
@GENESIS-genomeproject
@genesis_genomes
enabling rare disease breakthroughs
ID: 1641561267197423616
http://tgp-foundation.org 30-03-2023 22:02:46
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183 Followers
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Visiting dear friends and colleagues at UCL Queen Square. maryreilly, Andrea Cortese, Henry Holden, David Pellerin



Afshin has done an enormous amount of work💪🏽 in just 2 years. Leading an 🌎 collaboration Boston Children's with colleagues from @DZNE_en Universität Tübingen MGH Neurology et al, he described the clinical & molecular spectrum of #hereditaryspasticparaplegia type 15 (SPG15) and a serum marker


Today is #NationalUndiagnosedDay GENESIS has immensely contributed to solving the diagnosis over 100 previously unknown diseases. @GENESIS-genomeproject tgp-foundation.org/d-i-s-c-o-v-e-…


A human reference pangenome has been generated. In this Forum,Arya Massarat & Melissa Gymrek tell us how it was built, and Brian McStay & Hakon Jonsson discuss the insights into repetitive sequence that we are already gaining from it go.nature.com/3VRwM7Y


FGF14, one of the most important genetic ataxias might be moving closer to therapy within months of discovery. Congrats to Prof Matthis Synofzik and team Universität Tübingen HertieNeuroscience academic.oup.com/brain/advance-…


Congratulations, Dr Bönnemann! NINDStrials Walter J. Koroshetz @NINDSnews








1st meeting led by Luca Schierbaum Boston Children's & Stephan Zuchner, MD, PhD & University of Miami to align #movementdisorder #hereditaryspasticparaplegia sequencing initiatives. Progress in #raredisease = scaling up & collaborating 🌎!🙏🏽 Spastic Paraplegia Foundation #HSPandPLS Spastic Paraplegia Foundation #hspandpls for bringing us together!
