Management of Genetic Diseases.Modern and Ayurvedic perspective

Includes gene therapy,basics of genetics,classification of genetic disorders,mutation,single gene defect,chromosomal mutations,causes of genetic mutations,detection of genetic disorder,diagnostic tests,PCR based assays,stemcell transplant,genetic engineering,genetic engineering,stem cell transplant.Genetics and ayurveda is alsp included

1. Management of Genetic Diseases Mahinsha Pareeth Final year BAMS

2. Basics of Genetics

3. Basics of Genetics

4. Basics of Genetics During cell division chromatids condenses to form CHROMOSOMES

5. Basics of Genetics Genes DNA molecules

6. Basics of Genetics Nitrogenous group Deoxyribose sugar Phosphate group This is Nucleotide Nucleotide-phosphate group= Nucleoside

7. Basics of Genetics

8. Classification of genetic disorders Genetic disorders Single gene mutations Chromosomal mutations Multifactorial Non Mendelian disorders Mendelian disorders Autosomal dominant Autosomal recessive X-linked recessive X-linked dominant Y-linked Structural disorders Numerical disorders

9. Mutation Sudden abrupt changes to genetic material of organisms Happens in DNA , Genes or chromosome completely Dogma theory DNA RNA PROTEIN Transcription Translation

10. Single gene defect നീ ശൂപ്പറാട But I have polydactyly

11. Father Mother Pp pp A P p p p Pp pp Pp pp *Cystic fibrosis 2 recessive alleles

12. Chromosomal mutations Structural mutations

13. Chromosomal mutations 2 .Numerical Mutations Trisomy 21 Down syndrome

14. Chromosomal mutations 2 .Numerical Mutations Klinefelter syndrome

15. Chromosomal mutations 2 .Numerical Mutations Turner syndrome

16. Causes of genetic mutations RADIATION CHEMICALS POLLUTED FOOD

17. Detection of genetic disorders Gene screening test Diagnostic test 1 Gene screening test/Non-invasive prenatal screening test Eg : USG Nuchal translucency scan or NT scan To estimate risk in developing fetus,of chromosomal abnormalities like Down syndrome Edward syndrome(trisomy 18) Patau syndrome(trisomy 13) Turner syndrome

18. 2. Diagnostic tests 1 . Molecular test DNA sequence is analyzed Targeted single variant test : looks for specific variant in one gene Eg : Sickle cell anemia Gene panel test : looks for variant in more than one gene Eg : Epilepsy Whole genome sequencing : When targeted single variant test and Gene panel test fails

19. Chromosomal tests Extra or missing copy of chromosomes can be identified Eg : Down syndrome Gene expression tests To look at which genes are turned on/off When cell is on: DNA Transcription RNA Translation PROTEIN Too much activity(over expression) or too little activity(under expression) is suggestive of genetic disorders Eg : cancer

20. Biochemical tests Do not directly analyze DNA , But they study the activity and amount of proteins or enzymes produced by the genes Eg : Biotinidase enzyme deficiency in biotinidase deficiency

21. Sources of sample collection Blood Hair Skin Amniotic fluid

22. Techniques used to find genetic variation Direct sequencing PCR – based assays Hybridization

23. PCR based assays Test by digestion with restriction enzymes or gel electrophorosis to detect the presence of genetic variation

24. Management of genetic disease Gene therapy

25. Management of genetic disease Stem cell transplant

26. Management of genetic disease Genetic engineering

27. Gene therapy It is the insertion of gene in to an individuals cell and tissues to treat a disease , a hereditary disease in which a defective mutant allele is replaced with functional one

28. Types of gene therapy Somatic cells of a patient are targeted for foreign gene transfer Effect is restricted to individual only and is not inherited Functional genes are inserted int o the germ cells ie ; sperm or eggs The effect of this therapy is heritable

29. Methods of gene therapy

30. Ex Vivo gene therapy

31. In Vivo gene therapy

32. Stem cell transplant An injury occur to organ or tissue Affected tissue releases specific compounds and release to blood and reach bone marrow Messengers in bone marrow produces new stem cells and release in to blood Number of stem cells increase in blood circulation Affected tissue release factor called SDF-1 It attracts stem cells and migrate to injured tissue Stem cells begin to multiply and slowly transform in to that tissues

33. Types of stem cell transplant

34. Procedure of stem cell transplant

35. Genetic Engineering Also called as genetic modification . It is a process that uses laboratory based technologies to alter the DNA make up of an organism . This may include changing a single base pair , deleting a region of DNA or adding a new segment of DNA

36. Stages of genetic engineering

37. Genetics and Ayurveda शुक्रार्तवस्थैर्जन्मादौ विषेणेव विषक्रिमेः ।। तैश्च तिस्रः प्रकृतयो हीनमध्योत्तमाः पृथक् समधातुः समस्तासु श्रेष्ठा, निन्द्या द्विदोषजाः ।। १० Ayurveda describe concepts of genetics as qualitative and quantitative predominance of doshika from birth which is responsible for the specific prakriti of an individual. The predominance of doshika depends upon characteristics of shukra and shonita which unite during the process of sexual intercourse resulting child birth. The hereditary diseases are caused by abnormalities in shukra and shonita .

38. Genetic units in Ayurveda Ayurveda described three components as main genetic unit; Beeja , Beejbhaga and Beejbhagavyava

39. Contribution of Bijabhaga and Bijabhagavayava in developing characters of fetus

40. Genesis towards Prakriti The inherited characters of foetus may be associated with various originated factors such as; Characters associated with father ( Pitrija ). Characters associated with mother ( Maatrija ). Characters associated with soul ( Atmaja ). Characters associated with mind ( Satvaja ). Characters associated with diet ( Rasaja ). Characters associated with homologation ( Satmyaja ).

41. Factors contributing towards genetic diseases The factors which contribute towards the prevalence of genetic disorders are as follows: Defect in shukra and shonita . Bija , Bijabhaga and Bijabhagavayava Kaala of conception and condition of uterus. Diatec regimen of the mother during pregnancy. Presence of diseases condition in parents. Characteristics mahabhutas which comprising foetus etc

42. Terms coined by different acharyas for Congenital diseases Susrutha : Aadhibala pravrutta Charaka : Kulaja vyadhi Vagbhata : sahaja vyadhi Bhela : Prakrithi prabhava

43. आधिबल प्रवृत्त रोग तत्र आधिबल प्रवृत्त ये शुक्रशोणित दोषनवय कुष्ठअर्श प्रभृतय ते अपि द्विविधा मातृज पितृजाश्च || The disease such as kushta and arsha are produced by the defects of shukra and shonitha are called आधिबलप्रवृत्त रोग .These are two types mathruja and pithrja Eg : kushta,arsha,prameha,shvitra,apasmara,badirya,mookatwa,vamana,varnaandyata

44. Management निदान परिवर्जन पथ्यापथ्य पालन स्वस्थवृत्त सदवृत्त दोषानसार & रोग लक्षणानुसार चिकित्सा

45. THANK YOU