HYBRID EVENT: You can participate in person at Paris, France or Virtually from your home or work.

9th Edition of International Conference on

Neurology and Neurological Disorders

June 20-22, 2024 | Paris, France

Neurology 2023

Naser Gilani

Speaker at Neurology and Neurological Disorders 2023 - Naser Gilani
Farabi Medical Laboratory, Iran (Islamic Republic of)
Title : A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses

Abstract:

With more than 7,000 identified rare diseases and approximately 80 % being linked to genetic causes, diagnosing rare disease patients can often be difficult – resulting in lengthy, expensive, and emotional diagnostic odysseys, but with revolutionary advances in Molecular Diagnostic Techniques you have the genetic testing tool in hand to diagnose your patients in less time with high levels of certainty, with affordable cost. One of this techniques is Next Generation Sequencing that provide the possibility of doing monogenic, multigenic, whole exome, and whole genome sequencing just through days. In Neurology field with huge number of hereditary disease or disease with genetic based NGS is one of the important players that could be used to detect an array of neurological disorders from neonatal ICU cases to dementia or movement disorders in adults. In our article also thanks for advanced techniques like as NGS and other ones we found and report a novel mutation in CLN3 gene that is responsible for juvenile neuronal ceroid lipofuscinoses.

Audience Take Away

  • Get more information with details about some advanced techniques in molecular genetic field
  • Have an idea how they can get help from these facilities for do diagnosis of some complex genetic disease
  • Be informed about the usage of these procedures for providing a scientific paper in their institute or even clinic
  • Learn about the limitations beside the advantages of these available investigations

Biography:

Naser Gilani, Genetic Counsellor from 2013. MD, PhD in Molecular Biology and Genetics, Medical Doctor, graduated from Tehran University of Medical Science in 2003. PhD in Molecular Biology and Genetics, Turkey.Establish Farabi Medical Laboratory as the first Laboratory in North of Iraq working professionally in Medical Genetics field. Providing a wide range of Diagnostic Genetic tests. Establishing first genetic counselling clinic in area. Participation and presenting 17 lectures in Medical Genetics field, in International Congresses recent ones: Seven publications published, last one as “A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene “ that is published in Journal of Medical Genetics, leading human genetics journal with Impact Factor 6.318; Member of the Molecular Biology Society of Japan; Member of the editorial board of Neurology and Neuroscience Journal

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