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- Genetics of Developmental Disorders
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1. Imprinting disorders associated with molecular changes on chromosome 11p15
- Prof. Rosanna Weksberg
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2. Chromatin genes and disease
- Prof. Richard Gibbons
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3. Heterochromatin, epigenetics and gene expression
- Prof. Joel C. Eissenberg
- Cardiopulmonary Disease
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4. Transcription factors and complex disease development
- Dr. Ines Pineda-Torra
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5. Molecular genetics of pulmonary arterial hypertension
- Prof. Richard C. Trembath
- Neuromuscular System Diseases
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6. Gene therapy for the muscular dystrophies
- Prof. Jeff Chamberlain
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7. RAS pathway and disease: neurofibromatosis and beyond
- Prof. Eric Legius
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8. Congenital syndromes of pain and painlessness
- Prof. Geoff Woods
- Prof. James Cox
- Endocrinology and Metabolism
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9. Changing lives: stratified medicine in monogenic diabetes
- Prof. Andrew Hattersley
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10. Genetics of monogenic obesity 1
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
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11. Genetics of monogenic obesity 2
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
- Cancer Genetics
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13. Inherited predisposition to breast cancer
- Prof. Diana Eccles
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14. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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16. NF2-related Schwannomatosis and Gorlin Syndrome
- Prof. D. Gareth R. Evans
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17. The genetic basis of kidney cancer
- Dr. W. Marston Linehan
- Oligogenic and Complex Diseases
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18. Ciliopathies and oligogenic phenomena
- Prof. Nicholas Katsanis
- Therapy
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19. Mismatch repair deficient cancers & Lynch syndrome
- Prof. Sir John Burn
- Archived Lectures *These may not cover the latest advances in the field
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20. Mismatch repair deficient cancers: diagnosis, treatment and prevention
- Prof. Sir John Burn
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21. NF2 & Gorlins
- Prof. D. Gareth R. Evans
Printable Handouts
Navigable Slide Index
- Introduction
- What is pain?
- How much pain is someone suffering?
- What is the use of pain?
- Pain to moderate human behavior
- Pain pathways
- Types of pain
- How pain is perceived by nociceptors (1)
- How pain is perceived by nociceptors (2)
- Primary erythromelalgia
- Mutations in SCN9A cause erythromelalgia
- SCN9A erythromelalgia
- Voltage-gated ion channel (1)
- Paroxysmal extreme pain disorder
- Mutations in SCN9A cause PEPD
- SCN9A in PEPD
- Voltage-gated ion channel (2)
- Case histories
- Congenital insensitivity to pain
- Map of SCN9A gene
- Electrical activity of WT vs mutant (1)
- Low-copy number vector = pcDNA3JC
- Electrical activity of WT vs mutant (2)
- SCN9A mutations
- Ion channels on nerve terminals
- SCN9A family genes variants
- Man vs. mouse
- Genes that play a role in pain
- Membrane domain lineup
- Neuropathies HSANs
- Rita Levi Montalcini
- Nerve growth facror beta
- Gene expression at early stage of embryogenesis
- TRKA signaling
- HSAN4
- Family history
- Family tree
- HSAN4/HSAN5 phenotype
- HSAN5 - NGFB
- NGFB deficiency infections
- NGFB summary
- Summary of neuropathies causes
- Familial dysautonomia
- Treatment of pain
- Mendelian disorders of pain
- References
Topics Covered
- What is pain?
- How much pain is someone suffering?
- What is the use of pain?
- Pain pathways
- Types of pain (Nociceptive, Inflammatory, Neuropathic, mixed)
- Primary erythromelalgia
- Mutations in SCN9A cause erythromelalgia
- Voltage-gated ion channels
- Paroxysmal extreme pain disorder (familial rectal pain)
- Mutations in SCN9A cause PEPD
- Congenital insensitivity to pain
- SCN9A gene map
- Electrical activity of wild type versus mutant constructs
- Low-copy number vector = pcDNA3JC
- Exon 6 splice variants
- Neuropathies HSANs
- Rita Levi Montalcini
- TRKA signalling
- Hereditary autonomic and sensory neuropathy type 4 (HSAN4)
- HSAN5
- NGFB
- Familial dysautonomia
- Treatment of pain
- Mendelian disorders of pain
- Update talk: Congenital insensitivity to pain
- Update talk: Genetic pain loss disorders and associated mutations
- Update talk: Hereditary sensory neuropathy
- Update talk: Hereditary sensory and autonomic neuropathy
- Update talk: FAAH-OUT-associated pain insensitivity
- Update talk: Mutated genes as potential analgesic drug targets
- Update talk: Painful genetic disorders
Links
Series:
Categories:
Talk Citation
Woods, G. and Cox, J. (2024, February 29). Congenital syndromes of pain and painlessness [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 14, 2024, from https://doi.org/10.69645/IFDZ5827.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Geoff Woods has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
- There are no financial/commercial matters to disclose.
Update Available
The speaker addresses developments since the publication of the original talk. We recommend listening to the associated update as well as the lecture.
- Full lecture Duration: 56:31 min
- Congenital Syndromes of Pain and Painlessness: an update Duration: 10:49 min
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:00
Hello, my name is
Geoff Woods, and I work
in the Department of Medical
Genetics in Cambridge.
And I'm both a clinician
and a researcher
who works on Mendelian
disorders of pain.
The talk I'm giving you today
is called congenital syndromes
of pain, that's people
who get excess pain,
and painlessness, people
who suffer no pain at all.
0:22
What is pain?
Pain can be thought of
in two different ways.
It can be what we perceive as an
unpleasant stimulus in our brain
when we're conscious.
But it is also the body recognizing
when there's tissue damage,
such as at the bottom picture
with severe frostbite.
Or also, more
sophisticatedly, when tissues
are about to be damaged
if a stimulus continues.
And often people differentiate
pain, which is the tissue damage,
from suffering, which is
the perception of the tissue
damage by our central
nervous system.
0:57
How much pain is someone suffering?
It's very difficult to tell, because
there are no objective measures.
We can observe pain by
empathy, but we can't really
grade how much pain one
person is suffering compared
to another person or
compared to ourselves.
And we also can't
tell whether someone
is in physical pain or emotional
pain, or a mixture of the two.
And this has made a lot of
studies, pain, and analgesics
very difficult.
1:29
What is the use of pain?
When it's just not there to
make a suffer on the earth,
it has two major functions.
The first is to help us protect
our bodies, to avoid harm,
and to allow us to give our bodies
time in a situation to heal.
And the second role of
pain is developmental,
allowing us to use
our bodies optimally.