Binita Kamath, MD, MBBChir, MRCP
The Hospital for Sick Children
Gastroenterology, Hepatology and Nutrition
Developmental & Stem Cell Biology
University of Toronto
Dr. Binita Kamath is a hepatologist in the Division of Gastroenterology, Hepatology and Nutrition and an Associate Scientist in Developmental & Stem Cell Biology at The Hospital for Sick Children (SickKids) in Toronto. Dr. Kamath was educated at Gonville and Caius College of Cambridge University in the UK and completed her medical training at the Cambridge University School of Clinical Medicine in 1995. She did her paediatric residency training between several London hospitals including the world-renowned Liver Institute at Kings College Hospital. She moved to the Children’s Hospital of Philadelphia in 2000 to further her specialist training where she completed her Fellowship in Pediatric Gastroenterology and Hepatology. She joined the faculty at the Children’s Hospital of Philadelphia in 2006. During her time in Philadelphia, Dr. Kamath developed a strong research interest in cholestatic liver disease and specifically focused on Alagille Syndrome. She worked closely with Dr. Spinner and Dr. Piccoli who had identified the disease gene for Alagille syndrome. Dr. Kamath joined the SickKids staff in 2009 as a Hepatologist and Clinician Investigator. She plans to establish a Canadian-wide Alagille Syndrome Centre at SickKids. Her clinical interests are in paediatric hepatology and liver transplantation.
- Cholestatic liver disease
- Alagille Syndrome
Dr. Kamath’s research focuses on inherited biliary disorders. Although these diseases are rare, her research is fundamental to understanding biliary disease mechanisms that has generalizability to other more common and complex bile duct diseases. Her research approach is translational encompassing patient-based studies and collaborations with basic scientist colleagues. Her primary interest is Alagille syndrome, a multi-system disease with cholestasis associated with bile duct paucity – her goals are to understand the phenotypic manifestations, genotype-phenotype relationships and natural history of Alagille syndrome. Recently she has established a collaboration with Dr. Gordon Keller and Dr. Anand Ghanekar to develop a highly innovative protocol to differentiate cholangiocytes from induced pluripotent stem cells (iPSCs). The goal is to derive patient-derived cholangiocytes, which can be used to study disease mechanisms of developmental biliary disorders, for understanding complex biliary diseases and in the future for drug screening. They have generated exciting preliminary data with iPSC-derived wild-type biliary epithelial cells, which share many of the structural and functional characteristics of mature cholangiocytes. They are currently applying this differentiation protocol from iPSCs derived from patients with cystic fibrosis and Alagille syndrome.
Dr. Kamath’s second focus is a novel area of study to assess the concept of frailty in children awaiting liver transplantation. Frailty is a validated measure of debilitation in the elderly, which is correlated with significant morbidity and mortality. Adult data reveal that frailty measures elements of morbidity in patients awaiting a liver transplantation that are not captured in laboratory evaluations or current organ allocation scoring systems. She has completed a pilot feasibility project to assess frailty in children and have now extended this study to a multi-site collaboration of 13 North American transplant centres, with SickKids as the lead site.
For a complete list of publications, please see PubMed
Renal involvement and the role of Notch signalling in Alagille syndrome. (2013) Kamath BM, Spinner NB, Rosenblum ND. Nature Reviews: Nephrology. 9(7):409-18.
NOTCH2 mutations in Alagille syndrome. (2012) Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB.
Journal of Medical Genetics. 49(2):138-44.
Renal anomalies in Alagille syndrome: a disease-defining feature. (2012) Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. American Journal of Medical Genetics. Part A. 158A(1):85-9.
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. (2009) Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB. Human Mutation. 3:371-8.
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. (2006) Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Human Mutation. 27(5):436-43.
Intracranial vascular abnormalities in patients with Alagille syndrome. (2005) Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. Journal of Pediatric Gastroenterology & Nutrition. 41(1):99-107.
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. (2004) Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID. Circulation. 109(11):1354-8.
Consequences of JAG1 mutations. (2003) Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Journal of Medical Genetics. 40(12):891-5.
Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. (2002) Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA. American Journal of Medical Genetics. 112(2):194-7.
Craniosynostosis in Alagille syndrome. (2002) Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. American Journal of Medical Genetics. 112(2):176-80.
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. (2002) Kamath BM, Loomes KM, Oakey RJ, Krantz ID. American Journal of Medical Genetics. 112(2):171-5.
Facial features in Alagille syndrome: specific or cholestasis facies? Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. American Journal of Medical Genetics. 112(2):163-70.