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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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slide1

Clinical Genetics

Clinical Genetics

Imad Fadl-Elmula

Department of Pathology

Faculty of Medicine

Al Neelain University

Imad Fadl-Elmula

Al Neelain University

slide2

Definition

Study of the genes

      • Medical genetics
  • Clinical genetics

40.000

slide3

History

  • Charles Darwin
  • On the evolution of species
  • Evolution Theory

Darwin

Fadl-Elmula

slide4

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

slide5

The somatic mutation theory of cancer

Theodor Boveri (1862-1915)

Acquired genetic changes are the main causes of malignant transformation oftarget cells.

Fadl-Elmula

slide6

Rise of Modern Genetics

  • Discovery of Chromosomes
  • Walter Flemming in 1882. Salamander larva
slide7

Thomas Hunt Morgan 1910

  • Fruit fly experiments in 1910. Trait are
  • sex linked and reside on chromosome.
  • Realization that chromosomes are
  • blueprints of life.
slide8

(?)

,

XX

(?)

,

XY

Chromosomes

Painter (1921)

slide9

Watson and Crick

Discovered double helix structure of DNA in 1953

slide10

The correct number of Human chromosomes

46,XY

ƒ

46,XX

(Tjio & Levan, 1956)

(Tjio & Levan, 1956)

Fadl-Elmula

slide13

Mutations

Altered gene

Altered Protein

Altered function

Fadl-Elmula

slide14

Important ?

.

High incidence

2-5% of all liveborn.

30% of pediatric addmision.

Incurable and often severe

.........prevention ....Genetic counsleing

slide15

Important ?

Clinical services

1. Accurate diagnosis

2. The risk of devoloping and transmision

prognosis

3. Treatment (genetherapy)

the scope of genetics
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.
slide18

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

clinical applications
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

slide20

Consultations and management

  • Clinical geneticist.
  • Developmental pediatrician.
  • Cardiologist.
  • Ophthalmologist.
  • Neurosurgeon.
  • Orthopedic specialist.
  • Psychiatrist.
  • Physical and occupational therapist.
  • Speech-language pathologist.
  • Audiologist.
slide25

Earth Cell

E

Sudan

E

E



E

Country Chromosome

E

E

E

Region Chromosome segment

North

Kordofan

Cities genes

Region S. Nucleotide

clinical applications1
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

slide27

The genetic profiles of a disease can be assessed at different level of resolution

Clasical cytology

Cytogenetics

Molecular Cytogenetics

Molecular Genetics

Array

­?

Fadl-Elmula

slide29

Cytogenetics

CML (Bcr/Abl) (Rowley, 1973)

Fadl-Elmula

slide30

Molecular cytogenetic (FISH)

FISH of BCR-ABL

Green: BCR

Red: ABL

slide31

BCR-ABL Gel

K562

Pt 1 Pt 2

Pt 1 Pt 2

ABL

BCR-ABL

10-4

K562

BCR-ABL

ABL

slide35

Follow up

Evaluation of bone marrow transplants (BMT)

A girl transplanted with BM cells from her brother

interphase FISH

RELAPSE

Y chromosome

X chromosome

slide36

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

slide38

"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"

slide39

Thank you

Fadl-Elmula

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