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Hire Dr. Sahar E.

United Kingdom

Profile Summary

Results-driven Human Molecular Geneticist with over 10 years of research experience in gene discovery of genetics disorders with an emphasis on Central Nervous System diseases, my accomplishments and passions lie in utilizing genomics data to identify the genetics of diseases in advancement of modern healthcare and biotech sciences. My industry consulting experience includes interpretation of genomics data and hands-on knowledge of pathway analysis to develop preventative solutions to Dravet Syndrome. As a fellow, I demonstrated the ability to build collaborative environments with clinicians and geneticists. • Consulting experience in industry • Experience in interacting with clinicians and conducting translational research • Ability to interrogate large data sets and address biological hypotheses • Publications in top-tier journals TECHINICAL EXPERTISE Bioinformatics: Understand the workflow and am able to interpret high throughput data (i.e. Next Generation DNA-Sequencing), experience in using genomics database (i.e. UCSC, Ensemble, OMIM, ClinVar, 1000 Genome), Blast, Protein prediction (i.e. Uniprot, Expasy), Pathway analysis software packages (i.e. DAVID, CytoSCAPE and Ingenuity Pathway Analysis) Molecular Genetics: DNA and RNA based assays, Cell culture (i.e. primary neuron, iPSC), Immuno-staining, Sub-cloning, Florescence microscopy Translational research: Connecting Genomics data and clinical findings to find Genotypic-Phenotypic correlations Programing: Basic familiarity with Python and R Courses: Basic knowledge about Bio-stat (UCSF Courses EPI 217, BIOSTAT 219) Workshop: Linkage analysis at Max Delbruck Center, Berlin, 2008; UC Davis Next Gen Sequencing, Davis, 2015.

Subject Matter Expertise

• ☆ Genetics
• ☆ Genomics
• ☆ Next Generation Sequencing (NGS)
• ☆ DNA Sequencing
• ☆ RNA Sequencing
• ☆ Microscopy
• ☆ Phylogenetics

Services

• Consulting
• Data & AI
• Product Development

Work Experience

Zogenix

January 2015 - Present

Translational Genetics lab, Postdoctoral Fellow

University of California San Francisco School of Medicine

December 2010 - Present

Translational Genetics lab, Research Fellow

Max-Planck-Gesellschaft

December 2006 - October 2010

Education

PhD (Human Molecular Genetics)

Freie Universität Berlin Fachbereich Wirtschaftswissenschaft - Human Molecular Genetics

December 2006 - October 2010

MS.c (Human Genetics)

University of Social Welfare and Rehabilitation Science - Human Genetics

2003 - 2006

Certifications

• Certification details not provided.

Publications

JOURNAL ARTICLE

(2015). De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy . Annals of Clinical and Translational Neurology.

(2014). Epileptic Encephalopathies: New Genes and New Pathways .

(2014). De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies . Hum Genet.

(2013). Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria . PLOS Genetics.

(2013). De novo mutations in epileptic encephalopathies . Nature.

(2012). Mutations in NSUN2 cause autosomal-recessive intellectual disability . Am J Hum Genet.

(2011). Deep sequencing reveals 50 novel genes for recessive cognitive disorders . Nature.

(2010). A clinical and molecular genetic study of 112 Iranian families with primary microcephaly . J Med Genet.

(2009). Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population . Eur J Med Genet.

(2007). A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation . Am J Hum Genet.

(2007). Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci . Hum Genet.

(2006). SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly .

BOOK CHAPTER

(2014). Mental Retardation/Intellectual disability. Encyclopedia of the Neurological Sciences. Elsevier Science Ltd: New York.