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

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!

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

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...

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

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

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.