6 / 19
Notes:
Page 36
Volume 10
Journal of Neurology & Neurophysiology
ISSN: 2155-9562
Neurology Congress 2019
Vascular Dementia Congress 2019
July 22-24, 2019
JOINT EVENT
conferenceseries
.com
July 22-24, 2019 London, UK
&
12
th
International Conference on
Vascular Dementia
32
nd
European Neurology Congress
Clinical exome sequencing of patients from a highly consanguineous population: Novel pathogenic
variants impacting neurological function
Shahid Aziz Mian
King Fahad Medical City, Saudi Arabia
S
audi Arabia has a highly consanguineous population with specific geographical regions estimated to have rates
exceeding greater than 80%. The downstream effect of such population dynamics is to significantly enrich the
frequency at which recessive pathogenic variants occur and consequently their associated Mendelian disorders.
This is evident at both a community and a family level. King Fahad Medical City (KFMC) is a tertiary care facility
that diagnoses patients with inherited disorders through exome sequence analysis of germline DNA. Many of the
biological pathways negatively impacted by these pathogenic changes manifest at a neurological level. These include
for example intellectual disability, ataxia, epilepsy and white matter structural changes. The Department of Pathology
andClinical LaboratoryMedicine (PCLM) has sequenced the exomes of over 1100 patients. Novel pathogenic variants
in genes biologically and clinically linked to specific neurological conditions have been identified. Furthermore
the PCLM knowledge base has also implicated novel genes with no known function, to a variety of neurological
conditions. Evidence is presented at how genetic analysis of exome sequence data derived from patients orginating
within highly consanguineous populations can lead to the identification of novel genes/genetic variants linked to
neurological physiology.
Biography
Shahid Mian is a Consultant Clinical Research Scientist, PhD within the Department of Pathology and Clinical Laboratory Medicine (PCLM) at King Fahad
Medical City (KFMC), SaudiArabia. PCLM is a College ofAmerican Pathologists (CAP) accredited laboratory. He has responsibility for establishing bioinformatic
and variant reporting pipelines for the clinical exome analysis of paediatric patients with suspected inherited disorders. He has reviewed over 500 clinical exome
reports produced by third party laboratories for PCLM, independently reported over 100 patient exome results to KFMC physicians and analysed over 1300
exomes bioinformatically.
smian@kfmc.med.saShahid Aziz Mian, J Neurol Neurophysiol 2019, Volume 10