibility data from a unique Pakistani sample will be presented.
• This data aims to enhance understanding of consanguinity's role in ADRD.
• The study will increase diversity in ADRD research.

Conclusions:

• A Pakistani cohort diversifies genomic studies of ADRD.
• Combining neuroimaging and non-neuroimaging biomarkers aids AD progression studies.
• This collaboration enhances global understanding of AD prevalence and progression.