Mendelian Blog.

Be the first to know more about our latest developments in the rare diseases field. Here you will find all the latest news about our tool, its development, and relevant information about rare diseases and the people involved in them.

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Speaker Series - Leber Congenital Amaurosis

In this month’s speaker series, we spoke with Silvia Cerolini, mum to Vicky, who was born with Leber Congenital Amaurosis (LCA), a rare disease causing congenital blindness.

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Speaker Series - GPX4 Gene

We were fortunate enough to speak with Sanath in our latest Speaker Series in March. Sanath is the father to Raghav, who was born with an ultra-rare disease caused by a mutation in the GPX4 gene.

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Speaker Series - Adrenoleukodystrophy (ALD) Disease

We were fortunate enough to speak with Taylor for our latest Speaker Series in February. Taylor, who is a patient advocate for adrenoleukodystrophy (ALD) disease lives in New Jersey and told us about the support network she has created, Remember The…

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A Day In The Life Of...Sneha Shankar

Introducing Sneha, our Health Economist

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A Day In The Life Of...Holly Ward

Introducing Holly, our Head of Operations

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Speaker Series - Behçet's Disease

Su, a freelance graphic designer, has been suffering with Behçet’s disease since childhood. Su became aware of Mendelian through Cambridge Rare Diseases Network and we were fortunate enough to speak with Su as part of Mendelian's Speaker Series.

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A Day In The Life Of...Hadley Mahon

Introducing Hadley, our Head of Commercial Partnerships.

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A Day In The Life Of...Dr Pradeep Ravichandran

Each month, we interview a member of the team about what they do at Mendelian.

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Regulation - Far More Than A Tick-Box

Regulation is a front-and-centre priority for us at Mendelian, in many ways as important as demonstrating real-world effectiveness.

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Speaker Series - Niemann-Pick Disease Type C

Debbie’s daughter, Rachael, was diagnosed with the rare condition Niemann-Pick Type C (NP-C) at the age of 26. We were fortunate to have Debbie speak to us and share her experiences as both a parent and a carer, as part of Mendelian’s Speaker Series.

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Mendelian & Modality NHS Partnership

We are pleased to announce the launch of the UK’s largest ever NHS rare disease diagnosis programme between Mendelian and Modality NHS Partnership.

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Retrospective analysis suggests MendelScan saves 3.5 years of medical and financial burden in Behçets disease

Mendelian Health Economist, Sneha Shankar, provides an insightful analysis of how MendelScan can save years of medical and financial burden, specifically focusing on Behçets disease

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Autism Spectrum Disorders: Definition and top 150+ rare diseases related to them.

This time we focus on Autism Spectrum Disorders and highlight the top 150 rare diseases related to them as part of our commitment to improving the diagnostic odyssey for those affected by rare diseases .

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Why we do what we do?

At Mendelian, we build tools to help doctors find rare disease patients faster and diagnose them earlier. Learn what are key facts most people miss about rare diseases, and how we take care of them to improve the lives of rare disease patients.

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We are in the 10 innovators selected for the HealthTech Innovation of the Year

HealthTech Innovation Challenge will once again bring startups, life sciences companies, and healthcare organizations together to tackle world’s biggest health issues, and we have been selected as one of the top 10 finalists.

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Eastern AHSN and Mendelian working together to help to help identify undiagnosed patients

Our new tool is being established in the East of England to help identify undiagnosed patients across a broad spectrum of rare diseases, getting them the treatment they need sooner.

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Technology that is changing the face of first line healthcare

As different technologies unite to transform the way things are done, from mobile technology, artificial intelligence (AI) and other emerging technologies in healthcare, this post explores six human health and medicine evolution examples that are…

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Mendelian at Mayor of London’s TechInvest

We will be attending TechInvest 6: Health Tech, the next event in the Mayor of London’s TechInvest programme focused on entrepreneurs using data-driven and digital technologies to revolutionise health and care across London.

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Empowering doctors in rare disease diagnosis

Learn what is our technological ‘endgame’, and why our tools easen the pain in rare disease diagnosis. Discover why we are certainly just scratching the surface of what technology can do to accelerate any diagnosis.

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Mendelian receives over €570k for its rare disease diagnostics by Innovate UK

We have been granted over €570k from Innovate UK to build our solutions that will assist GPs in identifying NHS patients with rare or hard to diagnose conditions and diseases.

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