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Hi! My name is Adam Naj.
I'm a genetic epidemiologist at
the University of Pennsylvania Perelman School of Medicine,
and I'd like to present today on the genomic studies of Alzheimer's disease,
both taking you through a history of work that has already
been done to identify genetic risk factors from Alzheimer's disease,
bring you up to date on current progress,
and give you some insights on the future directions that
genomic studies of Alzheimer's disease will be taking.
0:23
To give you a brief overview of my presentation today,
I'd like to go into some background on Alzheimer's disease,
including a discussion of the pathology of the disease and
some description of the epidemiology of the disease
and underlying environmental risk factors of the disease.
For the main focus of the talk on the genetics of Alzheimer's,
I'd like to give you a description and some background on
the genetics underlying the rare early onset form of Alzheimer's disease.
The main focus of the genetics of Alzheimer's will
be on the genes underlying late onset Alzheimer's disease,
and those include brief departure and focus on the APOE gene,
the strongest known genetic risk factor for late onset Alzheimer's,
as well as an overview of genome-wide association studies
that have been used to identify some of
the common genomic variants contributing to the late onset Alzheimer's risk.
In addition, I'll be following up with information on new and ongoing studies of
a rare genomic variant contributing to Alzheimer's disease and this
includes a survey of some exome array studies that have been done,
as well as a survey of whole genome sequencing
and whole exome sequencing studies that are currently ongoing;
And I'd like to also go into a discussion of some of
the work that has been done to identify genes with
multiple variants contributing to disease including
pathways that have multiple genes known to
contribute to Alzheimer's risk and what those pathways might
provide us in terms of insights into disease pathology.
We'll also briefly at the end,
take an opportunity to go over
some future directions of genomic studies of Alzheimer's disease.
