@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile
@GENESIS-genomeproject

@genesis_genomes

enabling rare disease breakthroughs

ID: 1641561267197423616

linkhttp://tgp-foundation.org calendar_today30-03-2023 22:02:46

28 Tweet

183 Followers

46 Following

World Muscle Society (@worldmusclesoc) 's Twitter Profile Photo

We're very excited to be heading to Charleston, SC for #WMS2023 in October. Are you coming? Have you started planning your trip yet? Registration is open now: wms2023.com/page/registrat…

@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

GenePair is here! Genetic matchmaking in Mendelian disease research. app.tgp-foundation.org/genepair The open GENESIS gene LookUp and GenePair service provides an insight into variation in individual genes of ~18,000 genomic datasets from rare disease patients.

GenePair is here! Genetic matchmaking in Mendelian disease research.
app.tgp-foundation.org/genepair
The open GENESIS gene LookUp and GenePair service provides an insight into variation in individual genes of ~18,000 genomic datasets from rare disease patients.
Darius Ebrahimi-Fakhari (@dariusfakhari) 's Twitter Profile Photo

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

Afshin has done an enormous amount of work💪🏽 in just 2 years. Leading an 🌎 collaboration <a href="/BostonChildrens/">Boston Children's</a> with colleagues from @DZNE_en <a href="/uni_tue/">Universität Tübingen</a> <a href="/MGHNeurology/">MGH Neurology</a> et al, he described the clinical &amp; molecular spectrum of #hereditaryspasticparaplegia type 15 (SPG15) and a serum marker
@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

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-…

@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

GENE:PAIR - a new gene matching site Gene discovery; rare disease; looking for a second case/family? Try out matching your candidate genes. GENESIS GENE:PAIR contains variants and phenotypes from ~18,000 genomic datasets from rare disease patients. app.tgp-foundation.org/genepair

GENE:PAIR - a new gene matching site
Gene discovery; rare disease; looking for a second case/family? Try out matching your candidate genes.
GENESIS GENE:PAIR contains variants and phenotypes from ~18,000 genomic datasets from rare disease patients.
app.tgp-foundation.org/genepair
Nature News & Views (@naturenv) 's Twitter Profile Photo

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

A human reference pangenome has been generated. In this Forum,<a href="/AryaMassarat/">Arya Massarat</a> &amp; <a href="/mgymrek/">Melissa Gymrek</a> tell us how it was built, and Brian McStay &amp; Hakon Jonsson discuss the insights into repetitive sequence that we are already gaining from it  go.nature.com/3VRwM7Y
Stephan Zuchner, MD, PhD (@szuchner) 's Twitter Profile Photo

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-…

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 <a href="/uni_tue/">Universität Tübingen</a> <a href="/HertieNeuroSci/">HertieNeuroscience</a> 
 
academic.oup.com/brain/advance-…
@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

GENESIS is proud to support the COQ7 gene discovery study in the prestigious journal 'BRAIN' this months. Congrats to a collaboration of scientists in USA (Miami, Iowa City. St Louis), Brazil, Canada, Germany. This has implications for CMT, mitochondria research and more

GENESIS is proud to support the COQ7 gene discovery study in the prestigious journal 'BRAIN' this months. Congrats to a collaboration of scientists in USA (Miami, Iowa City. St Louis), Brazil, Canada, Germany. This has implications for CMT, mitochondria research and more
CMT United Kingdom (@cmtunitedkdom) 's Twitter Profile Photo

A big 'thank you' goes out to all our attendees, speakers and sponsors and everyone else involved in this year's CMTUK Conference. We have summarized the content from each session - please click here to read more: cmt.org.uk/post-cmtuk-con… #cmt #charcotmarietooth #cmtaware

A big 'thank you' goes out to all our attendees, speakers and sponsors and everyone else involved in this year's CMTUK Conference.  

We have summarized the content from each session - please click here to read more: cmt.org.uk/post-cmtuk-con…

#cmt #charcotmarietooth #cmtaware
@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

There are now 2,000 genomic datasets openly shared amongst registered researchers on the platform. It's an incredible resource - freely available for rare neurodegenerative research. Have you joined? Let your fellow scientists know. app.tgp-foundation.org/home. .

@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

The Genesis database and tools were established in 2011 to find genetic causes for rare diseases and to share data in a safe fashion amongst geneticists and physicians. Using our GENESIS platform, scientists have since found more than 100 rare disease genes or expanded the

@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

SORD, sorbitol dehydrogenase gene The cover of the May 2020 Nature Genetics journal depicted a tornado of artificial sugar packs, symbolizing sorbitol and its devastating effects on nerves. Scientists using the GENESIS genomic database and research platform made the

@GENESIS-genomeproject (@genesis_genomes) 's Twitter Profile Photo

September is CMT awareness month. But what is CMT???? Charcot-Marie-Tooth disease; a synonym for the clinical term Hereditary Motor and Sensory Neuropathy. First described in 1886 by the three doctors whose names this disease bears, Jean-Martin Charcot (1825-1893), Pierre Marie