Genetic Screening Lab

GENETIC SCREENING LAB

Description

  • Research program of the Genetic Screening Lab focuses on exploring genetic and epigenetic aspects of complex diseases that are highly prevalent in our local population.
  • The projects in the lab are aimed to provide medical practitioners with insights into the genetic profiles of their patients thus helping them in opting for treatment plans to the individual patient, potentially leading to better outcomes and fewer adverse reactions.
  • Current research endeavors are focused on the genetic association of various human diseases, including asthma, lung cancer, chronic obstructive pulmonary disease and congenital hypogonadotropic hypogonadism.
  • The lab is currently working on developing cost-effective protocols to provide third-generation sequencing facility to the researchers as well as to the clinicians.

Key Areas

Medical Genetics, Precision Genomics, Genetic and Epigenetic aspects of Complex diseases; Sequencing Facility

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List of Research Projects

      • “Genotypic categorization of Chronic obstructive lung disease patients on basis of associated Vitamin D Receptor’s Single nucleotide polymorphic variants: A possible breakthrough to decide efficacy of supplementary therapy” (Ongoing project; Ref No. 20-15440/NRPU/R&D/HEC/2021-2020; 7.8 Million PKR)
      • Study of association of potential candidate SNPs residing on chromosome 14 with inherited Emphysema in local population (Completed project; HEC NRPU-8460; 1.87Million PKR)
      • Collaborating Partner in ongoing Project by Swiss National Science Foundation “Genetic variants associated with Congenital Hypogonadotropic Hypogonadism in Pakistani population” (https://data.snf.ch/grants/grant/202612); SNSF Data Portal (snf.ch)
      • Identification of potential single nucleotide polymorphic variants of EGFR in Non-small cell lung carcinoma patients of local ethnicities (0.2 Million PKR; Approved by University of the Punjab)
      • VDR and VDB gene expression studies in COPD and Asthma patients of Lahore, Pakistan ( 0.2 Million PKR; Approved by University of the Punjab)

Achievements

    • Genetic Screening Lab has become collaborating partner in a Swiss Science Foundation Project “Genetic variants associated with Congenital Hypogonadotrophic Hypogonadism in Pakistani population”
    • Genotypic categorization of patients that respond better to Vitamin D supplements for suppressing Chronic Obstructive Pulmonary Disease symptoms, has been achieved in collaboration with Pulmonology department of Fatima Memorial Hospital Lahore.
    • Many genetic variations that predispose our local population to complex disease like Asthma, Chronic Obstructive Pulmonary Disease and Lung cancer. Results have been published in well reputed journals like Journal of Asthma, Clinical Respiratory Journal, CHEST etc
    • 18 students have completed their M.Phil from this lab whereas 3 Ph.D and 2 M.Phil are currently enrolled.

Academic and Research Linkages Established

  • Department of pediatric Endocrinology, University Hospital, Lausanne, Switzerland
  • Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland
  • Pulmonology Department, Fatima Memorial Hospital, Lahore
  • Pulmonology department, Children Hospital, Lahore
  • Department of Pediatric Endocrinology & Diabetes, University of Child Health Sciences, Lahore

Group picture

Group Composition

Dr. Mariam Shahid              mariam.shahid@cemb.edu.pk
Dr. Samra Kousar              samra.kousar@cemb.edu.pk
Mr. Asad Shah                     asadshah.pu@gmail.com

Doctorate Students:
Samra Kousar                    kousarsamra1983@gmail.com
Ali Raza                             ali.bs.ibb@pu.edu.pk
Aroosa Ijaz                        aroosa.ijaz@cemb.edu.pk

M.Phil Students:
Ms Sahar Yousaf               saharyousaf131@gmail.com
Ms Hadeena Musarrat       hadina.anwar6262@gmail.com
Ms. Amna Sadaf                amnasadaf4401@gmail.com
Ms. Sumaira                      sumairaatta8@gmail.com