From gene discovery to therapies for rare disease a research - - PowerPoint PPT Presentation

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From gene discovery to therapies for rare disease a research - - PowerPoint PPT Presentation

Sep 24, 2023 131 likes •267 views

From gene discovery to therapies for rare disease a research perspective A/Prof Carol Wicking Director, IMB Centre for Rare Disease Research, UQ Rare Disease Summit 2015 Melbourne 27-28 March Why rare disease? Why now? Why

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From gene discovery to therapies for rare disease – a research perspective

A/Prof Carol Wicking Director, IMB Centre for Rare Disease Research, UQ Rare Disease Summit 2015 Melbourne 27-28 March

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  • Why rare disease?
  • Why now?
  • Why IMB/UQ/Australia?
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Why rare disease?

  • Importance of rare diseases in their own right
  • Research on rare diseases will impact common diseases
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Gorlin’s syndrome

  • Rare inherited cancer

predisposition syndrome

  • Gene Patched1 – hedgehog

signalling pathway

  • Also responsible for common

sporadic forms of BCC

  • First BCC drug (Erivedge or

vismodegib) approved by the FDA in 2012 FDA Approves Drug for Basal Cell Carcinoma www.cancer.org › Learn About Cancer › News and Features › News

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Temple-Baraitser Syndrome

  • Intellectual disability, epilepsy,

hypoplasia of the nails of the thumb and great toe

  • Originally 7 known cases worldwide,

now 16

  • Potassium channel
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Why now? Cystic fibrosis – 1989 Prior to genome project 5 years from linkage to gene, many groups worldwide

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  • Skeletal ciliopathies
  • Whole exome sequencing trios
  • Weeks-months
  • 5 novel disease genes

since 2013

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Advances in genome editing: CRISPR/Cas9

  • ability to rapidly modify the genome of model organisms and

cells (iPS)

  • Mice – Peter Koopman
  • Zebrafish – Ben Hogan, Kelly Smith
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The zebrafish as a model for human disease

Kelly Smith Ben Hogan

Kaufmann et al., 2012

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IMB Centre for Rare Disease Research

  • Genomics; leukodystrophies – Cas Simons
  • Ciliopathies/skeletal dysplasia - Carol Wicking
  • Congenital heart disease – Kelly Smith
  • Lymphoedema – Ben Hogan, Mathias Francois
  • Disorders of sex development – Peter Koopman (Andrew Sinclair MCRI)
  • Rare brain cancers – Brandon Wainwright
  • Renal disease – Andrew Mallet (RBH), Melissa Little (MCRI)
  • UQ Diamantina Institute – Matt Brown, Emma Duncan
  • MCRI – Melissa Little, Andrew Sinclair
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IMB CRDR and Genetic Health Queensland

  • Julie McGaughran,

Michael Gabbett (GHQ) and Cas Simons (IMB)

  • Sequencing unsolved

dysmorphology cases

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IMB Centre for Rare Disease Research

Sequencing/Gene discovery Known disease gene Novel disease gene Model in zebrafish, mice, cells Therapy development, drug screening platforms