Need a quick update about a specific genetic condition?

Visit our updated genetic conditions pages; more coming soon
When you’ve only got five minutes to spare and need a quick update about a specific genetic condition, try visiting our genetic conditions section.  We’ve recently re-launched 23 of our conditions which now feature information relevant to the condition, on:

  • Clinical features
  • Diagnosis
  • Genetic basis
  • Clinical management
  • Genetic testing

You will also find resources about:

  • How the condition is inherited
  • Chromosome pattern associated with a condition
  • Information on drawing a family history
  • Resources for teaching
  • External links to relevant support groups or charities

The new style pages are now available for:

  1. Achondroplasia
  2. ADPKD
  3. Beta-thalassaemia
  4. Cerebral palsy
  5. Charcot-Marie-Tooth disease
  6. Congenital adrenal hyperplasia
  7. Congenital sensorineural deafness
  8. Cystic Fibrosis
  9. Diabetes
  10. Down syndrome
  11. Duchenne and Becker muscular dystrophy
  12. Edwards syndrome
  13. Familial Hypercholesterolaemia
  14. Fragile X syndrome
  15. Haemochromatosis
  16. Haemophilia
  17. Inherited bowel cancer
  18. Inherited breast cancer
  19. Marfan syndrome
  20. Myotonic dystrophy
  21. Neurofibromatosis type 1
  22. Patau syndrome
  23. Sickle cell

The remainder of the conditions are due to be updated soon.

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