Researcher in statistical genetics

Amsterdam, The Netherlands
Joined August 2013
Emil Uffelmann retweeted
If you’ve ever run a GWAS, chances are you've used COJO (Conditional and Joint analysis). Well, we've extended and improved (up to 100× faster 🚀) this essential tool in the GWAS toolkit to enable joint analyses across multiple ancestry groups. Paper: nature.com/articles/s41588-0…
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Emil Uffelmann retweeted
Interesting new preprint from Uffelmann & Visscher on properly converting Nagelkerke’s R^2 for disease PGS to the liability scale.
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1/ New preprint 🧵 Lee and colleagues (Genet Epidemiol, 2012) introduced a canonical formula to transform linear-regression variance explained (R²) to the liability scale.
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6/ We provide an R function to implement the conversion. It applies directly to previously published Nagelkerke R² estimates, placing them on a comparable scale without reanalyzing individual-level data.
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Emil Uffelmann retweeted
I’m currently recruiting an experienced postdoc to join our team in Brisbane for at least two years, working on some cutting-edge problems in statistical genomics and genetic epidemiology. Link here: uq.wd3.myworkdayjobs.com/uqc…
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Emil Uffelmann retweeted
Our genetic association study of the Big Five personality traits (extraversion, agreeableness, conscientiousness, neuroticism and openness to experience) came out in @Nature today, check it out here (open access): nature.com/articles/s41586-0…
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Hoffentlich. Sie war angetreten, die AfD klein zu machen. Jetzt bettelt sie darum, mit der AfD zu regieren. Ein beispielloser moralischer Absturz
Es gibt sie noch, die guten Nachrichten.
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Emil Uffelmann retweeted
Ordinary Abundance. This is the greatest thing I've read in weeks. No kidding. This should win a Pulitzer in a category not yet invented. ordinaryabundance.com/
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In March 2024, at the age of 35, I was diagnosed with stage IV rectal cancer with a metastasis in my liver. This was a shock: I had no family history, and none of the doctors suspected it. After two years of chemotherapy, radiation, and multiple surgeries, I'm still not cured. Now I'm asking for help to get a personalized cancer vaccine. This is my story so far. Following diagnosis, I was treated with total neoadjuvant therapy at UCLA. I had 6 weeks of radiation and chemotherapy (Xeloda). This was followed by 6 rounds of oxaliplatin infusions and Xeloda. I tolerated this unusually well. During this period, I managed to hike up to over 11,000ft multiple times in the Sierras, and I wrote the main text of a 72 author meta-analysis paper and submitted it to Nature where it is still in review. I showed a good clinical response, and at the end of October I had surgery: I was under for 9 hours, and they cut out a bit of my rectum, 1/3rd of my liver, and gave me a temporary ileostomy. Waking up from this was probably the strangest experience of my life: I felt more machine than man, and I had wild hallucinations form such a large dose of anesthesia. It took a while to feel OK after that surgery. However, I still had the ostomy. I had that reversed at the end of January in another surgery, which took a greater toll on me than I expected. I only just started to feel OK again and I got bad news: I got a positive circulating tumor DNA test (ctDNA), the signatera test from natera. Unfortunately, the ctDNA carried on rising, and in July 2025 a new lesion appeared in a lymph node near my liver (periportal). I was treated with irinotecan and panitumumab infusions, which showed a good response, followed by live MRI guided SBRT radiation treatment to the lesion. However, after finishing this treatment, the ctDNA remained positive and began rising again. I restarted irinotecan and panitumumab infusions, which brought ctDNA back to negative (signatera), although it remained positive on the more sensitive Personalis assay. During this period I had begun to develop stomach pain and digestive symptoms. Then I collapsed vomiting blood while out in Santa Monica and was rushed to the ER. They found out I had a duodenal ulcer that had bled. I had some blood transfused, and I was sent home to complete an intensive course of antibiotics for H. Pylori infection. However, after about a week, I started to get very weak. I collapsed again and went back to the ER in an ambulance. They found my hemoglobin was 5g/dL, a dangerously low level (normal is over 13.5). Multiple blood transfusions didn't bring it up and I collapsed again in the night after passing a large amount of blood. They took me to intensive care and performed an emergency endoscopy where they clipped and sprayed the ulcer. Thankfully this worked and I was discharged after another 3 nights in hospital. Unsurprisingly, nearly bleeding to death wasn't good for me, and my ctDNA began to spike rapidly. I had a PET-CT and it revealed 3 new disease sites in abdominal lymph nodes. I restarted irinotecan and panitumumab infusions after barely recovering from the ulcer incident. This showed an excellent response, with the sites resolving on imaging, although ctDNA remained positive. I've now started bot/bal immunotherapy, a not yet approved immunotherapy treatment that is the first of its kind to show strong results in my kind of cancer, micro-satellite stable colorectal cancer. This was possible thanks to a donation from an anonymous benefactor and supporter of free and open inquiry in science. Hopefully this treatment will be effective, but it is unlikely to be enough on its own to prevent future disease recurrence. I am asking for help to get a personalized neoantigen cancer vaccine, which could substantially increase my chances of surviving this deadly disease that is likely incurable under standard care. While cancer vaccines have shown promising results, they are not yet approved, meaning one has to pay for the design, manufacture, and administration of the vaccine. The total cost of which is $104,133, beyond my means or those of my family. Any help would be greatly appreciated! I've started a GoFundMe here: gofundme.com/f/cancer-vaccin…. Please donate and share with anyone who might be interested in helping. I've carried on working throughout this period and I'm still running a research group in statistical genetics at UCLA. I'm hoping to continue making contributions to science for as long as I can, hopefully longer with your help.
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Emil Uffelmann retweeted
Researcher: "We let the data speak for itself." Earlier that day:
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Emil Uffelmann retweeted
One of my first consults as a cardiology fellow: a 34-year-old, textbook MI. A day earlier, no risk model would have flagged him for prevention. That paradox has driven my work ever since — our models miss how disease actually evolves, dynamically, on top of a genetic background. @Nature nature.com/articles/s41586-0…
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Emil Uffelmann retweeted
Stellar review of the recent and remarkable advances vs Alzheimer's disease (AD). Towards "a future where AD is not only treatable but also preventable." @CellCellPress cell.com/cell/fulltext/S0092…
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No evidence of an effect of the shingles vaccine on dementia risk in England, in an analysis following a similar regression discontinuity design as previous studies, but in a larger sample.
How strong is the evidence that live shingles vaccination prevents the risk of dementia? A talk yesterday @oxprimarycare on this available here youtu.be/qlTnnQytOJ0
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