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.
Data Resource Profile: Better Outcomes Registry & Network (BORN) Ontario
The Better Outcomes Registry & Network (BORN) Ontario collects pregnancy, birth and newborn information and outcomes data for nearly all births in Ontario, Canada. With nearly complete capture of the approximate 140 000 births each year in Ontario—∼40% of births in Canada—BORN Ontario is the largest perinatal registry in the country.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations
The goal is to provide timely access to those SMA infants in need of therapy to optimize motor function and prolong survival.
Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening
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.
Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency
PYROXIDINE-DEPENDENT epilepsy (PDE, MIM #266100) is a rare autosomal recessively inherited metabolic disease (Gospe 2017) in which intractable and recurrent neonatal or infantile seizures are alleviated uniquely by high doses of pyridoxine (Pyr, vitamin B6) or pyridoxal 5′-phosphate (PLP) (Baxter 2001; Mills et al. 2006; Stockler et al. 2011). When untreated, PDE can lead to death, usually of status epilepticus (Gospe 2017). This condition is caused by mutations in the lysine degradation gene ALDH7A1 (Mills et al. 2006) that encodes α-aminoadipic-semialdehyde-dehydrogenase, which is also known as “Antiquitin” (Lee et al. 1994) due to its remarkable level of conservation through evolution (Supplemental Material, Figure S1). Loss of ALDH7A1 enzyme function leads to the pathogenic accumulation of the lysine intermediates aminoadipate semialdehyde (AASA) and its cyclic equilibrium form piperideine 6-carboxylate (P6C) in tissues including the central nervous system (CNS)  (Figure 1). P6C has been shown to react with and inactivate PLP (the active form of vitamin B6), a cofactor for over 140 enzymes including those involved in neurotransmission (Percudani and Peracchi 2003). It is thus hypothesized that the local or global depletion of PLP results in the Pyr-dependent seizures (Clayton 2006), possibly via disturbance of the PLP-dependent biosynthesis of γ-aminobutyric acid (GABA), the main cerebral inhibitory neurotransmitter. So far, clinical data from cerebrospinal fluid (CSF) measurements of these compounds were inconclusive and the pathophysiology of PDE remains to be fully elucidated.