Children's Medical Research Institute

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Children's Medical Research Institute
MottoFinding Cures for Children's Genetic Diseases
Research typeMedical research
Field of research
Genetic research;
Birth defects
DirectorProfessor Roger Reddel AO FAA
Address214 Hawkesbury Road, Westmead NSW 2145
LocationSydney, New South Wales, Australia
33°48′05″S 150°59′32″E / 33.80139°S 150.99222°E / -33.80139; 150.99222Coordinates: 33°48′05″S 150°59′32″E / 33.80139°S 150.99222°E / -33.80139; 150.99222
Sir Lorimer Dods

Children's Medical Research Institute (CMRI) is an Australian-based independent medical research institute located in Westmead, Sydney NSW that conducts research into children's genetic diseases. As of 2019, current research is focused on cancer, birth defects, neurological conditions such as epilepsy, and gene therapy to treat genetic diseases.[1] CMRI created and continues to operate Australia's Jeans for Genes fundraising campaign.

CMRI was founded in 1958 by paediatricians Sir Lorimer Dods, Dr John Fulton and Douglas Burrows, honorary treasurer and later president of the Royal Alexandra Hospital for Children,[2] to "perform scientific research with a commitment to better treat, and where possible, prevent childhood illness and disability so that all concerned have a better quality of life".

Much of CMRI's cancer research focuses on telomeres (including telomerase) and the Alternative Lengthening of Telomeres (ALT) mechanism, which was discovered at CMRI in 1997[3]. In 2016, CMRI launched an international project to develop a big data approach to personalised, precision medicine called ProCan. Seed funding of $10 million was obtained for ProCan from the Australian Cancer Research Foundation (ACRF), and has since been funded by the Australian Government, NSW State Government and other organisations. The project is now part of the US Cancer Moonshot through ICPC and the European iPC project.

Research Laboratories[edit]

  • Cancer Research Unit, Headed by Professor Roger Reddel
  • Cell Biology Unit, Headed by A/Prof Tracy Bryan
  • Cell Signalling Unit, Headed by Prof Phil Robinson
  • Computational Systems Biology Group, Led by Dr Pengyi Yang
  • Embryology Unit, Headed by Prof Patrick Tam
  • Gene Therapy Research Unit, Headed by Prof Ian Alexander
  • Genome Integrity Unit, Headed by Dr Tony Cesare
  • Eye Genetics Unit, Headed by Prof Robyn Jamieson
  • ProCan
  • Stem Cell Medicine Group, Led by Dr Anai Gonzalez-Cordero
  • Synapse proteomics Group, Led by Dr Mark Graham
  • Telomere Length Regulation Unit, Headed by A/Prof Hilda Pickett
  • Translational Vectorology Group, Led by Dr Leszek Lisowski

Major achievements[edit]

In 1995 researcher and current director of CMRI, Roger Reddel and his team discovered ALT (Alternative lengthening of telomeres),[citation needed] a method by which approximately 15% of human cancer cells achieve ‘immortality’ and keep dividing. This work is being pursued with a focus on understanding ALT and developing potential anti-cancer treatments and diagnostic tools.

Other achievements include:[citation needed]

  • Found a single genetic defect can cause cleft lip and palate
  • Fate map of the early embryo to help us understand many developmental problems
  • Identification of the components of telomerase, which will be important for treating 85% of all cancers
  • Discovery of the Alternative Lengthening of Telomeres (ALT) mechanism, which will lead to treatments for the other 15% of cancers
  • Developing a blood test for ALT cancers that will allow physicians to diagnose and plan treatments for cancers such as aggressive glioblastoma brain tumours
  • Partnering with The Children’s Hospital at Westmead on the first ever clinical trial for an inherited disease in Australia (SCIDX1-deficiency)[4]
  • Discovering and developing a new class of drugs for treating epilepsy
  • Identified novel eye development and retinal disorder genes

In March 2007, Scott Cohen and his team made a significant discovery in telomerase research by establishing that the enzyme consists of two molecules each of telomerase reverse transcriptase, telomerase RNA, and dyskerin.[5] In March 2019 Prof Robyn Jamieson lead an international group which identified a novel retinal disorder gene ALPK1 Williams, L.B., etal. (2019). "ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder." Genetics in Medicine.


As of 2014 the future direction of CMRI was focused on the development of epilepsy treatments that will help children (and adults) around the world; the development of new treatments for kidney disease and diabetes; gene therapy cures for rare genetic diseases in children; new treatments for infectious diseases; telomere research to help understand predisposition to disease; and to find new and better treatments for every type of cancer.

See also[edit]


  1. ^ "About Us". Children's Medical Research Institute.
  2. ^ Yu, John. "Dods, Sir Lorimer Fenton (1900–1981)". Australian Dictionary of Biography. National Centre of Biography. The Australian National University. Retrieved 11 August 2012.
  3. ^ Bryan, Tracy M.; Englezou, Anna; Dalla-Pozza, Luciano; Dunham, Melissa A.; Reddel, Roger R. (1997). "Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines". Nature Medicine. 3 (11): 1271–1274. doi:10.1038/nm1197-1271. ISSN 1078-8956. PMID 9359704.
  4. ^ Ginn, Samantha L; Curtin, Julie A; Smyth, Christine M; Latham, Margot; Cunningham, Sharon C; Zheng, Maolin; Hobson, Linda; Rowe, Peter B; Alexander, Ian E; Kramer, Belinda; Wong, Melanie (2005). "Treatment of an infant with X‐linked severe combined immunodeficiency (SCID‐X1) by gene therapy in Australia". Medical Journal of Australia. 182 (9): 458–463. doi:10.5694/j.1326-5377.2005.tb06785.x. ISSN 0025-729X. S2CID 14337188.
  5. ^ Cohen, Scott B.; Graham, Mark E.; Lovrecz, George O.; Bache, Nicolai; Robinson, Phillip J.; Reddel, Roger R. (30 March 2007). "Protein Composition of Catalytically Active Human Telomerase from Immortal Cells" (Abstract). Science. 315 (5820): 1850–1853. doi:10.1126/science.1138596. PMID 17395830. Retrieved 10 January 2015.

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