Pranesh Chakraborty

Investigator, CHEO Research Institute

Dr. Chakraborty is a physician certified by the Royal College in Medical Biochemistry and Pediatrics, with a subspecialty in Biochemical Genetics. He joined CHEO in 2003 as a clinician seeing patients with inborn errors of metabolism. In 2006, he led the transition of Ontario’s newborn screening program to Ottawa leading to the establishment of Newborn Screening Ontario (NSO) at CHEO. In 2008, he was instrumental in the founding of the Better Outcomes Registry and Network (BORN Ontario) at CHEO as a prescribed registry in Ontario, and was the Medical Director of BORN until 2017.

At NSO, the research program focuses on developing novel laboratory methods and clinical biomarkers, most recently using metabolomics and genomics, studying policy, and clinical research in newborn screening.

In addition to leading the research program within NSO, Dr. Chakraborty is a Principal Investigator for the Canadian Inherited Metabolic Disease Research Network (CIMDRN), which has received over $2M in CIHR funding since its inception to support rare disease research, in order to improve patient care experiences and outcomes in this population.

Dr. Chakraborty is a Co-Principal Investigator with Dr. Kumanan Wilson and Dr. Steven Hawken at The Ottawa Hospital to assess the feasibility of using newborn heel prick blood samples to estimate gestational age infants in low-resource settings. Families are also able to receive newborn screening for select diseases, similar to what is offered to babies here in Ontario. Overall, this project has received $2.5 million USD from the Bill & Melinda Gates Foundation.

Research Projects

  1. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria

    14/08/2021

    Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.

  2. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations

    16/10/2020

    The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.

  3. Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening

    10/12/2019

    Western blotting revealed a 120 kDa protein band, as well as a weaker 240 kDa band in the proband, the significance of which is unknown at this time.