CURRICULUM VITAE DR. MUHAMMAD AJMAL Personal Data: Father’s Name: Date and Place of Birth: Nationality: Home Address: Mobile: Email: Chaudhry Muhammad Ashraf 31st Dec 1975, Gujrat, Pakistan Pakistani Ch. M. Hanif Street No. 1, Nai Abadi, Dhoke Gujran, Near Iqbal Masjid, Chakra Road, Rawalpindi +92 300 5347366 chmajmal@gmail.com, muhammad.ajmal@comsats.edu.pk Present Position: Senior Scientific Officer, Department of Bio Sciences, COMSATS Institute of Information Technology, Park Road, Chak Shahzad, Islamabad, Pakistan, since 27th June 2013. Previous Experience: Administrator PCR Laboratories, Shifa College of Medicine, Shifa Tameer-e-Millat University, Sector H-8/4, Islamabad, From 14th February 2005 to 15th August 2013 (8½ Years). Academic Record: Ph.D. (Molecular Genetics), 2013 M.Phil. (Molecular Biology/Biochemistry), 2005 M.Sc. (Biochemistry), B.Ed. (Biology, chemistry), B.Sc. (Botany, Zoology and Chemistry), F.Sc. (Pre-Medical), Matric (Science), 2001 1998 1995 1994 1991 Netherlands Pakistan Pakistan Pakistan Pakistan Pakistan Pakistan PhD Thesis: “Genetic Basis of Inherited Eye Diseases”. Online link to access PhD thesis: (http://repository.ubn.ru.nl/bitstream/2066/106926/1/106926.pdf) M. Phil Thesis: “Genetic Mapping of The Candidates of Hereditary Deafness Genes”. M.Sc. Research Report: “Correlation of Serum Cholesterol and Sugar with Age and Gender”. Conferences and courses attended: Real Time PCR Workshop held on 12th Aug 2005 at Shifa College of Medicine, Islamabad Pakistan, conducted by BioFlux Corporation, Tokyo, Japan. BICMAPE Conference held from 28th Jul 2009 to 29th Jul 2009 at COMSATS Institute of Information Technology, Abbottabad, Pakistan. Eye Genetics Course: (Bologna, Italy) (28th Sep 2011 to 1st Oct 2011). NGS Course: Genomic resequencing: variant detection and interpretation in a diagnostic context (Nijmegen, Netherlands) (4th Apr 2012 to 5th Apr 2012). Dutch Ophthalmology PhD Students (DOPS) conference: (Nijmegen, Netherlands) (13th Apr 2012 to 14th Apr 2012). Technical Expertise Next Generation Sequencing, Polymerase Chain Reaction (PCR), Real-Time PCR, Sanger Sequencing, Diagnostic Virology, Homozygosity Mapping, Disease Gene Identification, Poly Acrylamide Gel Electrophoresis (PAGE), Agarose Gel electrophoresis, RFLP and ARMS techniques, Molecular Cloning, Extraction of Plasmid and Genomic DNA from Prokaryotes, Extraction of Genomic DNA from Eukaryotes etc. Bioinformatic Tools: Easylinkage for linkage studies, VectorNTI and BioEdit for Sanger Sequencing Data Analysis, IGV for Exome Sequencing Data Analysis, Alamut mutation detection software, Online Tools; Homozygosity Mapper, Mutation Taster, Mutalyzer, Primer3, NEB Cutter, NetGene2, UCSC genome browser, Ensembl genome browser, Galaxy project etc. Statistical Data Analysis: SPSS, MS Excel, R packages. Computer Application: MS Office Package, Corel Draw, End Note, Reference Manager, Adobe photoshop etc. Administrative Skills Problem Solving related to the diagnostics and research, handling of critical issues, communication, staff management, organization, job prioritization, information handling etc. Publications: 1. Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar M, Shah STA, Hussain A, Azam M, Kremer H, Qamar R. Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families. (Under revision). 2. Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel C, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RWJ, Qamar R, Cremers FPM. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. J Med Genet 2014; (doi: 10.1136/jmedgenet-2014-102316.). Impact Factor = 5.703 3. Khan MI, Azam M, Ajmal M, Collin RWJ, den Hollander AI, Cremers FPM, Qamar R. The molecular basis of retinal dystrophies in Pakistan. Genes 2014; 176-195. Impact Factor = 0.000 4. Cremers FPM, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R. Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases. Hum Mutat. 2014; 35:147-148. Impact Factor = 5.213 5. Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SHB, Azam M, Collin RWJ, Cremers FPM, Qamar R. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol Vis 2013; 19:644-653. Impact Factor = 1.987 6. Ahmad W, Whittal RA, Riaz M, Putt W, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE. The genetic spectrum of familial hypercholesterolemia in Pakistan. Clinica Chimica Acta 2013; 421:219-225. Impact Factor = 2.850 7. Khan MI, Ajmal M, Micheal S, Azam M, Hussain A, Shehzad A, Venselaar H, Bokhari H, de Wijs IJ, Hoefsloot LH, Gill M, Waheed NK, Collin RWJ, den Hollander AI, Qamar R, Cremers FPM. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. Clin Genet 2013; 84 (3):290-293. Impact Factor = 4.247 8. Ajmal M, Khan MI, Neveling K, Khan YM, Ali SHB, Ahmed W, Iqbal MS, den Hollander AI, Collin RWJ, Qamar R, Cremers FPM. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Mol Vis 2012; 18:15581571. Impact Factor = 1.987 9. Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RWJ, den Hollander AI, Qamar R, Cremers FPM. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early onset retinitis pigmentosa. Mol Vis 2012; 18:1226-1237. Impact Factor = 1.987 10. Ahmed W, Ajmal M, Sadeque A, Whittall RA, Rafiq S, Putt W, Khawaja A, Imtiaz F, Ahmed N, Azam M, Humphries SE, Qamar R. Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients. Mol Biol Rep 2012; 39(7):7365-7372. Impact Factor = 2.506 11. Satti R, Mustafa F, Khan MI, Haq TS, Khan ZU, Zubair M, Rasool STU, Azam M, Ajmal M, Qamar R. Prevalence of Hepatitis C Virus in Urban Ghettos of Twin Cities. Pakistan J Zool 2012; 44(4):937-943. Impact Factor = 0.309 12. Ajmal M, Ahmed W, Akhtar N, Sadeque A, Khalid A, Ali SHB, Ahmed N, Azam M, Qamar R. First report of a nonsense triple nucleotide polymorphism (TNP) in the low density lipoprotein receptor gene in familial hypercholesterolemia. Genet Test Mol Biomarkers 2011; 15(9):601-606. Impact Factor = 1.444 13. Azam M, Collin RWJ, Malik A, Khan MI, Sadeque A, Shah STA, Shah AA, Hussain A, Ajmal M, Arimadyo K, Cremers FPM, Qamar R, den Hollander AI. The genetic basis of retinitis pigmentosa in Pakistan. Archiv Opthalmol 2011; 129(10):1377-1378. Impact Factor = 3.826 14. Ahmed W, Malik M, Khan AA, Saeed I, Sadeque A, Kaleem U, Ajmal M, Azam M, Qamar R. Role of tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) polymorphism in Myocardial Infarction. Mol Biol Rep (2011): 38(4):2541-2548. Impact Factor = 2.506 15. Ajmal M, Ahmed W, Sadeque A, Ali SHB, Bokhari SH, Ahmed N, Qamar R. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia. Mol Biol Rep (2010).37(8): 3869-3875. Impact Factor = 2.506 16. Ayub H, Khan MI, Micheal S, Akhtar F, Ajmal M, Shafique S, Ali SHB, den Hollander AI, Ahmed A, Qamar R. Association of eNOS and HSP70gene polymorphisms with glaucoma in Pakistani cohorts. Mol Vis (2010);16:18-25. Impact Factor = 1.987 17. Azam M, Collin RWJ, Khan MI, Shah STA, Qureshi N, Ajmal M, den Hollander AI, Qamar R, Cremers FPM. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. Mol Vis 2009; 15:1788-1793. Impact Factor = 1.987 Total Impact Factor of 16 research papers = 41.045