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Dr. Sabika Firasat Father’s Name: Date of Birth: CNIC No: Nationality: Marital Status: Email Address: Phone No: Official Address: Malik Jaffar Hussain 23 December, 1983 37203-6266682-6 Pakistani Married [email protected] +9251905525256-57 Department of Biosciences, University of Wah, Quaid Avenue, Wah Cantt. Objective I am keen to embark on a career where I can serve the research/teaching group in a challenging and dynamic environment towards a successful career by making the best out of my research abilities and interpersonal skills. I see myself as an active contributor to a team of dedicated and ambitious people working on projects that involve blend of Genetics, Proteomics and Molecular Biology and thereby enhance my knowledge and personality. I have a strong motivation to pursue career in frontier areas of Biotechnology field. Academic Record Post-Doctorate (Molecular Biology/Clinical Chemistry) (2014) Institute of Clinical Chemistry / UMG-Laboratories, Georg August University, Göttingen, Germany. Ph.D (Molecular Biology/Human Genetics) (2009) National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore. M.Phil (Molecular Biology/Human Genetics) (2006) 81.9%, 1ST Division National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore. M.Sc. (Zoology) (2003) 75.8%, 1ST Division Department of Zoology, University of the Punjab, Lahore Research work o Post-Doctoral Research Project: “Shear stress implications in endothelial dysfunction” Endothelial dysfunction (ED) precedes the development of cardiovascular diseases which are among the leading causes of morbidity and mortality worldwide. ED is considered as an early sign of atherosclerosis and is attributed to a reduction in nitric oxide (NO) bioactivity and an increase in oxygen free radical formation. Endothelial cells lining the inner surface of all blood vessels of cardiovascular system are continuously exposed to hemodynamic shear stress and the nature and magnitude of shear stress has critical implications for atherosclerosis. Shear stress directly determines endothelial cell morphology, metabolism, and inflammatory phenotype through signal transduction as well as gene and protein expression. This project was aimed to study endothelial cell dysfunction in response to low oscillating shear stress experienced by atheroprone regions of vasculature. A summary of project is as follow: 1. Cellular dysfunction in response to oscillating shear stress exposure in cultured immortalised human umbilical vein endothelial cells was by: Quantification of Nitric Oxide (NO) production by cultured cells for functional assessment. Measurement of reactive oxygen species produced by cultured cells in after shear stress treatment. 2. Characterisation of NOS-3 gene to elucidate endothelial cells phenotype in response to shear stress exposure. 3. Evaluation of selected potential target molecular pathway/s of endothelial dysfunction in association to oscillating shear stress treatment using chromatin immune purification (ChIP). 4. Shear stress induced differential proteome analysis using mass spectrometry. 5. Characterisation of important genes/proteins involved in rescuing endothelial cells from functional impairment in an NO-independent manner. o Ph.D Research Project: “Genetic basis of glaucoma in Pakistani families” This study was designed to explore the genetic basis of glaucoma especially recessively inherited primary congenital glaucoma (PCG) using consanguineous Pakistani population. A summary of the project is as follow: 1. A total of 25 families having multiple glaucoma affected individuals were enrolled through eye hospitals from different cities of Pakistan. 2. For exclusion of reported loci/genes, at least four microsatellite markers for each of the reported locus/gene were PCR amplified and genotyped. 3. As a result of haplotype analysis and LOD score calculation, four PCG affected families were found linked to GLC3A locus harboring CYP1B1 gene. 4. 5. 6. 7. 8. 9. 10. o Mutational analysis of CYP1B1 gene identified four novel (L177R, L487P, D374E and W434R) mutations. Genome wide search was performed on unlinked families to identify new locus for glaucoma phenotype using ABI Prism Linkage Mapping Set, Version 2.5 MD10. A novel locus for PCG was mapped to chromosome 14q24.2-q24.3 in three consanguineous families. As a consequence of candidate gene search null mutations in LTBP2 gene were identified as a cause of PCG phenotype in these families. Results of this study i.e., identification of four new mutations in CYP1B1 and identification of a new autosomal recessive PCG gene reaffirm the genetic heterogeneity of glaucoma. These results are novel inputs in the existing repertoire of glaucoma genetics and will pave the way for in-depth knowledge in the biological processes that are involved in the etiology of glaucoma. Furthermore, these findings will be helpful in decreasing the risk of glaucoma in our population by providing awareness and knowledge through carrier screening and genetic counseling. M.Phil Research Project: “Linkage analysis for RLBP1 gene in consanguineous arRP families” This project was a step towards the identification of genetic defects that are responsible for retinitis pigmentosa (RP) phenotype in families linked to reported RP loci. A summary of the project is as follow: 1. Thirty consanguineous families having a family history of RP and an autosomal recessive pattern of inheritance were enrolled for this study. 2. Blood samples of these families were collected, genomic DNA was isolated and amplified using flourescently labeled microsatellite markers. 3. PCR products were pooled and analyzed on ABI 3100 or ABI 3730 genetic analyzer using gene scan software and haplotypes were constructed. 4. Families were analyzed for linkage to four non-syndromic recessive RP loci/genes MERTK, CNGB1, RP22 and RLBP1. 5. RP phenotype in one family having four affected individuals showed linkage to RLBP1 gene. 6. This is first Pakistani family showing linkage to RLBP1 gene, indicating rare prevalence of this gene in our population. 7. The unlinked families found during the this study shows that RP in these families may be due to another locus/gene, which not only indicate the molecular heterogeneity of RP but also a high probability of finding new loci and genes for RP in our population. Publications 1. Firasat, S., Riazuddin, S.A., Khan, S.N. and Riazuddin, S. (2008) Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol. Vis. 14: 2002-2009. 2. Firasat, S., Riazuddin, S.A., Hejtmancik, J.F. and Riazuddin, S. (2008) Primary congenital glaucoma localizes to chromosome 14q24.2-q24.3 in two consanguineous Pakistani families. Mol. Vis. 14: 1659-1665. 3. Ali, M., McKibbin, M., Booth, A., Parry, D.A., Jain, P., Riazuddin, S.A., Hejtmancik, J.F., Khan, S.N., Firasat, S., Shires, M., Gilmour, D.F., Towns, K., Murphy, A., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J., Mackey, D.A., Kalaydjieva, L., Riazuddin, S., Inglehearn, C.F. (2009) Null Mutations in LTBP2 Cause Primary Congenital Glaucoma. AJHG.84 (5): 664-671. 4. Firasat S., Hecker, M., Binder, L., Asif, A.R. (2014) Advances in endothelial shear stress proteomics. Expert.Rev.Proteomics. 11(5):611-9. Professional Experience April 2011 to date Assistant Professor Department of Biosciences, University of Wah, Wah Cantt, Pakistan August 2013 to September 2014 DAAD Post-doctoral Fellow Clinical Proteomics Group, Institute of Clinical Chemistry / UMG-Laboratories, Georg August University, Göttingen, Germany. March 2009 to July 2009 Research Officer National Center of Excellence in Molecular Biology, University of the Punjab, Pakistan Areas of Expertise a. Molecular/Recombinant DNA Techniques: o Isolation/Culture of mammalian cells o PCR/Multiplex PCR/Real Time PCR, Nested PCR o Genotyping o Gel electrophoresis and documentation o Spectrophotometery for biomolecules o Sequencing o Chromatin immunoprecipitation (ChIP) o Mass spectrometry b. Biochemical: o DNA, RNA, Protein Extraction o RFLP o Elisa o Western / Southern blotting c. Microbiological Techniques: o Disinfections and sterilization o Lab safety o Specimen collection and processing o Smear examination o Cultures and isolation of microbes o Biochemical examination etc. Computer Skills o MS Word, MS Excel, MS PowerPoint, and other window packages o Biological software (primer3, BLAT, BLAST, NCBI, DNA STAR, BIOEDIT, USCS human genome browser) etc. o Graphics: Adobe Photoshop v:5.5 o Internet Surfing o Genetic Analyzer Softwares Gene scan® 3.7, Genotyper and Genemapper [for ABI™3100 & 3730 Genetic Analyzer] o Pedigree Softwares Cyrillic 3.1. o Clustal.W o Sequence analysis softwares Chromas & Seqscape etc. Distinctions and Awards 1. Received DAAD Post/Doctoral research award (2013-2014). 2. Received scholarship for PhD studies from HEC indigenous 5000 Fellowship Program (2004-2009). 3. Top Position holder, M.Phil Molecular Biology (2006). Award: Received Gold medal, cash prize and merit certificate from “University of the Punjab”, Lahore. 4. Third Position holder, MSc Zoology (2003). Award: Received merit certificate form “University of the Punjab”, Lahore. Courses/Trainings & Seminars: o Continous professional development workshop on use of SPSS software in quantitative research. (Nov-2014) Department of Sociology, University of Wah, Wah Cantt. o Seminar on “Socio-economic Issues of Third World in the Context of Global Development” (Mar-2012) Department of Sociology, University of Wah, Wah Cantt. o Seminor on “Biotechnology” (June-2012) Department of Biosciences, University of Wah, Wah Cantt. o 1-week training in Bioinformatics: (Oct-2008) Comsats Institute of Information Technology, Islamabad o Bioforum: (Mar-2008) National Centre of Excellence in Molecular Biology (NCEMB) University of the Punjab, Lahore. o B.ED: (2005) 71%, 1ST Division Allama Iqbal Open University, Islamabad th o Pre 18 FAOBMB Symposium Satellite Workshop on bioinformatics: (Nov-2005) National Centre of Excellence in Molecular Biology (NCEMB) University of the Punjab, Lahore. Interests & Extracurricular Activities o Internet Browsing o Reading Novels, Books o National Cadet Corps certificate, Pakistan