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Volume 2
allied
academies
June 11-13, 2018 | London, UK
Neurology and Neuroscience
6
th
International Conference on
N
ext generation sequencing is facilitating the rapid and
cost effective surveilance of human genomes in order
to identify variants of pathological consequence. Inherited
neurological disorders represent one key area that have
strong potential to benefit from such a co-ordinated genetic
interrogation. Diagnostic confirmation of the presence of
deleterious DNA changes could lead to effective personalised
management protocols for the patient and also aid in informed
decision making with respect to family planning for parents
of affected children. New potential therapeutic targets may
be elicited if the gene or its associated physiological pathways
could be modulated by pharamacological intervention, thus
amelorating the deleterious effect of the variant change.
Bioinformatics is a broad term for a set of compuational
tools that facilitate variant identification and classification
(e.g. benign or pathogenic). In combination with adequate
clinical phenotyping data, the genetic locus/loci responsible
for the disorder can be identified. This lecture provides an
introduction to some of the computational approaches
that can be adopted by clinical exome sequencing teams
and how this information can be exploited to assist in
immediate and long-term clinical management protocols.
Speaker Biography
Shahid Mian is a Consultant in Clinical Research at King Fahad Medical City (KFMC),
Saudi Arabia. He is responsible for both the development and implementation of
bioinformatic pipelines that are applied to genomic sequence analyses. Dr Mian has
computationally processed over 800 patient exomes and is a member of the clinical
reporting team within the CAP (College of American Pathologists) accredited Pathology
and Clinical Laboratory Medicine at KFMC. This team is responsible for supporting
physicians in the management of patients with inherited genetic disorders including
those with neurological impacting disorders.
e:
smian@kfmc.med.saShahid Mian
King Fahad Medical City, Saudi Arabia
Bioinformatic approaches to assess the genetic basis of Neurological Disease