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Seyed Massoud Houshmand

Seyed Massoud Houshmand

National Institute for Genetic Engineering and Biotechnology, Iran

Title: Genetic counselling for mendelian and non mendelian disorders: Be familiar with metabolic, neuromuscular and immunodefeciency disorders

Biography

Biography: Seyed Massoud Houshmand

Abstract

A genetic consultation is a health service that provides information and support to people who have or may be at risk for genetic disorders. In genetic counseling, the professional’s help people learn about genetic conditions, find out their chances of being affected by having a child or another genetic conditioner and make informed decisions about testing and treatment. In other words, the professional investigates the problem present in the family, interprets information about the disorder, analyzes the inheritance patterns and recurrence risk, and reviews available options with the family. This workshop will discuss a variety of topics such as:

Draw pedigree for Mendelian and non Mendelian disorders with Example for better understanding of:

  1. Metabolic disorders
    1. Micromulecular Disorders (PKU)
    2. Macromulecular Disorders (MPS)
  2. Neuromuscular disorders
    1. Autosomal Dominant (CMT)
    2. Autosomal Receive (SMA)
    3. X-linked (DMD)
    4. 3 nucleotide Repeats (HD)
    5. Mitochondrial Disorders (LHON)
  3. Immunodeficiency disease.
    1. Autosomal Dominant (CGD)
    2. Autosomal Receive (SCID)
    3. X-linked (Wiscot-Aldrich)