Emily Clarke (she/her) 🧬🦮 @TalkingGenes
Registered Genetic Counsellor @GenePeopleUK. working in the voluntary sector to support the Genetic community. @theAGNC EDI Sub-committee member. talkinggenes.co.uk Sheffield UK Joined November 2015-
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There are 13 different types of Ehlers-Danlos syndrome (EDS), each with distinct features and risks. In this video, Dr. Clair Francomano, medical geneticist, clearly explains the key differences between EDS types, such as classical EDS, vascular EDS, and kyphoscoliotic EDS. Watch now: youtu.be/w62qVQvznYM?si…
Discover how Dr. Jackie Cook and Dr. Frances Elmslie are pushing to streamline genomics adoption in the NHS. The article covers the push for faster rare disease diagnosis, the need for greater clinical literacy, and the role of AI and new technologies in this exciting field. rarerevolutionmagazine.com/rare-insider/g… #GenomicsInTheNHS #RareDiseaseUK #NHSGenomics #AIinHealthcare #TuberousSclerosis #DiagnosticOdyssey
What do we mean by de-identified data? Georgia Chan, Senior Data Wrangler at Genomics England, joins our latest Genomics 101 episode to explain. These bitesize podcast episodes explain genomics terms. Listen on your favourite podcast app or on our website: ow.ly/ukzu50YvH5Z
🚨Calling all Nurses and Healthcare Practitioners 🚨 On Tuesday 24th March, join Diogo Gomes ANP for a rapid introduction to genetic haemochromatosis, it's symptoms, treatment and ongoing care. haemochromatosis.org.uk/Event/an-intro…
The Infant Movement Project, iMove, explores the early development of repetitive motor behaviours in infants aged 6-12 months with rare genetic syndromes. For further information please contact Rachel Martlew at [email protected].
🧬💙 Celebrating #GRIN2BAwarenessWeek with @Grin2bFoundation, @GRINEurope & @CureGRIN! 211 participants with #GRIN2B disorder are in #SimonsSearchlight. 📚 Resources, data & advocacy support → bit.ly/SimonsSearchli…
LAUNCHING TODAY: Our new information sheets help to explain inequity in the context of rare conditions. Download and share them today: ow.ly/lSyI50YmtLu #RareDiseaseDay2026 #RDD2026 #Rarequity
“When completed, the Generation Study will generate first-of-its-kind evidence that could help to change the future of genetic health.” Read our Mediaplanet UK Rare Disease Day campaign article online and in today’s copy of the Guardian: healthawareness.co.uk/rare-diseases/… @MediaplanetUK
The latest Action Plan to implement the UK Rare Diseases Framework in England has just been published. Find out more geneticalliance.org.uk/news/latest-en…
This #RareDiseaseDay, we’re highlighting how open data sharing supports diagnosis, research, and families living with rare conditions. Watch to find out how access to rare data through DECIPHER can help families better understand their children’s rare conditions.
Happy #RareDiseaseDay! We are joining @GeneticAll_UK and their 220+ members to call for an equitable future for everyone living with rare conditions. Add your voice to ours by sharing geneticalliance.org.uk/rdd26
Rare Disease Day is one week today! 1 in 4 people wait at least three years for a rare condition diagnosis. You can help by joining us in raising awareness and sharing the report far and wide Coming #RareDiseaseDay 28.02.26
Familial hypercholesterolaemia (FH) remains underdiagnosed, despite being a common cause of premature coronary artery disease. This study shows that genetic cascade testing can be delivered effectively in primary care. nature.com/articles/s4143…
We join with representatives from the UK cell and gene community and have signed an open letter from parliamentarians, patient organisations, and industry partners regarding the importance of strengthened national leadership for cell and gene therapies.
As members of the @DisabledChildrensPartnership (DCP), we know how important it is that the voices of disabled young people are heard. The DCP want to understand your experiences, challenges, and ideas so we can push for real change together. survey.alchemer.eu/s3/90995824/CO…
As we approach Rare Disease Day, we're sharing our Genomics 101 blog that explores what the diagnostic odyssey is and the impact it can have on people and families: ow.ly/jCU250Yi0kk #RareDiseaseDay
The ESHG recommendations on cascade testing to identify relatives at high genetic risk suggest that an active approach, such as directive counselling, is appropriate in cases of high risk of serious, avoidable harm. @eshgsociety nature.com/articles/s4143…
It has been a busy start to the year and Gene People have been in the thick of things. If you know of an event that you think Gene People should be represented at, please do get in touch and let us know!
This week as it's #fundraisingweek, we're highlighting Tom, our 2026 TCS London Marathon Runner. Tom says, "Gene People caught my eye because my son Rory was born with a rare genetic condition" Please support Tom's fundraising! 2026tcslondonmarathon.enthuse.com/pf/tom-sayer?u… #londonmarathon
Unique @Unique_charity
8K Followers 2K Following Unique supports and informs anyone born w/a rare chromosome or gene disorder, their families and carers. Eurordis Patient Organisation Award winner.
NHS Genomic Medicine ... @NHSgms
7K Followers 783 Following Information for and from the NHS Genomic Medicine Service 🧬 #Genomics. https://t.co/MizyyMpX02…
Beacon for Rare Disea... @RareBeacon
12K Followers 10K Following Beacon is a UK-based charity that is building a united rare disease community with patient groups at its heart. Previously known as Findacure.
Genomics Education @genomicsedu
22K Followers 2K Following NHS England's Genomics Education Programme. Providing knowledge, skills and experience in #genomics #NHSgms #genomes100K #NHS #GenomicsConversation
Vishakha Tripathi @VishTrip_11
678 Followers 936 Following Genetic Counsellor, ex-medic ❤️ Innovation; Leadership & Strategy. Equality matters. Founder: DNA_Connect🐴 lover; ⚽️ fanatic. Views my own not my employers.
Professor Dame Sue Hi... @CSOSue
11K Followers 7K Following I am the Chief Scientific Officer for England and the Senior Responsible Officer for Genomics in the NHS
North Thames Genomic ... @NorthThamesGMS
1K Followers 711 Following Working to provide equitable access to genomic testing and innovation for people across North London, Hertfordshire and Mid and South Essex.
Dr Jane Tiller @JaneMTiller
786 Followers 811 Following Dr by PhD. Ethical, Legal & Social Adviser, Public Health Genomics, Monash University & Senior Project Coordinator, Aust Genomics #ethics #genetics
SWAN UK (syndromes wi... @SWAN_UK
8K Followers 4K Following SWAN UK (syndromes without a name) is run by @GeneticAll_UK, offering support and information to families of children with undiagnosed genetic conditions.
Amanda Pichini @AmandaPichini
1K Followers 856 Following Clinical Director @GenomicsEngland 🧬Genetic counsellor 🧬 proud Canadian 🍁 loves a good food market 🧺 own views
Dr Tatiane Yanes @TatYanes4
1K Followers 1K Following Genetic counsellor @childhealthqld and Research Fellow at Integrating Genomics into Medicine Group @IGM_group; she/her 🇦🇺🇧🇷
theredgc @theredgc1
956 Followers 638 Following I’m a genetic counsellor in Perth currently doing a PhD in the area of prenatal genetics. (views my own, she/her)
Stephanie White @_Steph__White_
500 Followers 743 Following Lecturer at @uts_gc | PhD | Clinical Genetic Counsellor | Oly Lifting Enthusiast | She/Her | Tweets My Own
Rebecca Middleton @RebeccaMiddle16
797 Followers 3K Following Founder & CEO, HBA Support | Vice Chair Participant Panel at Genomics England | Managing Director, Middleton Davies@middlet0ndavies, @hba_support | Views Own
Effie Parks @OnceUponAGene
7K Followers 4K Following Rare Disease Advocate | Award Winning Podcaster | Speaker | Captain Connection | RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
Genetic Alliance UK @GeneticAll_UK
15K Followers 2K Following National charity working for everyone affected by genetic, rare and undiagnosed conditions. We run the campaign Rare Disease UK and support network @SWAN_UK.
Cambridge Rare Diseas... @camraredisease
8K Followers 6K Following Improving outcomes for those living with rare conditions. Also find us at: https://t.co/kZWskP9Ojj
@chris_wigley @chris_wigley
5K Followers 2K Following COO @physicsX Formerly: CEO at Aneira Health; CEO @GenomicsEngland; COO at @quantumblack; Partner @mckinsey; UK Foreign Service; @bbc. Views are personal.
Dr Ali Kay 🧬📚�... @AliMakesHay
2K Followers 2K Following Health experiences researcher at Oxford University and @CPMoxford + volunteer for Muscular Dystrophy UK. Reading, running or hiking.
The Festival of Genom... @FoGenomics
5K Followers 4K Following The Festival of Genomics, Biodata & AI is returning to Boston on June 3rd- 4th 2026.
Sami @spinelisami
0 Followers 43 Following
hmorsy @hmorsy80
161 Followers 741 Following Post doc | Neurogenetics @IonSynapse @ICGNMD | Bioinformatics @UCLION🇬🇧 | Clinical Geneticist 🇪🇬 | MD, PhD
Avery Logan @AveryLogan83403
42 Followers 3K Following
skrebs @sherkrebs01
0 Followers 501 Following
Park Jimmy @ParkJimmy82
4 Followers 118 Following
International Achondr... @ACHONforum
160 Followers 132 Following A free online resource specialising in achondroplasia education and research. New website now live! #IAF
Alan Thomas @alanROYGBIV
3K Followers 2K Following Founder of @Ataxia_and_Me to support #Ataxia (Rare Neuro. condition) from the #patient view. PASSIONATE about Inclusion for #disabled citizens - views are mine
Carole Sian @scrufton73
2K Followers 3K Following @FibroFlutters #patientspeaker #ChronicIllness #ChronicPain #hEDS #MentalHealth #IBS #rare #ZebraStrutters #patientengagement MYH11 & TNFRSF13B gene mutations
martín @mar_tici_a
716 Followers 5K Following Amante de la genética y del método de casillas. You're enough or maybe not.
Children's Hyperinsul... @CHCharityUK
684 Followers 1K Following Support Group, Fun Days, Conferences, Resources, Advocacy, Raise Awareness, Support Research. Supporting Hyperinsulinism families across UK & Ireland
GoPI3Ks (Genetic Over... @GoPI3Ks
568 Followers 355 Following A UK registered charity (1176289) for those living with PROS (PIK3CA Related Overgrowth Spectrum)
Rareatives @rareatives
114 Followers 493 Following Share Your Rare | Amplifying Rare Disease Voices 🎙️ 📖 Sharing stories from the 1 in 10 🧬 New patient-led publication #RareDisease #PatientVoicesMatter
Vimal Kushwaha @VimalKushw48714
669 Followers 1K Following
Keyline Care Supporte... @KeylineCare
15 Followers 806 Following Keyline Care provides personalised care services to individuals with complex needs, young people (18+) in their own homes. 📞 0115 648 6713
Kaustubh Adhikari @kaustubhad
394 Followers 312 Following Senior Lecturer of Statistics at the Open University. Formerly statistical geneticist at University College London. @kaustubhad.bsky.social
Reza Maroofian @RMaroofian
541 Followers 918 Following Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Neurogenetics & Genomic Medicine.
Aïcha Boughalem @chalem2
25 Followers 224 Following Human Medical Geneticist, Cytogeneticist Pharmacist Biochemist
Medico-legal Magazine @MedicolegalMag1
211 Followers 716 Following A quarterly publication, est. 2016, designed to share information about the fast-moving UK medico-legal industry, for both medical expert witnesses and lawyers.
Jen @tweetyjennyfer
12 Followers 892 Following
Prof. Dhavendra Kumar... @GenomeKumar
741 Followers 596 Following CEO/Medical Director- The Genomic Medicine Foundation UK; Consultant Clinical Geneticist; Cardiovascular Genomics and Genomic & Precision Medicine
Robert Micheal @robert_mich8308
287 Followers 3K Following Remember that happiness is a way of travel, not a destination.❤️🎶🦅💎💕😘
Gauri Krishna @AdvancedMetGen
20 Followers 198 Following Genetic evaluation/diagnoses/Personalised treatment plans/Nutritional counseling/R&D/Patient Education
Amy Oliver @AmyOliv22174968
2 Followers 204 Following
Dr Shivalaxmi Manchuk... @DrShivalaxmi
0 Followers 15 Following
ana @anasajoo
1K Followers 5K Following Genetic counsellor & Londoner. Interested in science, ethics, philosophy, kindness & humour. Opinions my own. CDN, eh (she/her)
راوية المبا... @Rawyaalmubark
126 Followers 3K Following اذا العناية لاحظتك عيونها...نِم فالمخاوف كلهن أمانُ
Bloopos @BlooposyJly
47 Followers 2K Following
Tesla @x_tesla17687
160 Followers 7K Following Electrifying the future with Tesla’s cutting-edge innovation while navigating the intersection of sustainability and politics
Anatomy Online @anatomyonlineio
13 Followers 320 Following The complete applied anatomy revision coach. Created by surgeons, anatomists and neuroscientists to optimise your learning.
Sorenewh @SorenewhJ1ZT18
39 Followers 926 Following 3 years of HR experience, focused on performance and compensation management, motivating employees to achieve goals.
Darrol Baker @darrolb
248 Followers 1K Following Clinical Genomics, AI, Precision Medicine, WHGS, Blockchain, Inner City STEM
Kasia Pirog @KasiaPirog1
573 Followers 1K Following Geneticist, cartilage biologist, mountaineer. Senior Lecturer at Newcastle University. All views my own.
Tom Billins @TomBillins
168 Followers 433 Following Research Governance and Ethics Senior Manager @healthinnoveast. Cyclist. Spurs fan. Londoner. Tweets are my own.
SCN1B @b_scn1
931 Followers 5K Following Sodium channel 🧬 Epilepsy 🧬 Scn1b news & awareness 🧬 Sharing and re-tweeting SCN1B info 🧬
Cure MFM13 @curemfm13
28 Followers 111 Following The only patient advocacy group focused on MFM13. On a mission to find treatments and cures, raise awareness and build a strong community.
Mandaem @amandaemkelly
466 Followers 2K Following Parent carer, governor, journalist and previous small charity CEO. Teacher of English.
nirian paez @nidia_71551
223 Followers 409 Following
Universal Home & Heal... @universalhht
240 Followers 7K Following We provide professional services, high quality domiciliary care, a trusted recruitment agency, and safe, reliable school run transport London and Hertfordshire
Rachel @Rachelina16
898 Followers 2K Following #MKD Patient | Founder & Chair of RACC-UK | Patient Advocate | Member of @RheumatologyUK @britsocimm | Views are my own
Russellsilversyndrome... @Ladythumbelina1
87 Followers 331 Following I have a rare type of dwarfism called Russell Silver Syndrome. I blog about my life. I also have launched a podcast https://t.co/mxkLVSvYXW
Maine.liberation @freedomforMaine
2K Followers 2K Following God, loving wife, beautiful kids. Amazing family. #Maine
Dawn M Torrence Irela... @cdhwings
1K Followers 4K Following Congenital Diaphragmatic Hernia Patient Advocate, Public Speaker, Long Covid, Author, Charity Founder, Angel Mom, Wife, trying to live unselfishly.You might like
