Heiko Runz
@heikorunz.bsky.social
genetics, medicine, drug discovery, bioethics
Reposted by Heiko Runz
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
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
September 12, 2025 at 7:08 AM
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
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
Reposted by Heiko Runz
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...
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Nature Communications @natcomms.nature.com
🔗 doi.org/10.1038/s414...
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...
doi.org
August 18, 2025 at 10:09 AM
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...
Loss of CFHR5 function reduces the risk for age-related macular degeneration.
Nature Communications @natcomms.nature.com
🔗 doi.org/10.1038/s414...
Reposted by Heiko Runz
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...
June 21, 2025 at 8:58 AM
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...
Reposted by Heiko Runz
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 👇
We estimated missing intelligence test scores in @ukbiobank.bsky.social to reduce bias and boost power.
Preprint: www.medrxiv.org/content/10.1...
Thread 👇
June 21, 2025 at 4:08 AM
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 👇
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
Today insitro announces an exciting new collaboration with insighteyehub.bsky.social at Moorfields Eye Hospital, London, through the development of a novel #AI foundation model to identify and to support #drugdiscovery. Learn more: www.businesswire.com/news/home/20...
March 18, 2025 at 1:31 PM
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
Reposted by Heiko Runz
Tracking brain health via smartphones and smartwatches
www.nature.com/articles/s41... @naturemedicine.bsky.social
www.nature.com/articles/s41... @naturemedicine.bsky.social
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.
www.nature.com
March 4, 2025 at 2:51 PM
Tracking brain health via smartphones and smartwatches
www.nature.com/articles/s41... @naturemedicine.bsky.social
www.nature.com/articles/s41... @naturemedicine.bsky.social
Reposted by Heiko Runz
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...
www.cell.com/hgg-advances...
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...
www.cell.com
February 11, 2025 at 12:38 PM
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...
www.cell.com/hgg-advances...
Reposted by Heiko Runz
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
nature.com/articles/s41... open-access
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.
nature.com
January 30, 2025 at 1:59 PM
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
nature.com/articles/s41... open-access
Reposted by Heiko Runz
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:
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:
December 18, 2024 at 1:14 PM
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:
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:
Reposted by Heiko Runz
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...
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...
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 ...
endpts.com
December 18, 2024 at 1:11 PM
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...
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!
www.biorxiv.org/content/10.1...
Our study published today on #bioRxiv describe the identification of a deaminase that converts 5mC to T, enabling direct sequencing of the human methylome and genome. This achievement was made possible through a collaborative effort across all departments at #NEB.
Our study published today on #bioRxiv describe the identification of a deaminase that converts 5mC to T, enabling direct sequencing of the human methylome and genome. This achievement was made possible through a collaborative effort across all departments at #NEB.
December 9, 2024 at 3:05 PM
Congratulations @ettwiller.bsky.social & #NEB team! Started with sewage -> established a straightforward new technology to sequence the human methylome. Billiant!