Muhammad Zaman Khan Assir is a practicing physician and appointed as an Assistant Professor of Medicine at a leading Medical University in Pakistan. His responsibilities include teaching and mentoring of medical students and residents, patient care, conducting basic and clinical research, working with government bodies and international organizations on development of evidence-based guidelines and policies and capacity building of healthcare professionals.
His research goal is to characterize and elucidate the cellular and molecular pathways implicated in a number of genetic disorders including Autosomal Recessive Intellectual Disability (ARID), Hearing and Vision Impairment. The burden of monogenic autosomal recessive neurodevelopmental disorders is quite high in the Pakistani population owing to high rates of consanguineous marriages in certain regions. This provides a unique opportunity to study pathogenic gene variants causing intellectual disability (ID). Functional studies of these genes would provide important insights into brain development, neurogenesis, neuronal migration, cognition and memory. In a study of 121 large consanguineous Pakistani families with ARID, they identified single gene pathological variants in 30 known and 30 novel candidate genes. This work has not only expanded the existing repertoire of ARID genes, but is bound to provide fundamental insight into the converging molecular mechanisms and transcriptional map of ID.