Clinical Genetics
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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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Clinical Genetics

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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


Clinical genetics

Definition

Study of the genes

  • Medical genetics

  • Clinical genetics

  • 40.000


    Clinical genetics

    History

    • Charles Darwin

    • On the evolution of species

    • Evolution Theory

    Darwin

    Fadl-Elmula


    Clinical genetics

    • 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


    Clinical genetics

    The somatic mutation theory of cancer

    Theodor Boveri (1862-1915)

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

    Fadl-Elmula


    Clinical genetics

    Rise of Modern Genetics

    • Discovery of Chromosomes

    • Walter Flemming in 1882. Salamander larva


    Clinical genetics

    Thomas Hunt Morgan 1910

    • Fruit fly experiments in 1910. Trait are

    • sex linked and reside on chromosome.

    • Realization that chromosomes are

    • blueprints of life.


    Clinical genetics

    (?)

    ,

    XX

    (?)

    ,

    XY

    Chromosomes

    Painter (1921)


    Clinical genetics

    Watson and Crick

    Discovered double helix structure of DNA in 1953


    Clinical genetics

    The correct number of Human chromosomes

    46,XY

    ƒ

    46,XX

    (Tjio & Levan, 1956)

    (Tjio & Levan, 1956)

    Fadl-Elmula


    Clinical genetics

    Fadl-Elmula


    Clinical genetics

    Mutations

    Altered gene

    Altered Protein

    Altered function

    Fadl-Elmula


    Clinical genetics

    Important ?

    .

    High incidence

    2-5% of all liveborn.

    30% of pediatric addmision.

    Incurable and often severe

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


    Clinical genetics

    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.


    Clinical genetics

    Prevalence of genetic disease


    Clinical genetics

    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


    Clinical genetics

    Consultations and management

    • Clinical geneticist.

    • Developmental pediatrician.

    • Cardiologist.

    • Ophthalmologist.

    • Neurosurgeon.

    • Orthopedic specialist.

    • Psychiatrist.

    • Physical and occupational therapist.

    • Speech-language pathologist.

    • Audiologist.


    Clinical genetics

    Is it all what we see ?

    Fadl-Elmula


    Clinical genetics

    Fadl-Elmula


    Clinical genetics

    Fadl-Elmula


    Clinical genetics

    LOOK FROM ANOTHER ANGLE!

    Fadl-Elmula


    Clinical genetics

    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


    Clinical genetics

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

    Clasical cytology

    Cytogenetics

    Molecular Cytogenetics

    Molecular Genetics

    Array

    ­?

    Fadl-Elmula


    Clinical genetics

    Clasical cytology


    Clinical genetics

    Cytogenetics

    CML (Bcr/Abl) (Rowley, 1973)

    Fadl-Elmula


    Clinical genetics

    Molecular cytogenetic (FISH)

    FISH of BCR-ABL

    Green: BCR

    Red: ABL


    Clinical genetics

    BCR-ABL Gel

    K562

    Pt 1 Pt 2

    Pt 1 Pt 2

    ABL

    BCR-ABL

    10-4

    K562

    BCR-ABL

    ABL


    Prevention

    Prevention


    Clinical genetics

    Fadl-Elmula


    Clinical genetics

    Genetic counseling

    Fadl-Elmula


    Clinical genetics

    Follow up

    Evaluation of bone marrow transplants (BMT)

    A girl transplanted with BM cells from her brother

    interphase FISH

    RELAPSE

    Y chromosome

    X chromosome


    Clinical genetics

    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


    Clinical genetics

    "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"


    Clinical genetics

    Thank you

    Fadl-Elmula


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