Oxford-Harrington Rare Disease Centre
@oxfordharrington.bsky.social
Partnership of the University of Oxford and Harrington Discovery Institute. Combining expertise in discovery science and therapeutics development to accelerate cures for rare diseases.
Visit us at: www.oxfordharrington.org
Visit us at: www.oxfordharrington.org
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Transforming Rare Disease Treatment | The Oxford-Harrington Rare Disease Centre
YouTube video by Oxford-Harrington Rare Disease Centre
www.youtube.com
🧬 95% of rare diseases have no treatment. This Rare Disease Day, we’re working to change that by accelerating breakthroughs—40 new treatments by 2034—through world-class research & drug development.
Learn more: tinyurl.com/2ab5zecf
#RareDiseaseDay #CareForRare www.youtube.com/watch?v=sKEf...
Learn more: tinyurl.com/2ab5zecf
#RareDiseaseDay #CareForRare www.youtube.com/watch?v=sKEf...
Delighted to join the MRC CoRE – Therapeutic Genomics annual meeting🧬
A highlight was hearing from people living with rare diseases about their experiences of diagnosis and clinical trials.
#TherapeuticGenomics #RareDisease #GeneticMedicine
A highlight was hearing from people living with rare diseases about their experiences of diagnosis and clinical trials.
#TherapeuticGenomics #RareDisease #GeneticMedicine
October 1, 2026 at 11:43 AM
Delighted to join the MRC CoRE – Therapeutic Genomics annual meeting🧬
A highlight was hearing from people living with rare diseases about their experiences of diagnosis and clinical trials.
#TherapeuticGenomics #RareDisease #GeneticMedicine
A highlight was hearing from people living with rare diseases about their experiences of diagnosis and clinical trials.
#TherapeuticGenomics #RareDisease #GeneticMedicine
On 25th of September, International Ataxia Awareness Day, we at the Oxford-Harrington Rare Disease Centre stand together with the global Ataxia community on the path towards developing innovative therapeutic approaches.
September 25, 2026 at 1:01 PM
On 25th of September, International Ataxia Awareness Day, we at the Oxford-Harrington Rare Disease Centre stand together with the global Ataxia community on the path towards developing innovative therapeutic approaches.
Progress in rare disease starts with people coming together.
We're delighted to welcome the rare disease community to the Oxford-Harrington Rare Disease Centre Symposium 2026 for two days of collaboration, shared learning and new ideas.
#RareDisease
We're delighted to welcome the rare disease community to the Oxford-Harrington Rare Disease Centre Symposium 2026 for two days of collaboration, shared learning and new ideas.
#RareDisease
September 23, 2026 at 1:55 PM
Progress in rare disease starts with people coming together.
We're delighted to welcome the rare disease community to the Oxford-Harrington Rare Disease Centre Symposium 2026 for two days of collaboration, shared learning and new ideas.
#RareDisease
We're delighted to welcome the rare disease community to the Oxford-Harrington Rare Disease Centre Symposium 2026 for two days of collaboration, shared learning and new ideas.
#RareDisease
Hope, determination and collaboration.
Our new video featuring Genie and her family, alongside Dr Joseph Buxbaum's work in ADNP syndrome, highlights what can happen when families, researchers and clinicians come together to drive progress.
buff.ly/HLHCZxQ
#RareDisease
Our new video featuring Genie and her family, alongside Dr Joseph Buxbaum's work in ADNP syndrome, highlights what can happen when families, researchers and clinicians come together to drive progress.
buff.ly/HLHCZxQ
#RareDisease
Advancing Treatments for ADNP Syndrome Through the Oxford-Harrington Rare Disease Centre
Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.
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September 22, 2026 at 5:31 PM
Hope, determination and collaboration.
Our new video featuring Genie and her family, alongside Dr Joseph Buxbaum's work in ADNP syndrome, highlights what can happen when families, researchers and clinicians come together to drive progress.
buff.ly/HLHCZxQ
#RareDisease
Our new video featuring Genie and her family, alongside Dr Joseph Buxbaum's work in ADNP syndrome, highlights what can happen when families, researchers and clinicians come together to drive progress.
buff.ly/HLHCZxQ
#RareDisease
We're delighted to have contributed to the Future for Rare Summit in London.
As the UK Rare Diseases Framework approaches its conclusion, it was an important opportunity to help shape what comes next for the rare disease community.
#RareDisease #RareDiseaseFramework
As the UK Rare Diseases Framework approaches its conclusion, it was an important opportunity to help shape what comes next for the rare disease community.
#RareDisease #RareDiseaseFramework
September 17, 2026 at 6:12 PM
We're delighted to have contributed to the Future for Rare Summit in London.
As the UK Rare Diseases Framework approaches its conclusion, it was an important opportunity to help shape what comes next for the rare disease community.
#RareDisease #RareDiseaseFramework
As the UK Rare Diseases Framework approaches its conclusion, it was an important opportunity to help shape what comes next for the rare disease community.
#RareDisease #RareDiseaseFramework
Scientists have created the largest molecular map of autism to date, identifying 1,800+ protein interactions involving 250+ autism-associated genes. The research could help identify shared pathways — and potential therapeutic targets across multiple genetic forms of autism.
🔗 buff.ly/CA8mHoK
🔗 buff.ly/CA8mHoK
September 11, 2026 at 3:29 PM
Scientists have created the largest molecular map of autism to date, identifying 1,800+ protein interactions involving 250+ autism-associated genes. The research could help identify shared pathways — and potential therapeutic targets across multiple genetic forms of autism.
🔗 buff.ly/CA8mHoK
🔗 buff.ly/CA8mHoK
For generations, Bonnie Woolston’s family lived with a rare, unnamed motor neuron disease. Today, we know it as ALS4.
2025 Oxford-Harrington Rare Disease Scholar Albert La Spada, MD, PhD, is advancing RNA-based research towards a potential disease-modifying therapy.
Read more: buff.ly/iPKsVmR
2025 Oxford-Harrington Rare Disease Scholar Albert La Spada, MD, PhD, is advancing RNA-based research towards a potential disease-modifying therapy.
Read more: buff.ly/iPKsVmR
September 2, 2026 at 1:36 PM
For generations, Bonnie Woolston’s family lived with a rare, unnamed motor neuron disease. Today, we know it as ALS4.
2025 Oxford-Harrington Rare Disease Scholar Albert La Spada, MD, PhD, is advancing RNA-based research towards a potential disease-modifying therapy.
Read more: buff.ly/iPKsVmR
2025 Oxford-Harrington Rare Disease Scholar Albert La Spada, MD, PhD, is advancing RNA-based research towards a potential disease-modifying therapy.
Read more: buff.ly/iPKsVmR
We're delighted to be included on Raremap, a new guide to the UK's rare disease research ecosystem developed by @lifearc.bsky.social and @rdrukhub.bsky.social.
Explore: 🔗 : buff.ly/yQx6pYT
#RareDiseases #RareDiseaseResearch
Explore: 🔗 : buff.ly/yQx6pYT
#RareDiseases #RareDiseaseResearch
July 22, 2026 at 4:04 PM
We're delighted to be included on Raremap, a new guide to the UK's rare disease research ecosystem developed by @lifearc.bsky.social and @rdrukhub.bsky.social.
Explore: 🔗 : buff.ly/yQx6pYT
#RareDiseases #RareDiseaseResearch
Explore: 🔗 : buff.ly/yQx6pYT
#RareDiseases #RareDiseaseResearch
🧬 #RareDiseaseNews
Newborn screening for #SpinalMuscularAtrophy (#SMA) will begin rolling out across England from October 2026, helping babies access diagnosis and treatment before symptoms appear.
A significant step forward for early diagnosis and #raredisease care.
buff.ly/xowFgpj
Newborn screening for #SpinalMuscularAtrophy (#SMA) will begin rolling out across England from October 2026, helping babies access diagnosis and treatment before symptoms appear.
A significant step forward for early diagnosis and #raredisease care.
buff.ly/xowFgpj
July 16, 2026 at 11:50 AM
🧬 #RareDiseaseNews
Newborn screening for #SpinalMuscularAtrophy (#SMA) will begin rolling out across England from October 2026, helping babies access diagnosis and treatment before symptoms appear.
A significant step forward for early diagnosis and #raredisease care.
buff.ly/xowFgpj
Newborn screening for #SpinalMuscularAtrophy (#SMA) will begin rolling out across England from October 2026, helping babies access diagnosis and treatment before symptoms appear.
A significant step forward for early diagnosis and #raredisease care.
buff.ly/xowFgpj
Today is #CASKAwarenessDay.
When Sarah was diagnosed with a rare CASK-related disorder, her family was told there were no disease-modifying treatments. Her mother Laura founded @caskresearch.bsky.social to bring awareness and hope to the CASK community.
buff.ly/LQO4J9A
When Sarah was diagnosed with a rare CASK-related disorder, her family was told there were no disease-modifying treatments. Her mother Laura founded @caskresearch.bsky.social to bring awareness and hope to the CASK community.
buff.ly/LQO4J9A
July 15, 2026 at 12:38 PM
Today is #CASKAwarenessDay.
When Sarah was diagnosed with a rare CASK-related disorder, her family was told there were no disease-modifying treatments. Her mother Laura founded @caskresearch.bsky.social to bring awareness and hope to the CASK community.
buff.ly/LQO4J9A
When Sarah was diagnosed with a rare CASK-related disorder, her family was told there were no disease-modifying treatments. Her mother Laura founded @caskresearch.bsky.social to bring awareness and hope to the CASK community.
buff.ly/LQO4J9A
We welcome the UK government's announcement that the National Institute for Health and Care Research (NIHR) has joined the European Rare Diseases Research Alliance (ERDERA).
Read more: buff.ly/mDuFotc
#RareDisease #RareDiseaseResearch #ERDERA
Read more: buff.ly/mDuFotc
#RareDisease #RareDiseaseResearch #ERDERA
July 8, 2026 at 3:55 PM
We welcome the UK government's announcement that the National Institute for Health and Care Research (NIHR) has joined the European Rare Diseases Research Alliance (ERDERA).
Read more: buff.ly/mDuFotc
#RareDisease #RareDiseaseResearch #ERDERA
Read more: buff.ly/mDuFotc
#RareDisease #RareDiseaseResearch #ERDERA
Great to be part of #GERS2026 last week.
At the Genomics England Research Summit, OHC Genomics Lead, Stephan Sanders shared how the MRC CoRE in Therapeutic Genomics and partners are building new pathways to accelerate genetic medicines.
At the Genomics England Research Summit, OHC Genomics Lead, Stephan Sanders shared how the MRC CoRE in Therapeutic Genomics and partners are building new pathways to accelerate genetic medicines.
July 3, 2026 at 1:20 PM
Great to be part of #GERS2026 last week.
At the Genomics England Research Summit, OHC Genomics Lead, Stephan Sanders shared how the MRC CoRE in Therapeutic Genomics and partners are building new pathways to accelerate genetic medicines.
At the Genomics England Research Summit, OHC Genomics Lead, Stephan Sanders shared how the MRC CoRE in Therapeutic Genomics and partners are building new pathways to accelerate genetic medicines.
We're pleased to welcome Professor Isidro Cortés Ciriano isidrolauscher.bsky.social as the first Little Princess Trust Professor of Paediatric Oncology at @ox.ac.uk, @paediatrics.ox.ac.uk and Cancer Theme Lead at the OHC!
Read more: buff.ly/Sg5mWou
#RareDisease #ChildhoodCancerResearch
Read more: buff.ly/Sg5mWou
#RareDisease #ChildhoodCancerResearch
July 1, 2026 at 3:06 PM
We're pleased to welcome Professor Isidro Cortés Ciriano isidrolauscher.bsky.social as the first Little Princess Trust Professor of Paediatric Oncology at @ox.ac.uk, @paediatrics.ox.ac.uk and Cancer Theme Lead at the OHC!
Read more: buff.ly/Sg5mWou
#RareDisease #ChildhoodCancerResearch
Read more: buff.ly/Sg5mWou
#RareDisease #ChildhoodCancerResearch
As a founding partner, we welcome the announcement that the Rare Therapies Launch Pad (#RTLP) will become part of @lifearc.bsky.social in a bid to accelerate the development and access of individualised medicines for people living with rare diseases.
Read more🔗: buff.ly/tfadvK6
Read more🔗: buff.ly/tfadvK6
June 24, 2026 at 4:32 PM
As a founding partner, we welcome the announcement that the Rare Therapies Launch Pad (#RTLP) will become part of @lifearc.bsky.social in a bid to accelerate the development and access of individualised medicines for people living with rare diseases.
Read more🔗: buff.ly/tfadvK6
Read more🔗: buff.ly/tfadvK6
At the Rare Diseases Network Event at Brunel University London, members of the FA Alliance at Oxford shared updates from six philanthropically funded projects focused on developing new therapeutic approaches for #FriedreichsAtaxia.
@ox.ac.uk @kavli.ox.ac.uk
@ox.ac.uk @kavli.ox.ac.uk
June 19, 2026 at 1:21 PM
At the Rare Diseases Network Event at Brunel University London, members of the FA Alliance at Oxford shared updates from six philanthropically funded projects focused on developing new therapeutic approaches for #FriedreichsAtaxia.
@ox.ac.uk @kavli.ox.ac.uk
@ox.ac.uk @kavli.ox.ac.uk
Stay up to date with the latest news from the Oxford-Harrington Rare Disease Centre (OHC). Our quarterly newsletter includes science news, programme updates, event announcements, and highlights from across the OHC community.
Subscribe to our mailing list: buff.ly/khXMpAl
Subscribe to our mailing list: buff.ly/khXMpAl
June 9, 2026 at 12:37 PM
Stay up to date with the latest news from the Oxford-Harrington Rare Disease Centre (OHC). Our quarterly newsletter includes science news, programme updates, event announcements, and highlights from across the OHC community.
Subscribe to our mailing list: buff.ly/khXMpAl
Subscribe to our mailing list: buff.ly/khXMpAl
As highlighted by Brandon Carrus in his discussion with the Chair of the Oxford-Harrington Advisory Council, David Cameron, scientific breakthroughs only change lives when they reach patients. 🔗 buff.ly/nLZmtdI
#RareDisease #OxfordHarrington
#RareDisease #OxfordHarrington
June 4, 2026 at 11:56 AM
As highlighted by Brandon Carrus in his discussion with the Chair of the Oxford-Harrington Advisory Council, David Cameron, scientific breakthroughs only change lives when they reach patients. 🔗 buff.ly/nLZmtdI
#RareDisease #OxfordHarrington
#RareDisease #OxfordHarrington
🧬 We're pleased to share Genes, Brains, and Breakthroughs, a new educational animation series helping make topics like #genetics, #neurodevelopmentaldisorders, #rarediseases, and emerging therapies more accessible.
🔗 www.youtube.com/@genebrainbr...
🔗 www.youtube.com/@genebrainbr...
May 29, 2026 at 12:49 PM
🧬 We're pleased to share Genes, Brains, and Breakthroughs, a new educational animation series helping make topics like #genetics, #neurodevelopmentaldisorders, #rarediseases, and emerging therapies more accessible.
🔗 www.youtube.com/@genebrainbr...
🔗 www.youtube.com/@genebrainbr...
We welcome the @mhragovuk.bsky.social landmark plans to accelerate the development and approval of treatments for rare diseases.
For the 3.5M people in the UK living with a rare condition, many without an approved treatment, faster pathways for innovative therapies could be transformative.
For the 3.5M people in the UK living with a rare condition, many without an approved treatment, faster pathways for innovative therapies could be transformative.
Rare diseases affect 3.5 million people in the UK, yet most still have no approved treatment.
Prof Matthew Wood has welcomed new government plans designed to speed up access to cutting-edge therapies for patients and families living with rare conditions ⬇️
https://bit.ly/4dJdQBB
Prof Matthew Wood has welcomed new government plans designed to speed up access to cutting-edge therapies for patients and families living with rare conditions ⬇️
https://bit.ly/4dJdQBB
May 26, 2026 at 2:52 PM
We welcome the @mhragovuk.bsky.social landmark plans to accelerate the development and approval of treatments for rare diseases.
For the 3.5M people in the UK living with a rare condition, many without an approved treatment, faster pathways for innovative therapies could be transformative.
For the 3.5M people in the UK living with a rare condition, many without an approved treatment, faster pathways for innovative therapies could be transformative.
We are proud to share a transformational $10M investment from Dee and Jimmy Haslam to accelerate research and drug development for chronic lymphocytic leukaemia (CLL) and other rare blood cancers through the Oxford-Harrington Rare Disease Centre.
Read more: tinyurl.com/y6nwj5b2
Read more: tinyurl.com/y6nwj5b2
Dee and Jimmy Haslam Make $10 Million Transformational Investment in Blood Cancer Research and Treatments at the Oxford-Harrington Rare Disease Centre
The Oxford-Harrington Rare Disease Centre has received $10 million in transformational support from Dee and Jimmy Haslam to fuel research and drug development for chronic lymphocytic leukaemia (CLL)
tinyurl.com
May 7, 2026 at 4:05 PM
We are proud to share a transformational $10M investment from Dee and Jimmy Haslam to accelerate research and drug development for chronic lymphocytic leukaemia (CLL) and other rare blood cancers through the Oxford-Harrington Rare Disease Centre.
Read more: tinyurl.com/y6nwj5b2
Read more: tinyurl.com/y6nwj5b2
At the @rdrukhub.bsky.social 3rd Annual Conference, the theme “The Power of Collaboration,” emphasised how partnerships between organisations - @lifearc.bsky.social, @geneticallianceuk.bsky.social, patients and carers, can build a stronger rare disease ecosystem for #RareDisease drug development.
April 28, 2026 at 3:23 PM
At the @rdrukhub.bsky.social 3rd Annual Conference, the theme “The Power of Collaboration,” emphasised how partnerships between organisations - @lifearc.bsky.social, @geneticallianceuk.bsky.social, patients and carers, can build a stronger rare disease ecosystem for #RareDisease drug development.
This weekend, Oxford’s “Plodding Professor” takes on the London Marathon for Cure DHDDS to help raise awareness for an ultra‑rare neurological disorder, with wider research implications for conditions such as Parkinson’s and Alzheimer’s.
Good luck, Prof Edwards!
justgiving.com/page/ploddin...
Good luck, Prof Edwards!
justgiving.com/page/ploddin...
Plodding Professor for Cure DHDDS (@ploddingprofessor)
Help James Edwards raise money to support Cure DHDDS
justgiving.com
April 22, 2026 at 2:34 PM
This weekend, Oxford’s “Plodding Professor” takes on the London Marathon for Cure DHDDS to help raise awareness for an ultra‑rare neurological disorder, with wider research implications for conditions such as Parkinson’s and Alzheimer’s.
Good luck, Prof Edwards!
justgiving.com/page/ploddin...
Good luck, Prof Edwards!
justgiving.com/page/ploddin...
This #AutismAwarenessMonth, we’re highlighting research at OHC advancing new approaches to neurodevelopmental disorders.
Work led by OHC Co-Director Matthew Anderson is helping define the biological mechanisms underlying autism to enable more precise, targeted therapeutic strategies. #Neuroscience
Work led by OHC Co-Director Matthew Anderson is helping define the biological mechanisms underlying autism to enable more precise, targeted therapeutic strategies. #Neuroscience
April 17, 2026 at 3:39 PM
This #AutismAwarenessMonth, we’re highlighting research at OHC advancing new approaches to neurodevelopmental disorders.
Work led by OHC Co-Director Matthew Anderson is helping define the biological mechanisms underlying autism to enable more precise, targeted therapeutic strategies. #Neuroscience
Work led by OHC Co-Director Matthew Anderson is helping define the biological mechanisms underlying autism to enable more precise, targeted therapeutic strategies. #Neuroscience
As an Oxford-Harrington Rare Disease Scholar, Dr. Jacquelyn Bower is developing an AAV gene therapy for uveal melanoma, a rare eye cancer that often leads to blindness.
Her approach targets a key mutation driving tumor survival, with potential to extend life and preserve vision.
Her approach targets a key mutation driving tumor survival, with potential to extend life and preserve vision.
April 10, 2026 at 1:36 PM
As an Oxford-Harrington Rare Disease Scholar, Dr. Jacquelyn Bower is developing an AAV gene therapy for uveal melanoma, a rare eye cancer that often leads to blindness.
Her approach targets a key mutation driving tumor survival, with potential to extend life and preserve vision.
Her approach targets a key mutation driving tumor survival, with potential to extend life and preserve vision.
Last week, at the LifeArc Centre for Rare Respiratory Diseases event, our Director and CSO, Prof Matthew Wood, joined Volker Straub and Jason Mellad, in a panel chaired by Samantha Walker, to discuss how to accelerate the path from rare disease drug discovery to patient impact.
April 2, 2026 at 3:58 PM
Last week, at the LifeArc Centre for Rare Respiratory Diseases event, our Director and CSO, Prof Matthew Wood, joined Volker Straub and Jason Mellad, in a panel chaired by Samantha Walker, to discuss how to accelerate the path from rare disease drug discovery to patient impact.