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Cas Simons

@cassimons.bsky.social
426 followers 27 following 2 posts

Rare disease program lead, Centre for Population Genomics. 🇦🇺🇳🇿

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Cas Simons @cassimons.bsky.social · 16/07/2025
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
seek.com.au
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
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Caroline Wright @carolinefwright.bsky.social · 28/05/2025
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!
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Reposted by Cas Simons
Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social · 18/05/2025
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
smh.com.au
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.
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Emma Chory, Ph.D. @chorye.bsky.social · 14/04/2025
When investors learn that the trait for green eyes is also ~20 SNPs
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Cas Simons @cassimons.bsky.social · 11/04/2025
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...
career10.successfactors.com
Career Opportunities: Rare Disease Bioinformatician (42637)
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Jodie Ingles @jodieingles27.bsky.social · 07/01/2025
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
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Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social · 10/01/2025
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
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Reza Maroofian @reza-maroofian.bsky.social · 06/01/2025
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.
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