Download DR. SHAGUFTAKHALIQ (PoP) Dr. Ms. Shagufta Khaliq (Associate

DR. SHAGUFTAKHALIQ (PoP)
Dr. Ms. Shagufta Khaliq (Associate Professor) is presently working at the Dept. Human Genetics and
Molecular Biology, University of Health Sciences, Lahore. She is also working as visiting Professor at
the Centre for Human Genetics and Molecular Medicine, SIUT, Karachi.
Dr. Khaliq started her research career from 1991. Since 1993, she was the first women scientist in
Pakistan to start research on human genetics. Her research was focused on “The genetics of diseasecausing mutations in Pakistani families” and “The Genetics of Pakistani populations in a
global context” and is an authority on the subject. This work required her to perform linkage
analyses, SNP analyses and gene identification by positional and candidate gene approaches
and to set up several molecular biology techniques and tissue culture that were difficult and
demanding. She learned many techniques while working at the institute of Ophthalmology, UCL,
and St. George’s Hospital Medical School, London, UK. Employing those techniques she
identified several novel genes and disease associated mutations in many Pakistani families with
various inherited eye disorders like retinitis pigmentosa, cataract, microphthalmia, PHPV, LCA
etc. and acquired extensive experience of bioinformatic methods. Further she also worked on
genetics and predisposition to breast cancer due to TSG defect and on susceptibility /resistance
to AIDS in the Pakistani ethnic groups.
Among her other important scientific contributions are the discoveries of two novel
disease-causing genes (LCA4 and PHPV) that were identified for the first time in families from
Pakistan. She has made major contributions from Pakistan to medical genetics, particularly in
the field of ophthalmology and was acknowledged in the United States and Europe.
Her mastery of a wide variety of techniques has held her in very good stead over the
past decade, so that she can excel at molecular genetics that include both population and
disease genetics. This breadth is reflected in her diverse publications record, both as first author
and senior author, often in the top international journals of the field. She extensively published
papers, both Independently from Pakistan and with International collaboratores that broad
understanding leads to the distinctive and unusual strength of her research. Within a relatively
short span of her career, having 55 research publications and 4 chapters on her account
demonstartes her scientific ability, drive and ambitions.
For her scientific contributions in disease genetics, the Pakistan Academy of Medical
Sciences awarded her the Junior Scientist Award and Gold Medal in 2001. In recognition of
her valuable services in the field of her specialization, she was conferred the award of Pride of
Performance by the President of the Islamic Republic of Pakistan on March 23, 2001.