Central Asian & Transcaucasian Genomics Project | Interested in establishing Genomics studies across Central Asia & Transcaucasia led by @Ionsynapse @UCLION
Proud to share that our CAT-PD team presented PD genetics updates from Central Asia & Transcaucasus at the GP2 meeting in Honolulu, 2025.
Our cohort helped GP2 reach 100K genotyped samples & won the Best Poster Award!
Thanks to all who made it possible @IonSynapse
Glad to share that long-read sequencing is now solving short read-negative rare disease cases from Central Asia & Transcaucasus, part of the @CAT_Genomics . We report CSNK1E-CGG expansion in PME with incomplete penetrance: https://t.co/n7e3PmXvRO
Thanks to MJFF&GP2, @IonSynapse
Dr Rauan Kaiyrzhanov presented at the International Conference of Pediatric Neurology (ICPN) in Cairo 🇪🇬, sharing expert insights on movement disorders in DEEs. He also led seminars and in-depth discussions on rare neurological disease cases with Egyptian collaborators.
@UCLIoN
For #RareDiseaseDay2025, @IonSynapse is celebrating the invaluable contributions of our international collaborators, whose dedication is driving ground-breaking advancements in rare disease research across the globe. https://t.co/9f6rtd9kzV
Dr Mariam Isayan presenting her poster on ‘Rare Variant Association Analysis in Kazakhstani Parkinson’s Disease Population: Preliminary Results from GP2 CAT-PD Study’ at MDS Congress in Philadelphia, US @UCLIoN@UCL_Global@UCLBrainScience@movedisorder
Dr Rauan Kaiyrzhanov presenting his poster on ‘Investigating Copy Number Variations in SNCA and PRKN in a cohort of Kazakhstani Patients with Parkinson’s Disease and Healthy Controls’ at MDS Congress in Philadelphia, US @UCLIoN@UCLBrainScience@movedisorder@Rauan_Kaiyrzhan
Congratulations to our CAT-PD project member Dr Mariam Isayan, a neurologist and GP2 trainee from Armenia for receiving the GP2 Under-represented Populations Master's Program scholarship to undertake studies in Data Science at the University of Maryland Baltimore County. @UCLIoN
Dr. Rauan Kaiyrzhanov advocates for establishing a national brain biobank in Kazakhstan to advance research on neurodegenerative diseases like Parkinson's and Alzheimer's. @UCLIoN@UCLBrainScience@MichaelJFoxOrg@CAT_Genomics@Rauan_Kaiyrzhan Read more: https://t.co/lnFFre9htm
We were delighted to collaborate with @JepsonlabU for this year’s summer work experience placement with @SocialMobilityF. We welcomed a group of 16-18 year old students who were excited to learn about Neurogenetics & using flies to study brain diseases. @UCLIoN@UCLBrainScience
Dr Rauan Kaiyrzhanov presented to students from @SocialMobilityF on the importance of studying underrepresented populations, such as Central Asia. He highlighted how this research advances our understanding of the genetic underpinnings of Parkinson's disease. @MJFF@UCLIoN
Congratulations to Dr Mariam Isayan for winning the best poster prize at GP2 meeting in Malaysia “Unraveling the Genetic Architecture of Parkinson’s Disease in the Central Asian & Transcaucasian Population: A Preliminary Study” @UCLIoN@UCLBrainScience@UCL_Global@MichaelJFoxOrg
Thrilled to present at the annual GP2 meeting in KL, Malaysia! It was fantastic to update everyone on our CAT-PD project, reconnect with colleagues, and win the best poster competition with Dr. Mariam Isayan. Thanks to GP2 and MJFF for their incredible support!@CAT_Genomics
Dr Plant, a world-leading neuro-ophthalmologist from UCL delivered talks and a masterclass on neuro-opthalmology in Astana, Kazakhstan on June 5th 2024. He also lectured at the annual forum of the Astana Neurology Academy. @IonSynapse@UCLIoN@UCLBrainScience@UCL_Global
Dr @Rauan_Kaiyrzhan delivered lectures & seminars on movement disorders & neurogenetics at West Kazakhstan Medical University as part of a visiting professorship. This university is also recruiting patients for CAT-PD project. @UCLIoN@UCLBrainScience@IonSynapse@MichaelJFoxOrg
Dr Rauan Kaiyrzhanov presenting the keynote lecture at the International Conference of Pediatric Neurology 2024 in Cairo, Egypt this year on ‘Insights from Studying the Genetics of Rare Pediatric Neurological Diseases in Egypt’@UCLIoN@UCLBrainScience
Initiated by a Central Asian family with four members affected by CA8-related disorders, this study has expanded our understanding of CA8-RD, shedding light on its clinical and molecular spectrum @UCLBrainScience@UCL_Global@UCLResearch@movedisorder
Our study redefines CA8-related disorder as an autosomal-recessive cerebellar ataxia with neurodevelopmental features, challenging previous classification as CAMRQ3. Comprehensive analysis unveils clinical presentations & spectrum. @UCLBrainScience@UCLIoN https://t.co/r2aIHapWKs
Dr Rauan Kaiyrzhanov presenting CAT-PD consortium & CAT-PD project at recent GP2 regional investigator’s meeting in Cartagena, Colombia. To learn more about the CAT-PD consortium check out https://t.co/ApzLSP9iWP! @CAT_Genomics@ASAP_Research@MichaelJFoxOrg 🧠
Thrilled to share some news! 🎉🎉 I'll be speaking at GP2 Regional Investigator’s Meeting: Cartagena, Colombia on Feb 08 - 08, 2024. I would love to see you there! - via #Whova Event Platform
https://t.co/VFneFPbj01 #GP2
Excited to announce our latest publication validating the Kazakh version of MDS UPDRS! Thanks to my Kazakhstani colleagues, we now have validated Kazakh versions of MDS UPDRS and MDS UDysRS. Also, completed the 3rd stage of MDS NMS validation. Read more: https://t.co/FDjw9TaG4h