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Printable Handouts
Navigable Slide Index
- Introduction
- Seguin E. 1866, Weldon 1902 (quotes)
- John Langdon Down
- The biology of mental defect - 1949
- Documentation of Down syndrome (1)
- Documentation of Down syndrome (2)
- Documentation of Down syndrome (3)
- Documentation of Down syndrome (4)
- Documentation of Down syndrome (5)
- Dr. Down's personal patients with syndrome (table)
- Ascertainment bias
- Mutation and syndromes (variable expressivity of disease)
- Mutations as "difference makers"
- The "map making" stage (1)
- The "map making" stage (2)
- One gene, many functions
- Mutation in “disease genes” – without disease
- Sequencing genomes in the Netherlands
- "Genes causing autism": overly simplistic
- Rare variants in rare and common diseases
- Mutations modulated by genetic background
- Experiment in yeast
- Ancestry matters
- What we know (and don't know) about DNA
- Advanced modeling
- DNA as an encyclopaedia (1)
- DNA as an encyclopaedia (2)
- Worldwide human genetic variation “database”
- “Networking of science"
Topics Covered
- The biology of mental defect
- Documentation of Down syndrome
- Variable expressivity of disease
- Mutations as "difference makers"
- The "map making" stage
- Mutation without disease in “disease genes”
- Overly simplistic view of "genes causing autism"
- Rare variants in rare and common diseases
- Mutations modulated by genetic background
- Clinical validity through “Networking of science"
Talk Citation
Lyon, G. (2015, July 30). Human genetic variation and the genotype-phenotype problem 2 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 27, 2024, from https://doi.org/10.69645/KQLK4655.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Gholson Lyon has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Human genetic variation and the genotype-phenotype problem 2
Published on July 30, 2015
20 min
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:04
Parallel to Weldon, who is quoted
on the bottom of the slide,
stating that, The
accumulation of records,
in which results are massed
together in ill-defined categories
of variable and uncertain
extent, can only result in harm.
This is also very much
reflected in the writings
of this other individual,
Seguin, in 1866, where he said,
Our incomplete studies do not
permit actual classification;
but is better to leave
things by themselves
rather than to force them
into classes which have
their foundation only on paper.
And my own training in clinical
psychiatry that went from 2004
until 2009 reflected this as well.
The DSM categorization
of psychiatric disorders
is, frankly, not much better
than where things stood in 1866.
And we are massively ignorant
concerning the true uniqueness
of the complexity of
many different illnesses,
including illnesses
affecting the brain.
1:03
Another famous individual was
Dr. Down, or Langdon Down,
who first discovered
Down's Syndrome.
And, hence, the syndrome
is named after Dr. Down,
wrote this very prescient
comments in 1866
that, Those who have given
any attention to congenital
mental lesions must have been
frequently puzzled how to arrange,
in any satisfactory manner,
the different classes
of this defect, which may have
come under their observation.
Nor will the difficulty
be lessened by an appeal
to what has been
written on the subject.
These systems of
classification are generally
so vague and artificial that not
only do they assist but feebly,
in any mental arrangement of
the phenomena represented,
but they completely fail in
exerting any practical influence
on the subject.
And I've said already,
in the year 2015,
I would argue that the
current categorization schema
or mental illness are
frankly really not
much better than they were in 1866.