📖Welcome to read the Special Issue E-book: Genetics of Neurodevelopmental Disorders 👥GE: Prof. Tjitske Kleefstra Tjitske Kleefstra 💐f.oaes.cc/read_online/sp…

Excited to discuss fetal skeletal dysplasia in Baghdad at the ISOG conference. Sharing my research and looking forward to presenting the findings! 📚👶 #MedicalResearch #ISOGConference #FetalHealth

“TRAPPopathies” are an emerging set of disorders associated with mutations in subunits of the TRAnsport Protein Particle (TRAPP) complexes. In this study, we further delineate a severe NDD with Microcephaly and abnormal movements related to biallelic pathogenic TRAPPC6B variants.

Exploring Iraq's genetic enigmas with Prof. Henry Houlden from UCL! Witnessing rare phenotypes, guiding genetic tests in Baghdad & Karbala. Together, we aim to uncover hidden cases. 🧬 #GeneticResearch #IraqNeurogenetics Rahema UCL Queen Square Institute of Neurology

During their recent trip to Iraq, Prof Henry Houlden & Dr Ehsan G. Karimiani met with patients and also local clinicians to discuss ongoing collaborations into genetic research on neurological disorders. UCL Global Engagement UCL Queen Square Institute of Neurology UCL Brain Sciences

🔬A pioneering gene therapy trial is underway for children with auditory neuropathy, aiming to restore hearing quality beyond cochlear implants. Supported by NIHR, this breakthrough offers hope for genetic hearing loss. #GeneTherapy #HearingLoss 🦻✨

Our study reveals that biallelic PTVs in CASP2 lead to an NDD with lissencephaly-pachygyria. Interestingly, CASP2 alongside PIDD1 & CRADD, which are also associated with similar clinico-radiological presentation, collectively form the PIDDosome complex. nature.com/articles/s4143…

The afternoon session at #ESPT23 is underway with Bill Newman speaking about the use of point of care systems in pharmacogenetics - discussing our experience of the The PALOH Trial with genedrive plc.

New paper from Reza Maroofian & colleagues - Bi-allelic #ACBD6 variants lead to a #Neurodevelopmental Syndrome with progressive & complex movement disorders. Pleased to see this one finally out in ⁦Brain⁩ 🧬 #RareDisease ⁦Newlife the Charity⁩ academic.oup.com/brain/advance-…

Asia's ancient hominins remain enigmatic, with diverse fossils leaving us puzzled about their story in human evolution. Uncertainty prevails in understanding our early Asian origins. #Hominins #HumanEvolution

Diving into ancient DNA on rare osteopetrosis 5000 yrs ago was fascinating. Resonated with a patient's condition, highlighting timeless puzzles in rare diseases. Links ancient history & modern healthcare. #Genetics #Osteoporosis #MedicalMysteries

When a host tells you "make youself at home", it is usually to remind you that you are only a guest, the home is not yours, and you should very carefully in obeying the house rules.

Happy to collaborate on groundbreaking research uncovering a new neurodevelopmental syndrome linked to GTPBP1 and GTPBP2 variants. This study illuminates shared phenotypes, offering crucial insights into ultra-rare disorders and CNS development. #Collaboration #Neuroscience

The mystery of MS genes! A research team reveals a "quantum leap" in understanding the evolution of multiple sclerosis. Genes that once protected against animal diseases now link to MS risk. The study explores the impact on disease treatment. #MultipleSclerosis #GeneticsResearch

Check out new story on #GPC of biallelic #NOTCH3 mutations in #CADASIL and recessive small vessel disease! With Pablo Iruzubieta Agudo Reza Maroofian Fowzan S Alkuraya Wendy Chung Stephan Zuchner, MD, PhD and many others!

TRMT1 & TRMT1L modify tRNAs, essential for protein production. Their modifications are crucial for tRNA stability & function. Biallelic TRMT1 variants are linked to intellectual disability, while TRMT1L variants lead to a recessive neurodegenerative disorder. Check our new paper!

Honoured to speak at the 11th Neurogenic Symposium in Kerman, Iran! 🧠✨ The timing with #RareDiseaseDay made it a great opportunity to discuss rare disorders & gene discovery. Truly amazed by Kerman’s history & the warm hospitality! 🙌 #Genetics #Neurogenics #GeneDiscovery

How can patient collaboration drive the future of rare disease therapies? This Genomics England podcast dives into patient-driven research, gene therapy, and equitable access. A must-listen! 🎧🔬 ow.ly/MNvs50VcQpn #RareDiseaseDay #Genomics #GeneTherapy

Our latest review is out! We explore the genetic complexity, immunological features, and evolving therapies in Hyper IgE Syndromes (HIES). A deep dive into STAT3, IL6R, ERBIN, PGM3, and more. Read here: onlinelibrary.wiley.com/doi/full/10.10… #RareDiseases #Immunology #Genetics #HIES

As a medical geneticist, I see firsthand how tough the diagnostic journey can be. On #UndiagnosedChildrensDay, let’s support families still searching for answers. Proud to stand with SWAN UK (syndromes without a name). #SWANUK #GeneticsMatters