Continuing this year's Seminar Series with two more fascinating talks. Collagen-I in rare diseases – new dynamical insights Dr Joan Chang, MRC CDA Research Fellow, Manchester Cell-Matrix Centre What can high resolution CryoEM do and what can it do for you? Dr Richard Collins, Head of EM Platform

Another fascinating Genomics and Rare Conditions Seminar, this time from Dr Tom Wright a Clinical Genetics trainee and NIHR Manchester BRC PhD candidate. Dr Wright presented his PhD research on 'Studying rare conditions using UK primary care electronic health records: past, present and future'

Our exciting 2026 Seminar Series has begun with a presentation from Dr Fred Chen, Director of Research for the Lions Eye Institute (Perth, Australia) discussing ‘The use of pathognomonic imaging signs in gene variant interpretation of IRDs and hereditary optic neuropathies’

Learning about 'Harnessing stem cell technologies and molecular phenotyping to better understand rare neurodegenerative diseases' This week we were lucky enough to host a double Seminar from Prof. Tristan McKay and Anna Ludlaim

This week’s seminar was delivered by Oliver Cooper on “How do variants in the same gene cause three distinct conditions?” Oliver is a PhD student in Genomic Medicine at the NIHR Manchester BRC and the University of Manchester.

Here in Manchester we are proud to be a part of the delivery of The Generation Study, which recently reached its thousandth participant in the region. A major milestone for this landmark national research initiative. research.cmft.nhs.uk/news-events/...

Pioneering study to identify rare conditions signs up 1000 babies in Manchester — Research & Innovation

A ground-breaking research study to help identify and treat rare genetic conditions in newborn babies has reached a major milestone with the recruitment of its 1,000th baby at Manchester University...

research.cmft.nhs.uk

This week's Genomics Seminar was on 'Neuropathology-driven drug discovery in metachromatic leukodystrophy (MLD)' delivered by Dr Daniel Erskine, The Faculty Theme Lead for Mental Health, Dementia and Neurodegeneration at Newcastle University.

Closing Soon: The NIHR Advertisement for Academic Clinical Fellowship (ACF) appointments is live and will close soon on Thursday 30th October 2025. The NIHR ACF is a clinical specialty training post in medicine that incorporates academic training Find out more here www.nihr.ac.uk/funding/2026...

Are you looking for a PhD and interested in the field of genetics and human diseases? The MRC Doctoral Training Partnership is a highly regarded competitive program at the University of Manchester that offers fully funded PhD studentships in biomedical, clinical, and health services research.

MRC Doctoral Training Partnership | Manchester Rare Conditions Centre

Are you looking for a PhD and interested in the field of genetics and human diseases, and wish to make a difference to people's lives world over? Do you want to do exciting science, and work and lea...

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Thank you to everyone who joined the Seminar from Dr Antony Adamson, Manager of The Genome Editing Unit at The University of Manchester.

Excellent talk and engaged audience for this week’s Seminar from Prof David Brough of The University of Manchester and the Geoffrey Jefferson Brain Research Centre

Today we are exhibitors at the Wythenshawe Hospital Annual Members' Meeting. Say hi and visit our stand in Seminar Room 3 on the ground floor of the Education and Research Centre. See you there!

Fascinating talk this week from Dr Pat McKiernan of Birmingham Children's Hospital on 'Liver transplant for metabolic disease'. Thank you to everyone who joined us in person and online.

Snapshot of today's online Seminar from Dr Susan Walker, Director of Translational Genomics at Genomics England entitled 'Increasing the diagnostic yield of genome sequencing for families with rare disorders through Diagnostic Discovery' which reached an audience across multiple UK hospitals.

Our MRCC Seminars take place each week on a Tuesday Lunchtime. For detailed information on the upcoming speakers and topics please visit our website: www.mrcc.org.uk/education-tr... We look forward to welcoming you soon!

This week we welcomed the first speaker our new MRCC Lunchtime Seminar Series Dr Duncan Henderson​​​​, Head of Innovation Discovery at The UoM Innovation Factory who delivered an insightful Seminar entitled ‘Talk To The TTO; developing research to the clinic usually needs a commercial push’

Share Your Story. Advance Research. If you or a family member has experience with a rare condition, your insights can drive vital research and improve care and outcomes for future patients. Join the We R Rare Patient, Family & Carer Steering Group! shorturl.at/z9mV9 #RareConditions #PatientVoice

We R Rare - Manchester Rare Conditions Centre

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Your Journey Matters. Your Voice Can Change Lives If you or a family member has experience with a rare condition your experience can guide research, improve care, and bring hope. Let’s build a better future Join the We R Rare Patient, Family & Carer Steering Group Go to shorturl.at/z9mV9 for info

Article summarising the the key themes identified at the ELSI Conference which look place earlier this year. Highlighting a range of different priorities and challenges of rare condition clinical trials.

A Day of Discussion: The ELSI Conference 2025

Authors: Emily Clarke, Tara Clancy, Amy Hunter, Faye Johnson, Simon Jones, Sinduja Manohar, Gracie Mellalieu, Yvette Mellalieu, Melissa McKie, Arti Patel, Peter Style, Shelley Wagon, Sarah Wynn Introd...

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📺 The recording of Episode 5 of the #ESHG Webinar Series "From Chromatinopathies to Episignatures" by Siddharth Banka (Manchester Rare Conditions Centre, @mft-imrare.bsky.social) is now on YouTube! Watch here: youtu.be/GMgWiGXq6mc?...

ESHG Webinar Series Episode 5 with Siddharth Banka

From Chromatinopathies to Episignatures Chromatin enables packaging of DNA into nuclei and is critical for many biological processes ranging from gene expression to cell division. Chromatin…

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Manchester scientists discover genetic condition that causes paralysis following mild infections www.manchesterbrc.nihr.ac.uk/news-and-eve...

Manchester Biomedical Research Centre | News & Events |

manchesterbrc.nihr.ac.uk

Manchester discovery of two new genetic disorders improves diagnoses for patients with neurodevelopmental conditions www.manchesterbrc.nihr.ac.uk/news-and-eve...

Manchester Biomedical Research Centre | News & Events |

manchesterbrc.nihr.ac.uk

📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04f 🔗https://mrcc.org.uk/news/2994/

#MDC2025 @ddysmo.bsky.social reflects, "MDC 23 was everything we hoped for in 1984—international, engaging, & full of insights into rare conditions. The complexity & emerging treatments exceeded expectations. I’m confident #MDC2025 will surpass it!" Submit your abstract here: shorturl.at/nnv1Y

20th Manchester Dysmorphology and Developmental Disorders Conference 16th-19th Nov 2025 - Manchester Rare Conditions Centre

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Last week's REOLUT,ELSI &Epi-Gen Rare conferences were a huge success!These projects,funded by Rare Disease Research UK Platform, aim to transform research & improve the lives of people who are directly or indirectly affected by Rare Diseases.Thank you to all involved www.mrcc.org.uk/research-inn...

📢Exciting news! Saint Mary's Hospital, Manchester, @mft-edi.bsky.social is now a recognized Rare Disease Collaborative Network (RDCN) for Ectodermal Dysplasia and related conditions! If you would like to find out more about RDCNs, check out: shorturl.at/dGGTB

NHS commissioning » Rare disease collaborative networks

Rare disease collaborative networks (RDCNs) are an important part of the NHS architecture initiated by NHS England and NHS Improvement to improve care and support for patients with rare diseases. Oper...

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Thank you Dr Videha Sharma, The University of Manchester, for your fantastic talk on Digital innovation & AI in healthcare–opportunities & challenges. Find out more here: Pharmacogenetics Clinical Decision Support Systems for Primary Care in England: Co-Design Study-https://lnkd.in/ea-3ctZS

In collaboration with The Whitworth Group & MRCC, comedians Jamie MacDonald, Jibrell Arshad, & Yvonne Hughes share their rare condition experiences through comedy in their podcast! Check it out lnkd.in/eKWJiFmM #RareComedy #RareConditions #RareDiseaseDay2025

On 15th June, Sarah Wynn & Unique hosted a heartwarming event for families affected by rare chromosome/gene disorders. Magic, crafts, & conversations created joy & connection. Thanks to all! Learn more about the amazing work Unique here: rarechromo.org #Community #RareDisorders #rarediseaseday2025

Thank you Dr Chaddock for your incredibly interesting talk on Polygenic Risk Score Analysis Identifies Apolipoprotein L1 as a Potential Predictor of Giant Cell Arteritis. If you're interested in learning more, check out the following paper shorturl.at/1GnUf