<b>Dr Ryan Taft</b><br>
Group Leader, Genomics of Development and Disease Division<br><p>
P: +61 7 3346 2080<br>
E: r.taft@imb.uq.edu.au<p>
<b>Keywords</b><br>
- rare childhood diseases<br>
- leukodystrophies<br>
- Prader-Willi syndrome<br>
- personalised medicine<br>
- high-throughput genomics
Dr Ryan Taft
Group Leader, Genomics of Development and Disease Division

P: +61 7 3346 2080
E: r.taft@imb.uq.edu.au

Keywords
- rare childhood diseases
- leukodystrophies
- Prader-Willi syndrome
- personalised medicine
- high-throughput genomics

Rare childhood diseases

Our research seeks to answer pressing biological and medical questions using our cutting-edge knowledge of the genome and how it operates. For example, our work helps to directly identify and diagnose patients with rare genetic diseases, which currently affect more than 1.5 million Australians, with at least 400,000 of these patients under the age of 15. This research is also assisting with the development of tailored therapeutics and treatments for children diagnosed with rare diseases, including leukodystrophies and Prader-Willi syndrome.

During the past two years, we have dramatically expanded our work in personalised medicine, and have now sequenced more than 100 families in the quest to discover the genetic causes behind rare disease mutations. Our successes include the cases of a four-year-old boy with a central nervous system disease that we solved by identifying a disease new to medicine; the discovery of the genetic mutation responsible for a disease called H-ABC, which affects brain development in childhood; and the resolution of more than 10 additional clinical cases that were thought to be unsolvable.

In parallel with this research, we are actively rethinking how the genome operates by studying the long-ignored 98 per cent of our DNA that isn’t genes, which has sometimes been referred to as ‘junk’ DNA. Using state-of-the-art bioinformatics and laboratory approaches, we are able to study this biological dark matter and the vast amounts of RNA it produces. Our work has resulted in a number of important findings, including the fact that genes often code ‘secret’ layers of RNA information, which act to fine tune the human genetic machine. 

Make a difference to Dr Taft's research by donating today.

Research in the newsDr Ryan Taft on Australian Story

22 October 2013 - Geneticists hail father who uncovered son's rare disease, ABC News

21 October 2013 - Cracking the code, Australian Story

20 July 2013 - Decoding Massimo Damiani's rare genetic disease, The Weekend Australian Magazine

3 May 2013 - Medical discovery like finding needle in haystack, The Courier-Mail

17 September 2012 - UQ Foundation Research Excellence Awards: Dr Ryan Taft profile, UQ Research Week

29 August 2010 - Eureka Prizes People's Choice Award Finalists: Park 2 - Dr Ryan Taft, Catalyst

View publications by Dr Taft via PubMed.

Group contacts

Dr Greg Baillie
Research staff
+61 7 334 62075
g.baillie@imb.uq.edu.au
Mr Jason da Silva
Research higher degree student
+61 7 334 62079
jason.dasilva@uqconnect.edu.au
Dr Cas Simons
Research staff
+61 7 334 62075
c.simons@imb.uq.edu.au
Mr Andrew Calcino
Research higher degree student
+61 7 334 62352
+61 7 334 62356
a.calcino@uq.edu.au
Dr Christine Ender
Research staff
+61 7 334 62075
+61 7 334 62352
c.ender@imb.uq.edu.au
Dr Ryan Taft
Group leader
+61 7 334 62080
r.taft@imb.uq.edu.au
Ms Anupma Choudhary
Research higher degree student
+61 7 334 62352
+61 7 334 62356
a.choudhary@imb.uq.edu.au

Mr Hyun Lee
Research higher degree student
+61 7 334 62352
hyun.lee@imb.uq.edu.au

Ms Darya Vanichkina
Research higher degree student
+61 7 334 62352
+61 7 334 62356
d.vanichkina@imb.uq.edu.au 
Dr Michael Clark
Research visitor
+61 7 334 62352
m.clark3@uq.edu.au
Mr Ganquiang Liu
Research higher degree student
+61 7 334 62075
+61 7 334 62356
g.liu@imb.uq.edu.au
 
Dr Joanna Crawford
Research staff
+61 7 334 62075
+61 7 334 62352
j.crawford@imb.uq.edu.au
Mrs Ke-Lin Ru
Research staff
+61 7 334 62352
+61 7 334 62356
k.ru@imb.uq.edu.au
 

 

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