A PhD research scholar at the Institute of Molecular Biology and Human Genetics, Shaheed Zulfiqar Ali Bhutto Medical University in Islamabad has been honoured with the Magdy Yaqoob Gold Medal and the First Prize at a national scientific forum for groundbreaking work in kidney research. The recognition highlights a significant advance in understanding hereditary renal disorders in Pakistan.
The genetic study, carried out in collaboration with Pak Emirates Military Hospital Rawalpindi, the Armed Forces Bone Marrow Transplant Center Rawalpindi and the National University of Medical Sciences, was supervised by Dr Mohsin Shahzad. The research titled “Genetic and Clinical Analysis of Chronic Kidney Disease in the Pakistani Population” combined clinical assessment with advanced genetic analysis to map disease-causing variants in local patients.
The team identified four novel biallelic pathogenic variants in the genes CLDN16, MYO1E, FAM133A and COL4A4. These discoveries expand knowledge of the genetic architecture behind hereditary kidney disease in Pakistan and strengthen the case for targeted genetic screening and family counselling to enable earlier diagnosis and tailored care.
In a separate clinical achievement, the same scholar received Second Prize for a trial titled Mesenchymal Stem Cell Therapy in Diabetic Chronic Kidney Disease. The randomized, double-blind, placebo-controlled study enrolled 91 patients with type 2 diabetes and chronic kidney disease stages II to IV. Results showed stabilization or mild improvement in renal function alongside a significant reduction in HbA1c levels, with no reported adverse events, suggesting the safety and therapeutic potential of stem cell interventions for diabetic kidney disease.
Medical experts say the combined genetic and clinical findings underscore the molecular diversity of renal disorders in Pakistan and point to an expanding role for precision medicine and regenerative therapies in improving diagnosis, treatment and long-term management. The work also reinforces the need for accessible genetic testing and counselling services for at-risk communities.
Shaheed Zulfiqar Ali Bhutto Medical University is concurrently broadening its academic and research footprint by launching new MPhil programmes and deepening collaborations with institutions such as NUMS and PEMH. University officials view these developments as part of a sustained effort to build research capacity, support innovation and deliver evidence-based health solutions that respond to national needs in kidney research and beyond.
