stem-cells-2019-scientifictracks

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Volume 02

Stem Cells 2019 & Pediatrics Congress 2019

November 06-07, 2019

Journal of Clinical Genetics and Genomics

November 06-07, 2019 | Tokyo, Japan

STEM CELLS AND REGENERATIVE MEDICINE

PEDIATRICS AND CHILD CARE

International Conference on

World Congress on

J Clin Gen Genomics, Volume 02

Molecularly targeted therapy for spinal muscular atrophy (SMA) and duchene

muscular dystrophy (DMD): Kuwait experience

Laila Bastaki

Kuwait Genetic Center, Kuwait

pinal muscular atrophy (SMA) is an autosomal recessive, motor neuron disease caused by progressive degeneration of motor

neurons in the entire spinal cord and in select brainstem motor nuclei (nuclei of cranial nerves V, VII, IX and XII). The

disorder causes weakness and wasting of the voluntary muscles. Duchenne muscular dystrophy (DMD) is a severe degenerative

muscle disease that affects young males. It is an X-linked recessive disease caused by a mutation in DMD gene on chromosome

Xp21. These mutations prevent the production of a connective protein dystrophin. A lack of this connective protein results in

severely weakened muscle cells and loss of muscle functions accompanied by muscle tissue replacement by fat and connective

tissue. In September and December 2016, FADA approved the first precise molecularly targeted therapy for DMD (Exondys

51) and SMA (nusinersen). Shortly after the approval of these drugs we, at Kuwait Medical Genetic Center, started treatment of

patients fulfilling’s the inclusion criteria for therapy. Since then we are now treating 65 patients with SMA and 20 patients with

DMD. In my talk I will discuss our experience in this field in more details.

Biography

Laila Ali Bastaki completed PhD and currently working as a director of Kuwait Medical Genetic Center at State of Kuwait.