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Printable Handouts
Navigable Slide Index
- Introduction
- Neurogenetics
- Types of genetic studies
- Allele frequency vs. effect size
- Parkinson’s disease (PD)
- Mendelian Parkinson's disease
- Genes to patients
- PINK1: genetic discovery to protein expression
- Pink1 and mitochondrial abnormalities (1)
- Pink1 and mitochondrial abnormalities (2)
- In vivo interaction between PINK1 and Parkin
- Patients to mechanism
- Parkinsonian proteins and mitophagy
- Mitochondrial dysfunction
- Protein aggregation
- Ceramide metabolism and PD
- Lysosomal pathway and PD
- Complex trait genetics
- Linkage disequilibrium blocks
- Identifying common genetic factors
- Genetic risk factors & odds of finding variants
- First genome-wide association study for PD
- Parkinson’s disease molecular pathways
- Other studies performed
- Replicate meta-analysis
- Where are the major neurological diseases up to?
- Caveats to consider in GWAS (1)
- Caveats to consider in GWAS (2)
- The ENCODE study
- Trinucleotide repeats
- The polyglutamine disorders (1)
- The polyglutamine disorders (2)
- The polyglutamine disorders (3)
- The polyglutamine disorders (4)
- De novo mutations are paternally derived
- SCA3 and SCA7 (Instability in blood and sperm)
- Similarities between CAG repeats
- The non-coding region C9orf72
- The impact of next generation sequencing
- Future challenges (1)
- Future challenges (2)
Topics Covered
- Neurogenetics
- Allele frequency vs. effect size
- Parkinson’s disease (PD)
- PINK1: genetic discovery to protein expression
- Pink1 and mitochondrial abnormalities
- In vivo interaction between PINK1 and Parkin
- Parkinsonian proteins and mitophagy
- Mitochondrial dysfunction
- Protein aggregation
- Ceramide metabolism and PD
- Lysosomal pathway and PD
- Complex trait genetics
- Linkage disequilibrium blocks
- Identifying common genetic factors
- Genetic risk factors & odds of finding variants
- First genome-wide association study for PD
- Parkinson’s disease molecular pathways
- Replicate meta-analysis
- The major neurological diseases
- Caveats to consider in GWAS
- The ENCODE study
- Trinucleotide repeats and related disorders
- The impact of next generation sequencing
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Wood, N. (2014, July 1). Genetic basis of neurological disease [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 23, 2024, from https://doi.org/10.69645/YGWR2106.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Nicholas Wood has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:00
So I'm Nicholas Wood.
I'm Galton Professor of
Genetics here at UCL.
And I'm going to talk
about the genetic basis
of a neurological disease.
My background is a mix of
clinical work and academic work.
And my group are involved
in trying to understand,
as the title suggests, the basis of
a range of neurological diseases.
0:23
So to start this lecture, I just
want to put up a very basic slide
here, really describing the
basis of almost any trait.
Of course I want to concentrate
on the neurological ones.
But you can divide them
in a number of ways.
You can have classical
Mendelian inheritance,
non-Mendelian, and then
a slight after thought,
is the chromosomal rearrangements.
The chromosome rearrangements
often give rise
to other boutique and
specific syndromes.
And I'm not going to be talking
about those at all today.
However what has become
increasingly important
for a range of neurological
and neuropsychiatric conditions
is the fact that we have
various numbers of genes.
So copy number variation
is becoming more prominent.
But most of this talk is
concerned with the Mendelian
and non-Mendelian factors.
And I'm going to illustrate these
predominantly with Parkinson's
disease, which nicely is a
model for these two concepts.
1:19
And if one bears this
in mind, if one's
to solve the genetic
architecture of a given trait,
there are two basic
forms of analysis.
You can take linkage,
which really is
a classical way of
finding Mendelian traits.
These are high
penetrant traits which
can be mapped in
individual families.
And then you have association
studies, which are a very powerful
method for getting a hold
of lower impact variance.