Dr. Saima Riazuddin is investigating the molecular and genetic basis of hearing loss and deaf-blindness (Usher syndrome), utilizing human and mouse genetics. The studies under investigation are designed to answer the following broad questions: What are the precise mechanisms of various forms of hearing dysfunction? What are the genetic factors that determine hearing sensitivity? How do the pathogenic mutations in disease-causing genes affect the ear and eye structure and function? And which molecules or genetic factors can exacerbate and/or mitigate the effects of disease-causing genes? For these studies, large families segregating inherited deafness are collected. The pedigrees are analyzed by linkage analysis and through various genetic approaches genes essential for hearing process are identified. Mutant mouse models of are developed and evaluated for understanding the function of these genes. Functional analysis of the newly identified genes associated with deafness and deaf-blindness promises new insights into the molecular mechanisms of auditory and vision functions and will facilitate the rational design of therapies for hearing loss and blindness.
Dr. Ahmed long-term goal is to understand how the retinal and inner ear sensory epithelia develop and function. His lab study inherited human disorders of retina and inner ear, like Usher syndrome (USH) and Oculocutaneous Albinism (OCA) to improve our understanding of these organs at the molecular level, to study the pathophysiology of these disorders in animal models for the purpose of developing new strategies to prevent and treat these neurosensory disorders. The studies under investigation are designed to answer the following broad questions: What are the precise mechanisms of various forms of hearing and vision dysfunction? What are the genetic factors that determine light sensitivity? How do the pathogenic mutations in disease-causing genes affect the ear, eye and skin structure and function? And which molecules or genetic factors can exacerbate and/or mitigate the effects of disease-causing genes? For these studies, families segregating inherited USH and OCA are being collected. Mutant mouse and zebrafish models have been developed and his lab evaluates them to understand the function of new proteins. Functional analysis of the newly identified genes associated with deaf-blindness and OCA promises new insights into the molecular mechanisms of vision and auditory development and functions and will facilitate the rational design of potential therapies.
Dr Afsar Mian has expertise in developing novel drugs and peptide therapies as targeted therapies against Leukaemia. His research is focused on understanding the mechanisms of treatment-resistant or refractory Leukaemia. Dr Mian’s research has resulted in the development of the PF-114 drug for treating resistant Leukaemia which is currently in phase III clinical trial. His current research at AKU-CRM is focusing on developing a cell and peptide-based approach for treating Ph+ Leukaemia and developing a druggable gene editing therapy for beta-thalassemia and sickle cell anaemia.
Dr. Khurrum Shahzad’s research interests lie in cardiovascular diseases (CVDs) that affect the heart and blood vessels and are a leading cause of morbidity and mortality worldwide. They encompass a wide range of conditions including atherosclerosis, peripheral arterial disease, myocardial infarction (heart attack), and heart failure. Diabetic patients have a greater risk of developing CVD. Chronic kidney disease (CKD) is associated with a significantly increased risk of developing CVDs. Loss of coagulation regulators (thrombomodulin and activated protein C) have repeatedly demonstrated CVDs and CKD. Thromboinflammation (interplay between the blood coagulation, and inflammatory responses) plays a significant role in the development and progression of various CVDs. His work focuses on understanding the role of coagulation regulator and thromboinflammation in CVDs and CKD induced CVDs. Understanding the underlying mechanisms in CVDs will provide insights into potential therapeutic targets for the prevention and treatment of CVDs.