1. Please give a summary of your research.
Did you know that 200 years of inbreeding in the Hapsburg dynasty led to its extinction due to genetic disorders  ? Knowing relationship status is important for diagnosing and treating genetic diseases. However, very rarely do people know who their distant 4thcousin is.
I have developed ‘TRIBES’, a software tool that enables the discovery of distant relatives based on their genome. I was inspired to build this tool to help unravel the genetic causes of amyotrophic lateral sclerosis (ALS). ALS is a devastating neurodegenerative disease leading to paralysis and death within 5 years of diagnosis. Around 1 in 5000 Australians over 50 suffer from ALS and with no knowledge of triggers or effective treatment, this disease will grow in prevalence with the aging population. Around 90% of ALS patients have no known relatives affected. However, we have evidence that some of these patients, do have unknown relatives who also suffer from ALS.
Using ‘TRIBES’ along with genome sequence data from 750 Australian ALS patients, I am able to uncover cryptic relationships between patients. My tool is 10 times faster and as accurate as existing gold standard tools. Speed is important for rapid treatment start on this fast progressing disease. In addition to relationship status, ‘TRIBES’ identifies the genomic region which is shared between relatives, substantially narrowing the search space for the genomic origin of ALS.
Novel genetic triggers identified by ‘TRIBES’ will lead to early diagnosis and offer new therapeutic candidates. This will enable earlier clinicalintervention and thus improve life expectancy. My innovative and user-friendly software ‘TRIBES’ can be used in a wide range of applications: From family planning and disease gene detection, to forensic investigations or even to discover who your 4thcousin is.
1. Alvarez G et. al. The role of inbreeding in the extinction of a European royal dynasty.PLoS One. 2009;4(4)
2. Please include any additional details you would like to share
My research focuses on developing computational approaches to unravel the genetic causes of ALS. This is part of a larger collaboration with Macquarie University and Project MinE to fight ALS. Project MinE is an international consortium of 19 countries and over 500 Researchers who together are sequencing genomes from 15,000 ALS patients. Through this collaboration we have published ground-breaking research which identifies novel ALS genes . This collaboration will facilitate many researchers world-wide to use 'TRIBES' software I have developed. Ultimately this will lead to discovery of further novel ALS genes and enable earlier diagnosis and treatment of ALS patients.
1. Nicolas A, Kenna KP, Renton AE, [et. al.including Twine NA.] Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Neuron. 2018 Mar.
Dr Natalie Twine is a postdoctoral fellow in the CSIRO transformational bioinformatics team and a visiting fellow at Macquarie University. Her research focuses on using genomic and 'big data' techn...