Heiko Runz

Study reveals genetic balancing act between autoimmunity and cancer risk Researchers pinpoint genetic factors linked to both higher risk of a common autoimmune disorder and lower cancer risk

Large-scale FinnGen-based study by Reeve et al., just published in Nature Genetics, provides the most detailed genetic map of autoimmune hypothyroidism to date and reveals a surprising inverse relationship between hypothyroidism risk and skin cancer risk.
www.broadinstitute.org/news/study-r...

Podcast cover image for The Genetics Podcast Episode 204. The background is orange with faint letters A, C, T, G. On the right is a portrait of Samuli Ripatti wearing glasses and a suit. The title text reads: 'Bringing cardiovascular genetics and biobank discoveries into the clinic.' Below: 'With Samuli Ripatti of the University of Helsinki.' A label in the bottom right corner shows 'Ep 204'.

FinnGen is in the spotlight!
In EP 204 of #TheGeneticsPodcast, Prof. @sripatti.bsky.social, director of @fimm-uh.bsky.social, discusses how FinnGen’s data are helping translate genetics into real-world clinical tools, such as polygenic risk scores & treatment prediction.
🎙️ pod.fo/e/328c49

Loss of CFHR5 function reduces the risk for age-related macular degeneration - Nature Communications This study in the Finnish population reveals genetic reduction of the complement factor CFHR5 as enhancing retinal health and reducing the risk for age-related macular degeneration (AMD), suggesting n...

2/7 Reeve MP et al. @mpreeve.bluesky.social‬ @heikorunz.bsky.social @fimm-uh.bsky.social
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Nature Communications @natcomms.nature.com
🔗 doi.org/10.1038/s414...

New preprint - collab with the groups of @mehurles.bsky.social and @dr-appie.bsky.social. We imputed missing fluid intelligence test scores into ~170k @ukbiobank.bsky.social indivs & showed how this reduces bias and increases power for rare+common variant analyses. www.medrxiv.org/content/10.1...

Studying the genetics of intelligence measures can help us understand the neurobiology of cognition and neurodevelopmental conditions 🧬🧠

We estimated missing intelligence test scores in @ukbiobank.bsky.social to reduce bias and boost power.

Preprint: www.medrxiv.org/content/10.1...

Thread 👇

Much looking forward to work with insighteyehub.bsky.social & my colleagues at insitro.bsky.social to leverage large-scale retinal imaging & health data towards improving #drugdiscovery for brain and eye diseases

Smartwatch- and smartphone-based remote assessment of brain health and detection of mild cognitive impairment - Nature Medicine A study using iPhones and Apple Watches to track and analyze cognitive health over 18 months in more than 23,000 US adults demonstrates the feasibility of remote cognitive health monitoring and uncovers potential methods for early detection of cognitive decline.

Tracking brain health via smartphones and smartwatches
www.nature.com/articles/s41... @naturemedicine.bsky.social

Pitfalls in performing genome-wide association studies on ratio traits Any variant associated with either numerator or denominator will associate with the ratio in GWAS of sufficient size. Associations with ratio traits are thus not specific to the ratio. Instead, we rec...

Excited to share a new paper from @insitro.bsky.social (first author @zmccaw.bsky.social ) in @hggadvances.bsky.social vances.bsky.social on scrutinizing the practice of using a ratio trait (numerator / denominator) for GWAS.

www.cell.com/hgg-advances...

Plasma proteomic evidence for increased β-amyloid pathology after SARS-CoV-2 infection - Nature Medicine Blood biomarkers in a middle-aged population suggest that SARS-CoV-2 infection is associated with greater brain β-amyloid plaque accumulation.

Plasma protein and brain structural imaging evidence that SARS-CoV-2 is associated with greater brain β-amyloid pathology in older adults, particularly those hospitalized or with hypertension.
nature.com/articles/s41... open-access

Most interesting to me is insitro's divergence from many AI biotech peers by focusing on novel biology.

That is the far harder road — taking more time and resources than going after well-trodden biology.

But Koller has some strong thoughts on why it's a worthwhile challenge:

Exclusive: Insitro makes headway on the harder road, discovering new ALS drug target The AI-focused biotech insitro is advancing a new idea to potentially treat ALS, one of the most intractable and brutal diseases. The South San Francisco-based startup has identified a new ...

Exclusive: Insitro makes headway on the harder road, discovering new ALS drug target

CEO Daphne Koller shared with me the biotech's first progress update on a 2020 Bristol Myers collab on ALS & dementia.

More details here in my latest for @endpts.com:
endpts.com/exclusive-in...

Congratulations @ettwiller.bsky.social & #NEB team! Started with sewage -> established a straightforward new technology to sequence the human methylome. Billiant!