Rare disease day - feb 29th 2016 - kevin mitchell
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Kevin Mitchell, Associate Professor in TCD's Institute of Genetics looks at the genetic side of rare diseases.
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Rare disease day - feb 29th 2016 - kevin mitchell
- 1. Are common disorders really collections of rare disorders? Kevin Mitchell Institute of Genetics Trinity College Dublin
- 2. Common vs Rare Autism Epilepsy Schizophrenia Intellectual Disability VCFS (22q11) Fragile X Rett Pitt-Hopkins Timothy Williams Tuberous sclerosis Angelman Prader-Willi
- 3. Diagnoses of exclusion • Major diagnostic categories are based on similarity of symptoms and ignorance of causes • Psychological symptoms are defined by interview/behavioural reports – no blood tests, brain scans, or other biomarkers • Underlying mechanisms may be highly diverse
- 4. Genetics reveals diversity of causes • Traditional cytogenetics • Molecular technologies to detect chromosomal deletions and duplications • Genome sequencing to detect single mutations More and more cases of “common disorders” recognised as discrete, rare genetic conditions
- 6. Can reveal large differences
- 8. CGH allows detection of even small events and gives precise molecular information
- 9. Can identify which genes disrupted
- 14. Genetic variation • Each of us carries ~150 mutations affecting different proteins • Sometimes one or more of those mutations cause disease
- 15. How many cases can be diagnosed? (2011)
- 18. Complexity of genetic effects • Some cases may have one identifiable genetic cause • Many others may involve multiple genetic effects - probably a unique spectrum in each person • Specific mutations can have diverse effects across people
- 19. Why make genetic diagnoses? • Diagnostic certainty • Information on whether mutations are inherited or new • Prediction of risk to subsequent children • Therapeutic implications in some cases • Driving rare disease research
- 20. Conclusions • Common diagnostic categories hide underlying genetic diversity of causes • Rare disorders may be collectively much more common than currently recognised • Genetics is revealing many underlying causes • Genetics services need to keep pace with rapid advances in science