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Clinical Genetics

Clinical Genetics. Clinical Genetics. Imad Fadl-Elmula Department of Pathology Faculty of Medicine Al Neelain University. Imad Fadl-Elmula Al Neelain University. Definition. Study of the genes. Medical genetics Clinical genetics. 40.000. History. Charles Darwin

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Clinical Genetics

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  1. Clinical Genetics Clinical Genetics Imad Fadl-Elmula Department of Pathology Faculty of Medicine Al Neelain University Imad Fadl-Elmula Al Neelain University

  2. Definition Study of the genes • Medical genetics • Clinical genetics 40.000

  3. History • Charles Darwin • On the evolution of species • Evolution Theory Darwin Fadl-Elmula

  4. Hybridization Experiments • Basic Laws of Heredity and Law of • Independent Assortment. • Findings rediscovered in1900. • Gregor Mendel (1822-1884) • Augustinian monk in Czechoslovakia. • Attended University of Vienna Fadl-Elmula

  5. The somatic mutation theory of cancer Theodor Boveri (1862-1915) Acquired genetic changes are the main causes of malignant transformation oftarget cells. Fadl-Elmula

  6. Rise of Modern Genetics • Discovery of Chromosomes • Walter Flemming in 1882. Salamander larva

  7. Thomas Hunt Morgan 1910 • Fruit fly experiments in 1910. Trait are • sex linked and reside on chromosome. • Realization that chromosomes are • blueprints of life.

  8. (?) , XX (?) , XY Chromosomes Painter (1921)

  9. Watson and Crick Discovered double helix structure of DNA in 1953

  10. The correct number of Human chromosomes € 46,XY ƒ 46,XX (Tjio & Levan, 1956) (Tjio & Levan, 1956) Fadl-Elmula

  11. Fadl-Elmula

  12. Mutations Altered gene Altered Protein Altered function Fadl-Elmula

  13. Important ? . High incidence 2-5% of all liveborn. 30% of pediatric addmision. Incurable and often severe .........prevention ....Genetic counsleing

  14. Important ? Clinical services 1. Accurate diagnosis 2. The risk of devoloping and transmision prognosis 3. Treatment (genetherapy)

  15. The scope of genetics • The human genome has been sequenced! • Approximately 35,000 genes, most of which encode a protein, in a haploid genome of 3 X 109 base pairs • Only about 1.5 % of the DNA actually encodes functional genes • All living organisms are remarkably similar at the genetic level • Same genetic code. • About 50 % of genes comparable between us and plants. • All nucleated somatic cells have a complete set of genes. • Only a small fraction of genes are active in a single cell • Enables cloning.

  16. Prevalence of genetic disease

  17. Genetic disease 1. Single gene (Mendelelian-4000) 2. Somatic Mutation (cancer) 3. Chromosomal (conostitusion) 4. Multifactorial (Diabetis, IHD) Specialized laboratory 1. Cytogenetics 2. Molecular cytogenetics 3. Biochemical genetic 4. Molecular genetic

  18. Clinical applications Diagnostic. Diagnostic n Preventative. Preventative n ☻Carrier detection ☻Population screening Preclinical diagnosis Preclinical diagnosis n n Genetic monitoring Genetic monitoring n Therapeutic. n Therapeutic

  19. Consultations and management • Clinical geneticist. • Developmental pediatrician. • Cardiologist. • Ophthalmologist. • Neurosurgeon. • Orthopedic specialist. • Psychiatrist. • Physical and occupational therapist. • Speech-language pathologist. • Audiologist.

  20. Is it all what we see ? Fadl-Elmula

  21. Fadl-Elmula

  22. Fadl-Elmula

  23. LOOK FROM ANOTHER ANGLE! Fadl-Elmula

  24. Earth Cell E Sudan E E €  E Country Chromosome E € E E Region Chromosome segment North Kordofan Cities genes Region S. Nucleotide

  25. Clinical applications Diagnostic. Diagnostic n Preventative. Preventative n ☻Carrier detection. ☻Population screening. Preclinical diagnosis. Preclinical diagnosis n n Genetic monitoring. Genetic monitoring n Therapeutic. n Therapeutic

  26. The genetic profiles of a disease can be assessed at different level of resolution Clasical cytology Cytogenetics Molecular Cytogenetics Molecular Genetics Array ­? Fadl-Elmula

  27. Clasical cytology

  28. Cytogenetics CML (Bcr/Abl) (Rowley, 1973) Fadl-Elmula

  29. Molecular cytogenetic (FISH) FISH of BCR-ABL Green: BCR Red: ABL

  30. BCR-ABL Gel K562 Pt 1 Pt 2 Pt 1 Pt 2 ABL BCR-ABL 10-4 K562 BCR-ABL ABL

  31. Prevention

  32. Fadl-Elmula

  33. Genetic counseling Fadl-Elmula

  34. Follow up Evaluation of bone marrow transplants (BMT) A girl transplanted with BM cells from her brother interphase FISH RELAPSE Y chromosome X chromosome

  35. PROGNOSIS AML and ALL 11q23-aberrations Probes: wcp10 wcp11 742f9 (MLL) wcp11 11 10 del(10)(p11) 11 14 der(11)inv(11)(q13q23)del(11)(q13) der(14)t(11;14)(q13;q32)t(10;11)(?;q23) 11q13 11q23 1114 VERY POOR in general

  36. "Every scientist, physician, or paramedical who practices in the 21st century must have an in-depth knowledge of the principles of clinical genetics and their application to a wide variety of clinical conditions. Each Health School is demanded to incorporate genetics teaching into its curriculum"

  37. Thank you Fadl-Elmula

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