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Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Epidemiology
- Clinical syndrome and diagnosis
- Neuropathology
- Alzheimer’s disease (AD) genetics
- Genetics of familial Alzheimer’s disease
- Genetics of familial AD: APP duplications
- Genetics of AD: phenotypic heterogeneity
- True pathogenicity of variants in known genes
- The amyloid cascade hypothesis
- Amyloid processing
- Genetics of sporadic Alzheimer’s disease
- Genetics of sporadic AD: APOE
- Whole genome genotyping: SNP chips
- Genetics of sporadic AD: GWAS (1)
- Genetics of sporadic AD: GWAS (2)
- Copy number variations: APP duplications
- AD as a recessive disease (1)
- AD as a recessive disease (2)
- Exome sequencing
- A protective mutation in APP
- The SORL1 mutation
- Phospholipase D3 gene
- Genetics of dementia in a Turkish cohort
- Exome sequencing in familial AD
- TREM2 gene mutations (1)
- TREM2 gene mutations (2)
- TREM2 in Alzheimer’s disease (1)
- TREM2 in Alzheimer’s disease (2)
- TREM2 in Alzheimer’s disease (3)
- Normal functioning CR1 and TREM2
- Loss of function of CR1 and TREM2
- Genetics landscape of Alzheimer’s disease
- Summary
Topics Covered
- Main features of Alzheimer's disease (AD) including: Epidemiology, Clinic/diagnosis, Neuropathology, Genetics, Familial vs. Sporadic forms, Molecular mechanisms
- Genome-wide association & Next-generation sequencing studies in AD
Links
Series:
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Therapeutic Areas:
Talk Citation
Guerreiro, R.J. (2014, July 1). Alzheimer’s disease: current status of genetics research [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/HKHB9569.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Rita J. Guerreiro has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Genetics & Epigenetics
Transcript
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0:00
My name is Rita Guerreiro
and I'm at the Institute
of Neurology in London.
And in this lecture, I'm going
to talk about Alzheimer's disease
with a particular focus
on the current status
of genetics research
in this disease.
I will refer to several
concepts, mainly genetic methods
and technologies without describing
them, because these have been
the subject of a previous
lecture in this series.
0:25
This talk is divided
in two main parts.
In the first part, I will
give a brief overview
of the central features
of Alzheimer's disease
and I will talk about the first
genetic findings in this disease.
In the second part, I will
introduce the leading results
from the application of recently
developed genetic technologies
to the study of dimentia,
with a focus on the use of XM
sequencing in Alzheimer's disease.
I will end this
lecture by summarizing
all the main topics
that were discussed.
0:56
Alzheimer's disease is a
neurodegenerative disease
and is the most common cause
of dimentia in the elderly,
accounting for 60% to
75% of these cases.
The frequency of Alzheimer's
disease doubles every five years,
increasing from affecting 1% of
individuals age 60 to 64 years
to 35% to 45% of those
over 85 years of age.
The 2012 Alzheimer's
Society dementia report
estimated the total financial
annual cost of dementia to the UK
to be over a 23 billion pounds,
with over 80,000 people living
with this condition in this country.
Worldwide, 25 million people
are estimated to have dimentia.
And by 2050, this figure is expected
to rise to 14 million cases.
And the costs associated
with this disease
will rise to extremely large numbers
as the world population ages.
Currently, there is no known
cure for Alzheimer's disease.