Genomic Medicine to decipher Brain Metabolic Disorders, from diagnosis to therapies #RareDiseases @CIBERER @IDIBELL @Icreacommunity. One Planet. Views my own.
Neurology Podcast: In today's episode, Dr. Aurora Pujol (@PujolLab) discusses the diagnosis of #genetic white matter disorders by singleton whole-exome and genome sequencing using interactome-driven prioritization. Listen now! https://t.co/Rdro8doAwp #NeuroTwitter
Happy International Women’s Day!
We’re celebrating women who have changed the world. Here are all of the amazing women who have received the #NobelPrize and their remarkable achievements at the time of the award.
Tell us about the women who inspire you the most - and why
#InternationalWomensDay
🧬Did you miss the 13th #CNAGSymposium? Don't worry, here are all the details!
A unique event that brought together cutting-edge genomics and healthcare, with 15 leading speakers and the participation of over 200 experts
📹Check out the presentations: https://t.co/KajgKYgI4Y
The Oxford Nanopore Seminar at UCL ION was an insightful day showcasing how long-read sequencing is driving breakthroughs in our understanding of Neurological Disorders & Rare Diseases. From resolving cryptic structural variants to tackling unsolved repeat expansion disorders, the talks highlighted the immense potential of this technology. A huge thank you to all the speakers for sharing their work! 🧬 @UCLIoN@nanopore@alistairp2011@ZhongboC@IonSynapse@LRS_UCL
Many years of solving diagnostic and scientific riddles with best genomics expertise of @cnag_eu. Such a blast of a meeting #eshg2024 in wonderful Berlin!
Our first day at #eshg2024 📸
➡️ Interesting meetings with partners such as @PujolLab from @idibell_cat
➡️ Booth 122 ready to inform you about:
🧬High throughput sequencing
🔬Long read sequencing
🧫Spatial & Single Cell Genomics
💻Platform for #rarediseases
See you today!
How does mitochondria sense and control their glutathione levels? Our new work @ScienceMagazine by a fantastic student @YuyangLiu1996 describing a redox metabolite sensing mechanism for mitochondria. @RockefellerUniv@TheMarkFdn https://t.co/6JxemVxbbS
First-ever: We've identified a new astronomical object, 'Buried Planet', using SEISMOLOGY, rather than telescopes. It's a survivor of Theia, the planet that collided with Earth 4.5 billion years ago to form our Moon. See our @Nature cover paper: https://t.co/ILvMStRA4V
Exciting scientific discussions with @Auwerx_Lab, @Prinetti1 @PatriciaMin19 @MelissaPitman17 @gvdgoot, from membrane biology to viral infectivity, to complex metabolic and rare genetic disorders. The dawn of a new era indeed! Awesome location #Madeirabelongstoall