Nicky Whiffin @nickywhiffin
Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social rarediseasegenomics.org London, UK Joined November 2016-
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Today is a day for all those people who have yet to receive a diagnosis for themselves or their child. It can be a difficult place to be, but luckily there is a fabulous organisation @SWAN_UK who can help! #udcd2024
Last chance to register for our online course! All lectures will be online next week (and remain online for several months). You can use a chat to ask questions to lecturers. Only 50€ registration cost - for a world class line-up of speakers. eshg.org/bertinoro0-1
Recently out on #bioRxiv: our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (@gnomad_project). 1/n biorxiv.org/content/10.110…
Our paper “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is out in Scientific Reports! Three interesting findings led to this study: nature.com/articles/s4159…
We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to @Unique_charity (@swynn_unique).
We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to @Unique_charity (@swynn_unique).
We are hosting the awesome @GosiaTrynka next Monday! If you are around, don’t miss the opportunity to hear about her latest research!
We are hosting the awesome @GosiaTrynka next Monday! If you are around, don’t miss the opportunity to hear about her latest research!
This seems like a GREAT reason to know that the exome is defined by what's spliced, not what's translated.
This seems like a GREAT reason to know that the exome is defined by what's spliced, not what's translated.
Can we detect the #RNU4-2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 @nickywhiffin @ChristelDepienn
Firstly, you only find what you look for. This is the most recurrent single mutation in the genome in patients with neurodevelopmental disorders, but has been missed to date because it falls outside protein-coding regions. A good reminder to think outside the ORF. (2/3)
Yuyang identified a highly recurrent de novo variant in @GenomicsEngland, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
A/Prof Jodie Ingles @jodieingles27
8K Followers 3K Following Head, Clinical Genomics Lab | Program Director, Genomics & Inherited Disease @GarvanInstitute | Cardiac Genetic Counsellor | Swiftie | Opinions my own
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Eric Fauman @Eric_Fauman
6K Followers 247 Following GWAS whisperer 'Nothing in biology makes sense except in the light of evolution' -Dobzhansky DMs open Executive Director, Integrative Biology @Pfizer
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Andrea ganna @andganna
3K Followers 607 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Michael Love @mikelove
18K Followers 5K Following I'm not on twitter anymore, find my on Bluesky or Mastodon
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Exeter Rare Disease @RDExeter
2K Followers 1K Following Prof Andrew Crosby, Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases. https://t.co/tOiyuM6pYT
Konrad Platzer @platzer_k
1K Followers 391 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Carl Anderson @anderson_carl
3K Followers 990 Following Head of Human Genetics and Senior Group Leader (Genomics of Inflammation and Immunity) at Wellcome Sanger Institute. A particular focus on IBD. #firstgen
JMG @JMG_BMJ
2K Followers 1K Following Journal of Medical Genetics - a leading international peer-reviewed journal ➡ Original research in human #Genetics #Research #Genomics #RareDisease #Cancer
Alicia Oshlack @AliciaOshlack
9K Followers 1K Following Bioinformatics, computational biology, genomics, Women in Science
Vijai Joseph @JVJAI
1K Followers 2K Following Cancer Geneticist @sloan_kettering, NYC. Fxnl Genomics, Bioinformatics, GWAS, and automation of pathogenicity in cancer genes. Views my own.
Björn @Danko23
24 Followers 337 Following
Ben Lehner @BenLehner
5K Followers 4K Following Head of Generative and Synthetic Genomics @sangerinstitute; Systems + Synthetic Biology @CRGenomica; Co-founder https://t.co/5N3PvqNXec https://t.co/l6NKYFgZBP
Barbarii Teodora @TeodoraBarbarii
28 Followers 99 Following Medical Genetics resident in training. Interested in studying neurodevelopmental disorders and rare neurogenetics diseases #NDDs, #neurogenetics, #rarediseases
NHS SW Genomic Medici.. @SWGenomics
1K Followers 2K Following Improving Healthcare Through Genomics - working together to embed Genomics into standard care for patients and families across the South West.
Mohammad Banazadeh @mbscientist1994
309 Followers 4K Following I am a Research Assistant at Kerman University of Medical Sciences. I perform research in different fields from neuroscience to bioinformatics.
Marta Sevilla @marta_sevilla2
143 Followers 177 Following
Nael @naelnadif
1K Followers 824 Following Neurobiologist, modelling developmental brain disorders using stem cell derived models, synapse biology, chromatinopathies, KULeuven, CSHL, Radboudumc
christoffer hother @c_hother
72 Followers 802 Following
Rosa WatTyler @prollywillquit
149 Followers 2K Following Hoosier. Teamster. I just want jokes and to talk about TV, movies and books (and baseball)---But will fight for Bread and Roses . 1 Corinthians 13:12
ani @animesh1977
2K Followers 1K Following Medico turned (bio)informatician, trying to map genome to meta/proteॐ either as human or as BOT. RTs are NOT endorsement! Ramanujan, #Gita is the inspiration 🙏
Jüce @juce_001
1K Followers 1K Following 🥨 chips | Falasteen | America Foist 🇺🇸️ Add on Nostr (decentralized): [email protected]
Julez_fern @julez_fern
10 Followers 84 Following
Jesse Engreitz @jengreitz
4K Followers 405 Following Assistant Professor @stanford Genetics and BASE Initiative. Mapping the regulatory code of the human genome to understand heart development and disease.
Noni🧬 @shaluvk
367 Followers 294 Following Shalu Verma Kumar, DVM, Ph.D. Scientist, artist, aesthete, and optimist. All opinions my own.
Peter Krawitz @KrawitzPeter
560 Followers 595 Following For precision medicine human and artificial intelligence need to join efforts.
Elon Reeve Musk @EMusk9024
193 Followers 26 Following
Graham Lough @GrahamLo_Resp
31 Followers 317 Following Research scientist at Respiratory Effectiveness Group. Interest in RWE / genomics / risk / epidemiology / ILD and that sort of thing.
guynes @k_guynes
384 Followers 1K Following Postdoc Jachowicz Lab @IMBA_Vienna | PhD @Chema_MD lab | MSc @ Partridge Lab, @IHAatUCL
ESE HUMPS @ese_humps
4 Followers 405 Following
Heather Margrill @LeelaTurangasI
0 Followers 2 Following
Steve Thorn @drthorn
91 Followers 306 Following Computational cancer biology @OxfordOncology 🧬 | Previously @EdinCRC @roslininstitute @ESA @CERN | Parent, gardener, cat butler 🏴 🇬🇧🇪🇺he/him
Jess Ron @AmazingTwo1961
0 Followers 7 Following
Emanuele Raineri @EmaRaineri
189 Followers 80 Following
Warren-Charlie @longtermisms
163 Followers 5K Following Price is what you pay- value is what you get. I have nothing more to add....
Juhyeon Hong @hongjuhyeon5
43 Followers 36 Following
Tom Dinneen @Tomas_ODuinnin
437 Followers 742 Following Irish post-doc researcher studying the genetics of neurodevelopmental conditions @ the Beacon Research Group, SickKids, Toronto 🧬🍁☘️ | All opinions are my own
L @32761110L
0 Followers 6 Following
Unique @Unique_charity
8K Followers 2K Following Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. https://t.co/GkIBlYg5c5
Clara Albiñana @clara_albi
406 Followers 487 Following Postdoctoral researcher @AarhusUni | Currently visiting @IMBatUQ
Reflexivity Master | .. @talentumdon
12 Followers 914 Following ready to learn! cs.agile #self2service
Sierra @SierraFly22
2 Followers 97 Following
Siddharth Banka @smbanka
979 Followers 371 Following #Researcher #Clinician #Professor #GenomicMedicine #RareDisorders @OfficialUoM #ClinicalDirector @mft_iMRare #Chromatin #CNVs #IEMs 🧬🏏🇬🇧🇮🇳 #Manchester
Jana Gurasashvili @JanaGurasashvi1
75 Followers 471 Following
Alice de Sampaio Kalk.. @quantumlandbook
1K Followers 1K Following 📖 Writer of science and fiction 📑 Epidemiologist #BiInSci ✨ Sultai Mean Girl 👩💻she/her
I. Emilie Steinmark @IEmSteinmark
608 Followers 3K Following Science/Digital @TheEconomist. She/her. Tips? emiliesteinmark @ economist . com
The Mill Lab @Mill_lab
3K Followers 2K Following Group at @mrc_hgu using genetics, cell biology and lots of imaging to unlock the mysteries of mammalian #cilia. Also on the otherside: @[email protected]
Storch Lab at BCM @BCMStorchLab
772 Followers 1K Following The Storch lab @BCMHouston drives innovation in the treatment of mental health disorders through research, evidence-based practice, and novel approaches.
Carlos Loya @cloyaphd
18 Followers 215 Following Neuroscientist | Biotech Entrepreneur | Investor - views my own
Josh Weinstock @J__Stock
566 Followers 1K Following Research Scientist @JohnsHopkins. Excited about the mysteries in our genomes. #genetics #biostatistics
Jonathan Grant @jcgrant31
9 Followers 39 Following
Eric Kernfeld @ekernf01
540 Followers 1K Following Statistician and computational biologist; uw alum; jhu student in @cahanlab, @alexisjbattle lab. He/him. https://t.co/jaMuFiHR9y
Rosalind Martin @MartinRosalind
30 Followers 167 Following
John Maguire @JCMaguire
97 Followers 267 Following Clinical Scientist & PhD.Interested in clinical & experimental Visual Electrophysiology, based in the Children's Neuroscience Centre @CHI Crumlin. Views my own.
Mahdi Muhaddesi @MahdiMuhaddesi
217 Followers 604 Following 💊🔬Co-Founder at @RaycaBio | Precision Medicine | #HealthTech Startup Founder | Next Generation Sequencing (NGS) | #PrecisionOncology | https://t.co/Gy9fxBfvt0
Beth Psaila @beth_psaila
2K Followers 1K Following Assoc Professor of Haematology and Megakaryocyte Biology @MRC_WIMM, Univ. of Oxford. https://t.co/OhvT56q6XI. Co-Founder @Alethiomics
Ramakrishnan R @dr_ramki
25 Followers 84 Following
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
A/Prof Jodie Ingles @jodieingles27
8K Followers 3K Following Head, Clinical Genomics Lab | Program Director, Genomics & Inherited Disease @GarvanInstitute | Cardiac Genetic Counsellor | Swiftie | Opinions my own
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Eric Fauman @Eric_Fauman
6K Followers 247 Following GWAS whisperer 'Nothing in biology makes sense except in the light of evolution' -Dobzhansky DMs open Executive Director, Integrative Biology @Pfizer
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Pradeep Natarajan @pnatarajanmd
23K Followers 819 Following Dir of Preventive Cardiology @MassGeneralNews | Assoc Dir of Personalized Medicine @MassGenBrigham | Assoc Prof @harvardmed | Assoc Mem @broadinstitute
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
Andrea ganna @andganna
3K Followers 607 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Exeter Rare Disease @RDExeter
2K Followers 1K Following Prof Andrew Crosby, Prof Emma Baple & team @ExeterMed defining the genomic & molecular basis of rare diseases. https://t.co/tOiyuM6pYT
Michael Hoffman @mich.. @michaelhoffman
23K Followers 7K Following Chair, Comp Bio & Medicine Program, Princess Margaret Cancer Centre. Assoc Prof, Med Biophysics & Comp Sci, University of Toronto. COI https://t.co/CvupKNIjZr
Carl Anderson @anderson_carl
3K Followers 990 Following Head of Human Genetics and Senior Group Leader (Genomics of Inflammation and Immunity) at Wellcome Sanger Institute. A particular focus on IBD. #firstgen
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Anne Carpenter, PhD @DrAnneCarpenter
22K Followers 2K Following Discovery in images. Enthralled by science. 5 kids. She. SAB Recursion, Quiver. Founder SyzOnc. https://t.co/CQCHnSAc9M
Dennis Lal @LalDennis
3K Followers 329 Following Director of the Center for Neurogenetics; Associate Professor at UTH - Neurogenetics & Informatics - My opinions are my own & do not reflect my employer.
Ben Lehner @BenLehner
5K Followers 4K Following Head of Generative and Synthetic Genomics @sangerinstitute; Systems + Synthetic Biology @CRGenomica; Co-founder https://t.co/5N3PvqNXec https://t.co/l6NKYFgZBP
Dr. Lori L. Isom @LoriLIsom1
1K Followers 493 Following Neuroscientist, sodium channel biologist focusing on the developmental and epileptic encephalopathies, Department Chair, mentor, mom - views are my own
Rebecca Berrens @RBerrens
2K Followers 3K Following Berrenslab, Henry Wellcome Fellow, @IdrmOxford Group leader @OxPaediatrics @ReubenCollege, #SkypeAScientist #transposons #singlecells #longreads
Yuyang Chen @quenchentin
114 Followers 49 Following PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75)
Christel Depienne @ChristelDepienn
961 Followers 843 Following Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2
Gareth Hawkes @GarethHawkes1
282 Followers 181 Following Postdoctoral Research Fellow, Genetics of Complex Traits, Exeter. Interested in rare variant association analysis, whole genome sequences
ExeterGenomes @ExeterGenomes
2K Followers 466 Following Latest news and updates from the exome and genome sequencing service at the Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust
Emily Brookes @EBrookesNeuro
520 Followers 578 Following Group Leader in neuroepigenetics at the University of Southampton, working on enhancers in the brain
Alicia Ljungdahl @ljungdahlalicia
137 Followers 238 Following Jr Specialist in the Sanders Lab @UCSFPsychiatry & @IdrmOxford | @UCBerkeley Alum
Clare Bycroft @bycgen
310 Followers 229 Following A Kiwi Taking on the World, Human Genetics, Therapeutics R&D, Art, and all things in between.
Eva Holtkamp @Holtkamp_Eva
141 Followers 233 Following PhD student in Computational Biology at @gagneurlab and Theis lab at TU Munich | Previously at @StatGenomics @UniHeidelberg
Manchester Rare Condi.. @mft_iMRare
602 Followers 234 Following Official Manchester Rare Conditions Centre account. Improving lives of people with rare conditions
Bana Alamad @AlamadBana
82 Followers 159 Following DPhil (PhD) student at @HumanGeneticsOx & @UniofOxford | Previously at @Cambridge_Uni & @nyuabudhabi 🧬🔬
🧬Ian Simpson👨�.. @tisimpson
1K Followers 2K Following Professor of Biomedical Informatics @InfAtEd, Dir. @AI4BI_CDT - Bioinformatics, Machine Learning, BioNLP, Genomics, Genetic Disease
Chloe Yap @doyouseewhy
645 Followers 609 Following MD-PhD | autism omics | biology of mind+body | do you see why it's seewhy 🤷 @MaterResearch @PCTGenomics ex-Fulbright Scholar @GandalLabUCLA
Sean Zheng @SeanLZheng
156 Followers 238 Following Dog daddy, academic cardiologist, PhD at Imperial, cardiomyopathy/genomics
Jillian Hastings Ward @HastingsJ123
2K Followers 1K Following 'that mother' - #R4Today🎙Independent Chair of Participant Panel @GenomicsEngland, founding board member @CureGRIN, Mum and wife. Write a bit. Views own
Mila's Miracle @stopbatten
886 Followers 340 Following Mila fought hard against Batten disease, a rare fatal condition with no cure. Her story is now giving new hope to millions with genetic disease.
John Greally @greally
3K Followers 1K Following Medical genomics and 'epigenetics' @einsteinmed Clinical geneticist @MontefioreNYC Co-Director @NewYorkCRD @greally.bsky.social
Hannah Robinson 🧬�.. @DrHKRobinson
678 Followers 474 Following Principal Clinical Scientist at Exeter Genomics Laboratory (SWGLH) 🧬 R14 Rapid Genome/Exome Team 🧬 NHS 🧬 HSST 🧬 Neuroscience PhD 🧬 All views my own.
Beyond the Diagnosis @BeyondtheDx
9K Followers 5K Following Beyond the Diagnosis unites art and science to inspire research and innovation of treatments for people living with rare and neglected diseases.
International Congres.. @Genetics2023
2K Followers 4K Following In July 2023 Melbourne, Australia will host a huge Genetics Congress. It’s the ‘Olympics’ for Geneticists. Info at https://t.co/gPhNrecbAT Email:[email protected]
LifeArc @lifearc1
7K Followers 3K Following Medical research non-profit transforming promising life science ideas into medical breakthroughs that change patients’ lives.
Paul Donlin-Asp 🏳�.. @PDA_PhD
1K Followers 2K Following ESAT fellow SIDB University of Edinburgh. opinions solely mine and very 🏳️🌈.
Prof Zornitza Stark @ZornitzaS
2K Followers 1K Following Clinical Geneticist, @TeamVCGS @AusGenomics @PanelAppAus @RCHMelbourne @MCRI_for_kids #AcuteCareGenomics. Professor @UniMelbMDHS. All views are my own.
Jenny Lord @DrJennyLord
100 Followers 150 Following Lecturer in Systems Biology at the University of Sheffield interested in RNA, splicing, big data, rare disease diagnostics and neuroscience
Abingdon Hockey Club @AbingdonHockey
848 Followers 143 Following AHC is a social and fast growing club with ladies, men’s and junior sections of all abilities. If you want to play hockey, get in touch!
Carlo Rinaldi @rinaldi_ca
275 Followers 328 Following Neuroscientist at the University of Oxford • PI @The_R_lab • Molecular and Translational Neuroscience • he/him/his
The RNA Society @RNASociety
16K Followers 50 Following Official account of the RNA Society; on a mission for an RNA emoji; often enjoys base-pairing; always a fan of U.
Jonathan Pritchard @jkpritch
15K Followers 358 Following My lab at Stanford studies human population genetics and complex traits.
Fyodor Urnov @UrnovFyodor
15K Followers 533 Following Gene editor + Professor of Molecular Therapeutics @berkeleyMCB + Director of @igisci @danahercorp Beacon for CRISPR Cures.
Carlos E Alvarez, PhD @CarlosEAlvare17
612 Followers 548 Following I study complex genetics & molecular pharmacology. Interests include canine-human comparative genomics of behavior, cancer & pleiotropy; & alpha arrestins.
Frauke Coppieters @CoppietersF
112 Followers 266 Following PI @UGent and @RAREMED1, fascinated by RNA therapeutics and lncRNAs in rare diseases
Ben Goldacre @bengoldacre
451K Followers 3K Following Prof of EBM @UniOxford, author, Bad Science, more. I run https://t.co/NsF4BBoZ5V making tools+papers from data https://t.co/v6679t19rv https://t.co/bGysxEAgnn
Carl Zimmer @carlzimmer
284K Followers 2K Following I write about science https://t.co/kFEXJadgqf (I didn't pay for that blue check.)
Dr Ali Kay 🧬📚�.. @AliMakesHay
2K Followers 2K Following People, genetics/genomics & personalised medicine. Researcher @RDMOxford Research Fellow @CPMoxford @StAnnesCollege Volunteer Muscular Dystrophy UK. Tweets own
Solve-RD @Solve_RD
2K Followers 402 Following Solve-RD is a H2020 funded flagship EU project. We will solve large numbers of rare diseases, for which a molecular cause is not known yet.
Danny E. Miller MD Ph.. @danrdanny
2K Followers 663 Following No longer using Twitter: find me on bsky at danrdanny or linkedin (link at lab website)
David R. Liu @davidrliu
64K Followers 59 Following Professor at Harvard, Broad Institute, & HHMI. Our lab integrates chemistry & evolution to illuminate biology & enable new therapeutics. IG/Threads: @davidrliu1
Claudia Gonzaga-Jaure.. @cgonzagaj
2K Followers 815 Following Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Tweets/opinions are my own. 🇲🇽 @cgonzagaj 🐦🦣☁️🧵
Naomi Wray @WrayNaomi
2K Followers 310 Following
Steven Harrison @stevieharri
35 Followers 17 Following I study genes. I live in SLC. I once broke my arm from running backwards and slipping on a fruit roll up.
A/Prof Gina Ravenscro.. @Gianina_Natoli
2K Followers 3K Following NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
Sarah Vergult @SVergult
408 Followers 583 Following Assistant Professor at the Center for Medical Genetics Ghent, Ghent University - elucidating the genetics of rare diseases. Mom of two. Go and follow @FunGenLab
Alba Escalera Balsera @albaescalerabal
56 Followers 129 Following
The Genetics Society @GenSocUK
5K Followers 334 Following The Genetics Society was founded by William Bateson & Edith Rebecca Saunders in 1919 & is one of the oldest learned societies devoted to Genetics in the world.Today was a day in which I was super grateful for the people I encountered just being nice. Can be really tough having a kid who has muscular dystrophy. Just ordinary kindness from people rather than agro (strangers who have no idea what I’m carrying) was so precious. #Kindness
Excellent first annual meeting of the Wellcome PARADIGM team, paradigmgenomics.org. We shared some exciting science and had fun along the River Exe! @ensembl @deciphergenomic @tisimpson @HelenVFirth @PsyEpigenetics @jmarshlab @drjamesware @ExeterMed
Excited to finally have this preprinted: Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing by @pbcenturion and many. @CRGenomica @sangerinstitute biorxiv.org/content/10.110…
@nickywhiffin @platzer_k @quenchentin @ConnectRD @Solve_RD Great job @quenchentin. Congratulations, and thank you on behalf of the many families that are finally going to receive a diagnosis as a result of your work!
@nickywhiffin It was a great bonding experience! Hope you enjoy the rest of your stay in lovely Sicily - thx again for coming and sharing your science!
The odd sensation of returning to a place that was home. Good morning Cambridge ❤️
So in summary, @SteveLaurie42 & @Solve_RD not only helped us to make 1 new #RNU4-2 diagnosis, but motivated us to likely identify 2 more... 👌 🙏 I mean, when do we have the chance for re-analysis of only 18 bp & get these results? Likely not again... @ChristelDepienn 🙋♂️ 😉 /5
We likely made a new #RNU4-2 diagnosis at @hug_leipzig due to the help of @SteveLaurie42 & the awesome @Solve_RD infrastructure. 🙂 This case was not included in our own re-analysis of old data using @francois_leco example last week... 🥲 But wait... there is more... /1
Can we detect the #RNU4-2 recurrent variant in exome / panel data ? In a nutshell : YES ! (with some luck) 🧵1/5 @nickywhiffin @ChristelDepienn
Always an absolute pleasure and privilege to plan / attend ‘Genetics of NDV’ meeting in quaint Troina, Sicily! SUPERB science, people, food, wine, hospitality. This meeting is a true gem, as is Sicily. #raredisease #Genetics
That amazing paper you spent years on? That amazing breakthrough you had? Very likely you built this following the work of others (very few exceptions), just as others will build off yours. Science is a continuum. Want to leave a lasting legacy in science? Be generous & be kind.
Neil Gaiman’s story about imposter syndrome rewired my brain.
does anyone have any useful sentences that will change my life immediately upon being read?
Incredible example of how non-coding RNAs can bear important (and often unexpected) findings
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Sunset in Trieste, few min ago.
@nickywhiffin @Unique_charity @swynn_unique I would encourage the families to start a foundation and then encourage this foundation to join @RareEpilepsy, which is a consortium of roughly 100 different epilepsies.
@BeSHGenet @Bouckaert_M kicked off the parallel @BeSHGenet sessions with an exciting talk on #ASO therapy targeting a 5'UTR mutation of a retinal disease gene 🧬 👁️ @RAREMED1
Amazing story about how mutation in noncoding sequences can impact human health!
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
@nickywhiffin @quenchentin thanks for replying. We're having a look now in ~1500 children's cancers with WGTS, from #ZeroChildhoodCancer & will let you know if we find anything
This seems like a GREAT reason to know that the exome is defined by what's spliced, not what's translated.
But finally to highlight that this region, despite being within a highly conserved exon is not covered in ‘whole’ exome sequencing (as it is a non-coding RNA). This is a clear example of the power of genome sequencing to uncover novel diagnoses for patients. 9/9
@nickywhiffin Great work Nicky and team! Have you seen this region altered somatically?
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