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First published Wednesday 25 May 2016.

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Please direct general enquiries to our reception on (08) 6319 1000.

Please direct media enquiries to our media team:

Tamara Hunter
Senior Communications Officer
Phone: 08 6319 1644 (office) or 0459 859 126 (mobile)
Email: Tamara Hunter

Tammy Gibbs 
Communications Manager 
Phone: +61 8 6319 1645 (office) 0408 946 698 (mobile)
Email: Tammy Gibbs

  • Occurs in 1 in 9000 baby girls.
  • Around 15 babies born a year across Australia.
  • One a year, on average, born in WA.
  • In WA, about 30 families now affected.
  • More than 400 people on national database.
  • Over 2000 people on international database.
  • Institute now working with 200 families in China.
  • About 1000 babies born in China every year.
  • Working in China on an intervention project that looks at whether an early enriched environment can limit disability and aid brain development by impacting on levels of BDNF proteins.
  • Raising awareness among clinicians about the presentation of Rett syndrome MECP2 abnormalities in baby boys.
  • Collecting information on individuals with a mutation in the CDKL5 gene which may have some clinical features similar to Rett syndrome.

Marlee's story