Cas Simons
@cassimons.bsky.social
Rare disease program lead, Centre for Population Genomics.
🇦🇺🇳🇿
🇦🇺🇳🇿
We are looking for a new Rare Disease Program Manager.
Are you looking for a hybrid role working with a team of scientists, clinicians, and engineers who are passionate about improving the lives of families living with rare diseases?
Reach out to hear more.
www.seek.com.au/job/85773801
Are you looking for a hybrid role working with a team of scientists, clinicians, and engineers who are passionate about improving the lives of families living with rare diseases?
Reach out to hear more.
www.seek.com.au/job/85773801
Senior Project Manager Job in Parkville, Melbourne VIC - SEEK
We're seeking a driven Senior Project Manager to lead the coordination and delivery of our Rare Disease (RD) Program
www.seek.com.au
July 16, 2025 at 5:22 AM
We are looking for a new Rare Disease Program Manager.
Are you looking for a hybrid role working with a team of scientists, clinicians, and engineers who are passionate about improving the lives of families living with rare diseases?
Reach out to hear more.
www.seek.com.au/job/85773801
Are you looking for a hybrid role working with a team of scientists, clinicians, and engineers who are passionate about improving the lives of families living with rare diseases?
Reach out to hear more.
www.seek.com.au/job/85773801
Reposted by Cas Simons
Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!
@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!
Pre-print now out: www.medrxiv.org/content/10.1...
Talos is #portable #opensource: github.com/populationge...
May 28, 2025 at 7:37 AM
Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!
Reposted by Cas Simons
Thank you Danielle for your fight; your heartache will bring change.
www.smh.com.au/national/nsw...
🙏 sign the petition to change the coronial process - to include genetic testing in the event of an unexplained death of an infant or young person.
surl.li/qeisra
#raredisease #PPA2 #infantloss
www.smh.com.au/national/nsw...
🙏 sign the petition to change the coronial process - to include genetic testing in the event of an unexplained death of an infant or young person.
surl.li/qeisra
#raredisease #PPA2 #infantloss
A coroner couldn’t tell Danielle how her son died. Then she lost her daughter
After losing her two babies, Danielle Green wants genetic testing introduced in the post-mortem investigations of young people.
www.smh.com.au
May 18, 2025 at 5:54 AM
Thank you Danielle for your fight; your heartache will bring change.
www.smh.com.au/national/nsw...
🙏 sign the petition to change the coronial process - to include genetic testing in the event of an unexplained death of an infant or young person.
surl.li/qeisra
#raredisease #PPA2 #infantloss
www.smh.com.au/national/nsw...
🙏 sign the petition to change the coronial process - to include genetic testing in the event of an unexplained death of an infant or young person.
surl.li/qeisra
#raredisease #PPA2 #infantloss
Reposted by Cas Simons
When investors learn that the trait for green eyes is also ~20 SNPs
April 14, 2025 at 12:45 AM
When investors learn that the trait for green eyes is also ~20 SNPs
Are you an experienced Bioinformatician looking to make a real-world impact for families living with rare disease? Love team science and working at scale? Remote-first (NSW, VIC or QLD).
Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program:
career10.successfactors.com/career?caree...
Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program:
career10.successfactors.com/career?caree...
Career Opportunities: Rare Disease Bioinformatician (42637)
career10.successfactors.com
April 11, 2025 at 1:06 AM
Are you an experienced Bioinformatician looking to make a real-world impact for families living with rare disease? Love team science and working at scale? Remote-first (NSW, VIC or QLD).
Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program:
career10.successfactors.com/career?caree...
Join me, @dgmacarthur.bsky.social, and the CPG Rare Disease Program:
career10.successfactors.com/career?caree...
Reposted by Cas Simons
Our perspective on the role of genetic counselling in the Aus healthcare setting is now out! Very excited to see this out in the wild! Well done to @tatyanes.bsky.social for leading this and keeping us all in line 💥 @mja.com.au #genechat #medsky #genesky
Read our new perspective piece published in @mja.com.au. We explore the role of GCs in genomic medicine and current professional challenges. What started as passionate conference discussions has turned into a great perspective piece!
To read the paper: onlinelibrary.wiley.com/doi/10.5694/...
To read the paper: onlinelibrary.wiley.com/doi/10.5694/...
January 7, 2025 at 1:37 AM
Our perspective on the role of genetic counselling in the Aus healthcare setting is now out! Very excited to see this out in the wild! Well done to @tatyanes.bsky.social for leading this and keeping us all in line 💥 @mja.com.au #genechat #medsky #genesky
Reposted by Cas Simons
Thanks for including us Ben and all. If anyone has an ataxia patient with a EP400 polyQ expansion we'd love to hear from you. #repeatome #raredisease #ataxia
It was great to be able to contribute the EP400 finding to this preprint. Together with @ginaravenscroft.bsky.social and @cfolland.bsky.social we flagged a novel CAG repeat locus in the EP400 gene as a likely (though extremely rare) cause of spinocerebellar ataxia when expanded to ≥55 repeats. [1/N]
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity https://www.biorxiv.org/content/10.1101/2025.01.06.631535v1
January 10, 2025 at 3:22 AM
Thanks for including us Ben and all. If anyone has an ataxia patient with a EP400 polyQ expansion we'd love to hear from you. #repeatome #raredisease #ataxia
Reposted by Cas Simons
We report 35 patients with biallelic RBL2 loss-of-function variants presenting with developmental delay/intellectual disability, hypotonia, seizures, microcephaly & brain abnormalities. Drosophila models recapitulate key features & suggest RBL2 re-expression may help rescue neurological symptoms.
Very happy to see our work with Henry Houlden's group and others on RBL2/Rbf mutations linked to a multifaceted neurodevelopmental disorder, published in Brain today. This work was led by super post-doc @gabrielaughey.bsky.social, Elisa Cali, and Reza Maroofian.
academic.oup.com/brain/advanc...
academic.oup.com/brain/advanc...
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
RBL2 dysfunction, which disrupts cell-cycle gene expression, has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort o
academic.oup.com
January 6, 2025 at 6:57 PM
We report 35 patients with biallelic RBL2 loss-of-function variants presenting with developmental delay/intellectual disability, hypotonia, seizures, microcephaly & brain abnormalities. Drosophila models recapitulate key features & suggest RBL2 re-expression may help rescue neurological symptoms.