David Collier
humangenetics.bsky.social
David Collier
@humangenetics.bsky.social
Human geneticist 🧬 interested in psychiatry and neurology, GWAS, rare variants, bio banking, machine learning, drug discovery, biomarkers and risk prediction
Reposted by David Collier
Smart jab can shrink head & neck cancer tumours within 6 weeks, trial finds.

Triple-action therapy drug amivantamab could be given as an injection to help treat recurrent or metastatic cancers.

🧪💉 #medsky
www.theguardian.com/science/2025...
Smart jab can shrink head and neck cancer tumours within six weeks, trial finds
Triple-action therapy drug amivantamab could be given as an injection to help treat recurrent or metastatic cancers
www.theguardian.com
October 20, 2025 at 6:25 AM
Reposted by David Collier
I am delighted to share our new paper! nature.com/articles/s41...
Lizzie Kleeman & our Florey Institute team, with WEHI, UoM & others, found that paternal COVID-19 (SARS-CoV-2 infection) can alter sperm & offspring phenotypes, including anxiety. This discovery has major (brain) health implications!
Paternal SARS-CoV-2 infection impacts sperm small noncoding RNAs and increases anxiety in offspring in a sex-dependent manner - Nature Communications
Whether paternal pre-conceptual SARS-CoV-2 infection impacts sperm RNA content, or effects offspring phenotypes, has not been previously investigated. Here authors report changes in sperm noncoding RNAs in SARS-CoV-2 infected sires and increased anxiety-like behaviors in offspring.
nature.com
October 11, 2025 at 11:50 PM
Reposted by David Collier
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
www.medrxiv.org
October 20, 2025 at 1:40 PM
Reposted by David Collier
CRISPR gene editing has made its way into every corner of modern biology, but there’s one place CRISPR can’t easily reach: mitochondria. Researchers have been looking for other ways to precisely edit the mitochondrial genome and the past few years have brought some success. 🧪
Faulty mitochondria cause deadly diseases: fixing them is about to get a lot easier
CRISPR-based tools can’t easily access the DNA in these organelles, but researchers are finding other ways in.
go.nature.com
October 20, 2025 at 4:00 PM
👀👀Parkinson’s drug effective in treating persistent depression: pramipexole augmentation of antidepressant treatment, at a target dose of 2·5 mg, demonstrated a reduction in symptoms relative to placebo at 12 weeks but was associated with some adverse effects.” www.thelancet.com/journals/lan...
www.thelancet.com
October 20, 2025 at 1:28 PM