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

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

seek.com.au

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!

GenomeSeb@genomeseb.bsky.social · last yr.

@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...

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

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.

smh.com.au

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

Tatiane Yanes@tatyanes.bsky.social · 2y ago

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/...

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

@ben-weisburd.bsky.social · 2y ago

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]

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.

Jepson Lab, UCL@jepsonlabucl.bsky.social · 2y ago

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...