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
