HUMAN GENE THERAPY

PRESENTED BY MR. VILAS KAMBLE

GUIDED BY GUIDED BY DR. (MRS.) USHA SHINDE DR. (MRS.) USHA SHINDE

PADMASHREE DR D.Y. PATIL COLLEGE PADMASHREE DR D.Y. PATIL COLLEGE OF PHARMACY AKURDI PUNE-411033OF PHARMACY AKURDI PUNE-411033

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CONTENT INTRODUCTION BRIF HISTORY OF GENE THERAPY APPROCHES FOR GENE THERAPY STAPES INVOVED IN GENE THERAPY TYPES OF GENE THERAPY VECTOR USED IN GENE THERAPY EXAMPLES OF DISEASE BRIF ABOUT SCID CURRENT SINARIO OF GENE THERAPHY FOR

DIABETES MELLITUS TREATMENT OF DM BY USING GENE THERAPHY USES OF GENE THERAPHY REFERENCES

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INTRODUCTION1

Advance in biochemistry and molecular biology have helped to uderstand the genetic basis of disease.It was dream of the researchers to replace the defective genes with good once,and cure the genetic disorder.1

Defination:- Gene therapy can be broadly defined as the transfer of genetic material to cure a disease or at least to improve the clinical status of a patient.2

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BRIF HISTORY OF GENE THERAPY3 Sr no.

Year Scintist name

Work done

1 1972 Fridman and Robin

Peblished a paper in Science titled Gene therapy for human genetic disease.

2 1972 Rogers was cited for proposing that exogenous good DNA be used to replace the defective DNA in those who suffer from genetic defects

3 1990 William French Anderson 31 Dec-1936

Pionear of gene theraphy.He success in gene therapy of Four-year-old Ashanti DeSilva received treatment for a genetic defect that left her with SCID.(14 Sep 1990)

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APPROCHES FOR GENE THERAPY

Insertion of normal gene inplace nonfunctional gene.2

Repairing of abnormal genes.2

Somatic cell gene theraphy.1

Germ cell gene theraphy.1

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STAPES INVOVED IN GENE THERAPY1

Invitro experiment and research on lab animal (pricliical trial)

Phase-I Trial with a small no of human subject.

Phase-II Trial with more human subject to assess whether the produt is helpful or not.

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STAPES INVOVED IN GENE THERAPY1

Phase-III trial in larg human sample for final and compreesive analysis of the safety and efficacy

of the product

Final therapy or product launch in the market

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TYPES OF GENE THERAPY1

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TYPES OF GENE THERAPY1 EX-VIVO GENE THERAPHY IN-VIVO GENE THERAPHY

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VECTOR USED IN GENE THERAPY Vector:- The carrier partical or molecules used to

deliver gene to somatic cells are called vector.1

Types of vector:-

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VECTOR USED IN GENE THERAPY 05/03/2305/03/23

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EXAMPLES OF DISEASE1

Selected list of genetic disease that are likely to be cure by using bone marrow cells are-

SCID Sickle cell anemia Thalassemia Hunter disease Osteoporesis Diabetes

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BRIF ABOUT SCID It also know as alymphocytosis or Glanzmann–

Riniker syndrome.4

The most commonly quoted figure for the prevalence of SCID is around 1 in 100,000 births.4

Human SCID is a prenatal disorder of T lymphocyte development, already present at birth even if clinically silent in most affected newborns.5

This is rare inherited disorder associated with T-lymphocytes disfunction.5

About 50% of SCID patient have defect in the gene located on chromosomes 20,that encode for adenosine diaminase.5

No production of adenosine diaminase5

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BRIF ABOUT SCID1 No production of adenosine diaminase.

Accumulation of deoxyadenosine and it’s metabolites deoxyadenosine-5-phosphate

Accumulated metabolite destroyed T-lymphocytes present in the body

Collaped the immunity system of the body

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BRIF ABOUT SCID

Persone suffer for various infective diseaseses

Die at the young age

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TREATMENT OF SCID BY GENE THERAPY

Universal blue circle Universal blue circle

symbol for diabetessymbol for diabetes..

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CURRENT SINARIO OF GENE THERAPHY FOR DIABETES MELLITUS

Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic diseases in which there are high blood sugar levels over a prolonged period6

Epidemiology:- Acco. International Diabetis Fedration, 1.One peaple of DM per two normal

peaple. 2.4.9 million people death because of

DM untill 2014.

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BRIF HISTORY OF DM First diseases described, with an Egyptian

manuscript from at 1500 BC Indian physicians around the same time

identified the disease and classified it as madhumeha.(honey urine).

Diabetes=to pass through Hippocrates said that, “DM is incurable” Galen named the disease “diarrhea of the

urine”

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WHAT IS DM8

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TREATMENT OF DM BY USING GENE THERAPHY 10

Treatment of type-I DM Type-I DM caused by body own immune cell

damage of b-cell

Uses chord blood to reeducate DM Own cell

regulate pancreatic function

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USES OF GENE THERAPHY Disease name SCID Sickle cell anemia Thalassemia Hunter disease Osteoporesis Diabetes

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PROBLEMS IN GENE THERAPY1,9,10

Short-lived nature of gene therapy Immune response and toxicity Problems with viral vectors Restricted targeting of specific cell types Multigene disorders Insertional mutagenesis Religious concern Deaths may occured

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REFERENCES1.Satyanarayana U., “Biotechnology”,published by

books and allied Pvt.Ltd,eight edition 2013,page no-157,

2.Patil P.M, et al,Review Article On Gene Therapy,International Journal of Genetics ISSN: 0975-2862 & E-ISSN: 0975-9158, Volume 4, Issue 1, 2012,:74-79.

3.https://en.wikipedia.org/wiki/Gene_therapy#cite_note-55

4.https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency

5. Cossu F. Italian Journal of Pediatrics 2010, 36:76.

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REFERENCES6. https://en.wikipedia.org/wiki/Diabetes_mellitus.7. Ozougwu, J. C. , Obimba, K. C. , Belonwu, C. D.3 ,

and Unakalamba, C. B, Review The pathogenesis and pathophysiology of type 1 and type 2 diabetes mellitus , Journal of Physiology and Pathophysiology, Vol. 4(4), pp. 46-57, September, 2013 DOI 10.5897/JPAP2013.0001 ISSN 2I41-260X © 2013 Academic Journals

8. http://www.idf.org. 9. https://en.wikipedia.org/wiki/History_of_diabetes. 10.Patel K.P,Joshi H.M,Majumdar E.P,Patel V.J,Newer

approches in tretment of DM,NHL journal of medical science,Jan-2013,vol-2,issue-I.

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