Children's Medical Research Institute

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Children's Medical Research Institute
MottoHealthier kids, brighter futures
Established1958
Research typeMedical research
Field of research
Genetic research;
Cancer;
Epilepsy;
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
CampusWestmead
NicknameCMRI
Affiliations
Websitecmri.org.au
Founder:
Sir Lorimer Dods

The Children's Medical Research Institute (CMRI) is an Australian-based independent medical research institute that conducts research into the fundamental causes of disease. As of 2014, current research is focused on the causes of cancer, epilepsy and birth defects.[1] CMRI is the organiser of Australia's Jeans for Genes campaign.

The 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".

In 2009, the CMRI joined with the University of Newcastle to establish a Chemical Proteomics Centre for Kinomics (CFK) - a new discipline in Australia. This centre, a world-first, was supported by a $3.1 million grant awarded in 2009 by the Australian Cancer Research Foundation.[3]

Research units[edit]

  • Cancer Research Unit
  • Cell Biology Unit
  • Cell Cycle Unit
  • Cell Signalling Unit
  • Embryology Unit
  • Gene Therapy Research Unit
  • Eye Genetics Unit

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 a cure for genetic liver disease, with clinical trials about to begin
  • 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.[4] 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. https://doi.org/10.1038/s41436-019-0476-3

Future[edit]

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]

References[edit]

  1. ^ "How We're Different". Children's Medical Research Institute. Retrieved 23 June 2014.
  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. ^ "Chemical Proteomics Centre for Kinomics". Australian Cancer Research Foundation.
  4. ^ 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.

External links[edit]