Congratulation CHRI Scientist and Deb Comuzzi Trainee of the Year 2020
CHRI is pleased to announce the following Scientist and Trainee of the Year Award recipients for 2020.
Please join us on June 23 at 12 noon for the Special Awards Seminar as part of the CHRI/Department of Paediatrics Joint Research Rounds.
Congratulations to our award winners:
Children’s Health Foundation CHRI Scientist of the Year Award - Dr. Bekim Sadikovic
Title of Project – Identification of structural signatures in the genome to diagnose childhood diseases
Summary of the Project:
Current genetic testing approaches are limited in diagnosing pediatric patients with developmental delay, intellectual disability, or congenital abnormalities. These mutations cause wide-scale disruptions in the structure that alter gene expression across the genome creating a distinct signature or “episignature”. Dr. Bekim Sadikovic of London Health Science Centre led a team of Canadian and American scientists to develop a computational tool that can diagnose several rare, hereditary childhood disorders based on pediatric patient episignatures. This first-of-a-kind technology allows for the ability to identify novel genetic mutations associated with pediatric diseases and to diagnose patients for whom previous genetic testing has resulted in inconclusive results. This work has resulted in a global first Canadian national clinical trial currently using this technology to assess the health system impact in 4,000 patients, and development of the LHSC-led clinical diagnostic network of labs providing “EpiSign” testing to patients with genetic disorders globally.
Debbie Comuzzi CHRI Trainee of the Year Award – Dr. Ajay Rajaram
Summary of the Project:
A full-term pregnancy is approximately 40 weeks in duration. Infants born within 37 weeks are defined as premature and often experience inadequate brain growth and underdeveloped cerebrovascular structures, resulting in a higher risk of developing a brain injury. A common injury is intraventricular hemorrhaging (IVH), which describes bleeding in and around the ventricles of the brain. Severe cases of IVH can result in improper draining of cerebrospinal fluid (CSF) from the brain’s ventricles causing increased intracranial pressure, compression of brain tissue, and long-term cognitive impairment. In today’s neonatal intensive care unit (NICU), brain monitoring is limited to infrequent imaging using cranial ultrasound. While ultrasound can accurately diagnose bleeding/ventricle enlargement, it cannot continuously monitor and can only depict irreversible damage. My doctoral research explores the use of biomedical optics to monitor potential physiological markers of brain injury before significant damage occurs. NNeMo (Neonatal NeuroMonitor) is an in-house built non-invasive optical device developed to continuously monitor cerebral blood flow (CBF) and metabolism at the bedside. NNeMo demonstrated changes in CBF and metabolism prior to the onset of a brain injury in an animal model. The system was translated to the NICU to monitor premature infants at high risk of IVH during the first few days of life and infants with CSF accumulation during drainage. Real-time monitoring of cerebral perfusion and metabolism has potential to aid in patient management and improve clinical outcome.