Brief Biography

Binita Kamath is a hepatologist in the Division of Gastroenterology, Hepatology and Nutrition and an Associate Scientist in Genetics & Genome Biology at The Hospital for Sick Children (SickKids) in Toronto. 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 and there 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. Kamath joined the SickKids staff in 2009 as a Hepatologist and Clinician Scientist. She plans to establish a Canadian-wide Alagille Syndrome Centre at SickKids. Her clinical interests are in paediatric hepatology and liver transplantation.

Research Interests

• Cholestatic liver disease
• Alagille Syndrome

Kamath’s research has focused on Alagille syndrome. This is an inherited multisystem condition that affects the liver, heart, face, eyes and skeleton. In many cases the blood vessels and kidneys may also be affected. It is caused by mutations or changes in a gene known as JAGGED1. There is tremendous variability in the extent to which different organ systems are affected in any individual, even between family-members sharing the same mutation in JAGGED1. Kamath’s work has sought to understand the great variability in this condition and to fully understand the extent to which the organs are affected. She is collaborating with Dr. Spinner in Philadelphia to identify other genes that may be involved in determining how severely the liver is affected in an individual with a JAGGED1 mutation. This is an international study that has been designed to collect genetic and clinical information on approximately 700 patients, the largest group of Alagille syndrome patients ever collected, and to perform a Genome-Wide Association Study.

Kamath is particularly interested in the blood vessel involvement in Alagille syndrome and the high prevalence of stroke and other significant vascular events. She is working on a multi-center study to perform head scans using magnetic resonance imaging (MRI) to identify and follow blood vessel abnormalities in children with Alagille syndrome. This will enable hepatologists and neurologists to better understand the prevalence of blood vessel changes and to plan appropriate screening and therapies.

Kamath is a member of the CHiLDREN consortium which is a NIH-funded group of the premier hepatology centres in North America that have come together to study eight paediatric liver disorders, including Alagille syndrome. Kamath has been an active participant of the Steering Committee of this consortium and will continue this work in Toronto as SickKids has recently been accepted into this consortium and is the only Canadian centre involved.

Publications

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. 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.
Hum Mutat. 2009 Mar;30(3):371-8.

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Hum Mutat. 2006 May;27(5):436-43.

Intracranial vascular abnormalities in patients with Alagille syndrome. Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):99-107.

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID.
Circulation. 2004 Mar 23;109(11):1354-8. Epub 2004 Mar 1. Review.

Consequences of JAG1 mutations. Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.
J Med Genet. 2003 Dec;40(12):891-5.

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA. Am J Med Genet. 2002 Oct 1;112(2):194-7.

Craniosynostosis in Alagille syndrome. Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Am J Med Genet. 2002 Oct 1;112(2):176-80.

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. Kamath BM, Loomes KM, Oakey RJ, Krantz ID. Am J Med Genet. 2002 Oct 1;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. Am J Med Genet. 2002 Oct 1;112(2):163-70.