This #JBMR Plus study suggests that the absence of Pten in specific bone precursor cells leads to stronger and more flexible bones @antje_garten Diana Le Duc Read more here: ow.ly/Jaln50QLZwx

Genetic diagnostic is not part of routine screening in patients with #obesity ↗️ More than one billion people worldwide are now considered obese. Methods & Results here: shorturl.at/FYBXj Thx: UNIVERSITÄT LEIPZIG Denny Popp Rami Abou Jamra Johannes Lemke Diana Le Duc DFG public | @[email protected]

The largest medical #AI randomized controlled trial yet performed, enrolling >100,000 women undergoing mammography screening, was published today The Lancet Digital Health The use of A.I. led to 29% higher detection of cancer, no increase of false positives, and reduced workload compared

Top 5 advances in medicine this week (🧵) 1. Gene therapy provided sight to children born blind The 4 children had a rare form of blindness, caused by mutations in the retina gene, AIPL1 A functional copy of this gene was introduced, in one eye per patient, using the other eye

Early-onset colorectal cancer is expected to become the leading cause of #cancer death in ages 20 to 49 in the U.S. by 2030. Research is urgently needed to better detect and treat patients, argues this #SciencePerspective: scim.ag/4i3RSdS #ColorectalCancerAwarenessMonth

Detecting Monogenic #Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals. This study aims to assess the diagnostic yield of monogenic obesity using #exome-wide data. Results here: rb.gy/1q2w65 *⃣ by Rami Abou Jamra, Johannes Lemke, Diana Le Duc, Denny Popp ...

Drosophila #WDFY3/Bchs overexpression impairs neural function. Currently, more studies are focusing on the loss of WDFY3/Bchs & its effects on the nervous system ➤ tandfonline.com/doi/full/10.10… by Julia Hentschel Rami Abou Jamra Diana Le Duc, etc. #neurogenetics

Do you want to do your #postdoc with the most prestigious #fellowship in Europe? Apply to DKFZ Marie Skłodowska Curie MasterClasses here: ➡️ t1p.de/uay9j Projects in #cancerresearch #genomics #bioinformatics #immunology #medicaltechnology #epidemiology Horizon Europe🇪🇺

Next generation #obesity medications will be dominated by peripheral mechanisms targeting energy expenditure Novo Nordisk sets sights on new type of oral #obesity drug statnews.com/2025/03/28/nov… via STAT Elaine Chen "Lexicon’s drug is an oral small molecule that blocks

📢 We're hiring (again!) – a doctor in training! Active participation in direct human genetic patient care 💙 Deadline: Tuesday 20th May 2025. Apply online here: bewerberportal.uniklinikum-leipzig.de/bewerberportal…

Unser junges, dynamisches Team in der genetischen Ambulanz am Uniklinikum Dresden sucht eine*n Oberarzt/Oberärztin (m/w/d): 🔗 karriere.ukdd.de/job/Dresden-Ob… Du bist noch in fortgeschrittener Weiterbildung? Melde dich trotzdem – wir entscheiden individuell! #Genetik #Karriere #UKD

🍽️ Can diet really improve cardiometabolic health? ⏳ Is intermittent fasting helpful? And what about artificial sweeteners, eggs & meat? We review the latest scientific evidence here 🔗 cardiab.biomedcentral.com/articles/10.11… #nutrition #CardiometabolicHealth Diana Le Duc Pasquale Paolisso

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome alistair pagnamenta Suresh Somarathi Ian Berry Siddharth Banka James Fasham Diana Baralle Exeter Rare Disease Genomics England

Most studies on clinical utility of exome sequencing in intensive care focussed on pediatric patients. In a new study in AJHG, the authors assessed diagnostic value of exome sequencing in critically ill adult patients and found a surprising 24% diagnostic yield, many with

For specific traits, polygenic risk scores (PRS) can be powerful tools for predicting adverse outcomes. They might offer opportunities to unlock early interventions with potential for massive public health impact. Obesity is one of these traits👇

Longdust, a new tool to identify highly repetitive STRs, VNTRs, satellite DNA and other low-complexity regions (LCRs). Similar to SDUST but for long regions. github.com/lh3/longdust

"Our ambition is to give everyone the chance to benefit from genomic medicine, not just those currently able to receive a diagnosis or treatment.” Read our Generation Study article online and in today’s copy of the Guardian: ow.ly/bHfc50X046i Mediaplanet UKIE

So happy to see our article ranking #1 for many weeks now! 🎉 Huge thanks to Diana Le Duc for the brilliant idea and smooth organization 🙌👏 👉 cardiab.biomedcentral.com/articles/10.11… #Nutrition #microbiome #CardiometabolicHealth #IntermittentFasting BMC Pasquale Paolisso

This is genuinely paradigm-shifting 1-3% of patients diagnosed with (relatively) common diseases – atopic dermatitis, inflammatory bowel disease, and multiple sclerosis – actually have much rarer monogenic conditions, revealed by genome sequencing Given the obvious importance