Genetic Screening Lab team photo at CEMB

Research at CEMB

Genetic Screening

The lab explores the genetic and epigenetic basis of complex diseases prevalent in Pakistan — asthma, lung cancer, COPD and congenital hypogonadotropic hypogonadism — to help personalise patient treatment.

Laboratory overview

From biological discovery to practical solutions.

Research links genetic profiles to treatment response for complex, common diseases, and is developing cost-effective third-generation sequencing facilities to bring precision genomics to more researchers and clinicians.

Medical & precision genomicsComplex disease geneticsThird-generation sequencing

Inside the laboratory

Genetic screening
in motion.

Third-generation sequencing 01
MinION third-generation nanopore sequencing device connected to a tablet and control unit
Cost-effective third-generation (nanopore) sequencing facility under development.
Genetic screening workflow 02
Genetic screening workflow showing GeneMapper allele analysis, an optimised STR multiplex gel and an LD block haplotype view
From allele analysis and multiplex optimisation to linkage-disequilibrium mapping.

Research programme

What the lab works on

The programme spans discovery, laboratory validation and the development of tools and formulations for real-world use.

  1. 01

    Complex disease genetics

    Genetic and epigenetic association studies of asthma, lung cancer, COPD and congenital hypogonadotropic hypogonadism.

  2. 02

    Precision genomics for treatment

    Linking patient genetic profiles to treatment plans to improve outcomes and reduce adverse reactions.

  3. 03

    Sequencing facility development

    Developing cost-effective protocols for third-generation sequencing for researchers and clinicians.

Funding

Research grants

Ongoing

  • Ongoing
    Cost-effective BRCA1/2 screening for early cancer detectionApproved by HEC-Pakistan Academy of Sciences, 2026 · Rs 8.63 million
  • Ongoing
    Genetic basis of congenital pituitary disorders in Pakistan: PROP1 variants and population riskPunjab University · 2025–2026 · Rs 0.3 million
  • Ongoing
    Genotypic categorisation of COPD patients by Vitamin D receptor SNP variantsHEC NRPU, Ref. 20-15440/NRPU/R&D/HEC/2021-2020 · Rs 7.8 million
  • Ongoing
    Genetic variants associated with Congenital Hypogonadotropic Hypogonadism in the Pakistani populationSwiss National Science Foundation collaboration

Completed

  • Completed
    Association of candidate SNPs on chromosome 14 with inherited emphysema in the local populationHEC NRPU-8460 · Rs 1.87 million

Achievements

Notable outcomes

  • Collaborating partner in a Swiss National Science Foundation project on genetic variants linked to Congenital Hypogonadotrophic Hypogonadism in the Pakistani population
  • Genotypic categorisation of patients who respond better to Vitamin D supplements for suppressing COPD symptoms, with Fatima Memorial Hospital Lahore
  • Identified genetic variants predisposing the local population to asthma, COPD and lung cancer, published in the Journal of Asthma, Clinical Respiratory Journal and CHEST
  • 18 students have completed their MPhil from this lab, with 3 PhD and 2 MPhil students currently enrolled

Research group

Meet the team

Contact the Director, group lead or a co-investigator directly, or reach a doctoral researcher by email.

Doctoral researchers

  • Asad Shah
  • Ali RazaDoctoral Researcher
  • Aroosa IjazDoctoral Researcher
  • Sahar YousafMPhil Student
  • Hadeena MusarratMPhil Student
  • Amna SadafMPhil Student
  • SumairaMPhil Student

Connect with CEMB

Need more information?

Contact the right team