Shailly Jain Ghai
Associate Professor (Special Continuing)
8-53 Medical Sciences Building
Phone: 780.407.7333
Fax: 780.407.6845
Email: Shailly.Jain@albertahealthservices.ca and jainghai@ualberta.ca
Dr. Shailly Jain completed medical school at the University of Western Ontario and the Royal College residency in Medical Genetics at the University of Toronto. She did a Canadian College of Medical Genetics fellowship in clinical biochemical genetics (metabolics) at the University of Toronto. She is currently an associate professor at the University of Alberta and her primary area of clinical expertise is diagnosing and treating children and adults with inherited metabolic diseases. Her interests include newborn screening, lysosomal storage disorders and liver transplant for inherited metabolic diseases. She is also the Chair of the CCMG training program at the University of Alberta and the program director for the CCMG Biochemical Genetics fellowship.
Dr. Jain's main focus of research is clinical with interest in liver transplantation in inborn errors of metabolism and newborn screening for inborn errors of metabolism. She is local PI for Canadian Inherited Metabolic Diseases Research Network (CIMDRN) and has been sub-investigator in Fabry Disease clinical trials.
Co-Principal Investigator for multiple clinical trials including:
- mRNA based therapy for Methylmalonic acidemia and Propionic acidemia
- Intrathecal enzyme replacement therapy for metachromatic leukodystrophy
- Efficacy and Safety of DNL310 vs Idursulfase in MPS II
Selected Publications (Last 5 years)
- Benson M, MacDonald IM, Sheehan M, Jain S. Improved electroretinographic responses following dietary intervention in a patient with Refsum disease. JIMD Reports 2020: 1-6. DOI: 10.1002/jmd2.12147
- Guilder L, Prada C, Saenz S, Jain-Ghai S, Karp N, Mazariegos G, Ratko S, Slavarinova R, Mercimek-Andrews S. Hyperleucinosis during infections in maple syrup urine disease post liver transplantation. MGM Reports 27 (2021). DOI: 10.1016/j.ymgmr.2021.100763
- Marissa L. Ledger, Milja Kaare, Janette A. Mailo, Shailly Jain-Ghai. Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7. European Journal of Medical Genetics, Volume 66, Issue 1, 2023, https://doi.org/10.1016/j.ejmg.2022.104657.
- Valerie Lai, Mariam Shahidi, Alicia Chan and Shailly Jain-Ghai (2023). First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3- methylglutaryl coenzyme A lyase deficiency. Endocrinology, Diabetes and Metabolism Case Reports, 1. 10.1530/EDM-22-0413
- Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek-Andrews (2023). Diagnostic yield of clinical exome sequencing in adulthood in medical genetic clinics. American Journal of Medical Genetics, Part A, 2. 510-517, 10.1002/ajmg.a.63053
- Ambrose, A; Sheehan M; Bahl, S; Athey, T; Ghai-Jain, Shailly; Chan, Alicia; Mercimek-Andrews, Saadet (2022). Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic. Orphanet Journal of Rare Diseases, 17 (1): 360. 10.1186/s13023-022-02512-5
- Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews (2024). Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta. Molecular Genetics and Metabolism Reports, 38. doi.org/10.1016/j.ymgmr.2024.101055
- Anastasia Ambrose, Shalini Bahl, Saloni Sharma, Dan Zhang, Clara Hung, Shailly Jain‑Ghai, Alicia Chan and Saadet Mercimek‑Andrews (2024). Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. Orphanet Journal of Rare Diseases, 19:4242. 10.1186/s13023-024-03437-x