Proud to share that our CAT-PD project team presented Parkinson's genetics updates from Central Asia & Transcaucasus at the GP2 meeting in Honolulu @asapresearch.parkinsonsroadmap.org Our cohort helped GP2 reach 100K genotyped samples & won the Best Poster Award! Thanks to all who made it possible

Long-read sequencing started helping to solve short read-negative rare disease cases from Central Asia & Transcaucasus, as part of the CAT_Genomics project run by @qs-neurogenetics.bsky.social . Thanks to @asapresearch.parkinsonsroadmap.org, we report CSNK1E-CGG expansion in PME: bit.ly/46HrELm.

Just returned from Shymkent, where I helped deliver Kazakhstan’s first 2-weeks neurogenetics course for neurologists. I shared insights from my UCL research on genetic disorders in Central Asia. Grateful to support better care and inspired by the rising interest in genetics in the region.

Pioneering genomic insights into rare pediatric neurological diseases in Central Asia & Transcaucasia! Our Nature Genetics correspondence highlights the CAT-Genomics consortium's impact in underrepresented regions, advancing diagnoses & novel discoveries. bit.ly/3V6lUE3