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Volume 2
allied
academies
June 11-13, 2018 | London, UK
Neurology and Neuroscience
6 th International Conference on
Neurogenetic disorders are a frequent reason for medical
consultation in pediatric neurology service. Clinical
variability and genetic heterogeneity are the whole mark of
these diseases. Despite extensive metabolic and radiologic
workup, the diagnostic yield has been disappointingly low.
Whole exome sequencing (WES) has substantially accelerated
the pace of discovery of disease associated genes and ending
the diagnostic odyssey for many disorders. The diagnostic yield
of WES is approximately around 30% in neurogenetic disorders.
The diagnostic yield of 220 patients with various neurogenetic
disease from highly consanguineous families evaluated in our
center revealed a 25% pathogenic variants and 29% variant of
unknown significance. The analysis of WES remains challenging.
Determining whether this variant is disease causing or not is
not an easy task and it requires cumulative level of evidence
to ascertain pathogenicity. The ACMG/AMP guidelines
attempts to ensure evidence-based interpretation of variants
by considering multiple categories of data including allele
frequency, computational prediction tools, functional studies
that include cell lines or animal models, segregation studies and
gene specific information (Hoskinson, Dubuc et al. 2017).
Here we will shed some light on the challenges of variant
interpretation with some clinical cases illustration, we will
discuss the limitation of NGS testing as a stand alone test, the
clinician role in the rapidly expanding genomic medicine, the
importance of deep clinical phenotyping and we will share our
experience in WES in our neurogenetic clinic
Speaker Biography
Aqeela Al-Hashim,obtained her Bachelor of Medicine and Surgery (MBBS) from
King Faisal University in 2002, then she obtained her Saudi Board and Arab Board of
Pediatrics last 2008 after finishing her pediatric residency program in Riyadh, Saudi
Arabia. She obtained her certificate of Royal College of Physician and Surgeon of Canada
in child neurology (FRCPC) last 2015. She did Neurogenetics fellowship in clinical and
molecular genetics research at the Hospital for Sick Children , Toronto, Canada. She
is currently working as a consultant in pediatric neurology / neurogenetics at King
Fahad medical city in Riyadh , Saudi Arabia. She was awarded the very prestigious John
Prichard Prize for her research in Toronto. This prize resulted from her work in Corpus
callosum abnormalities. Her main research interest is translational research mainly in
genomic medicine, with utilization of functional molecular genetic studies to validate
novel genetic variations in neurogenetic disorders.
e:
Aqeela Al-Hashim
King Fahad Medical City, UAE
Utilization Of NGS data in Neurogenetic Disorders