Rare Disease Day 2021 blog: West syndrome – a rare epilepsy as seen through the eyes of a father

My daughter was born prematurely and at around 8 months old, she seemed to regress in her development and started making strange jack-knife movements at certain times of the day. She was diagnosed at Addenbrooke’s hospital in Cambridge with a rare and severe form of epilepsy called West syndrome. West syndrome diagnosis is based around the child having very specific and irregular brainwaves, developmental regression and seizures. Luckily, our clinician was actively involved in a clinical trial for treating West syndrome.

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LifeArc provides £5 million funding to increase understanding of the role of genetic risk factors in patient response to COVID-19

Medical research charity, LifeArc, announces today that it is providing £5 million funding to support the work of the GenOMICC COVID-19 Study, led by the GenOMICC consortium in partnership with Genomics England. The study, launched in May 2020, is using genomics to investigate why some people are affected more severely by COVID-19, and increase our understanding about the disease.

GenOMICC is a global collaboration of doctors and scientists working together to understand and treat serious illnesses,

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International Day of Women and Girls in Science: Vivienne Parry celebrates geneticist Barbara McClintock

Thinking about Women in STEM this week has made me want to introduce Barbara McClintock to you. She brings together two parts of my life, my undergraduate years taking genetics and my time at Genomics England. She may not be very familiar to many of you, yet what she discovered underpins everything we do here.

She was the first and so far, only woman to have won the Nobel Prize for Physiology or Medicine unshared.

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A vision for the future of genomic healthcare

In September 2020, the UK Government published Genome UK, a vision for the next ten years of genomic healthcare. This National Genomic Healthcare Strategy sets out a plan to deliver the future of care in the NHS by enabling the provision of world-leading genomic healthcare to patients in the UK and across the world.

Over the next 10 years, the Government’s ambition is to create the most advanced genomic healthcare system in the world,

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Landmark strategy launched to cement UK’s position as global leader in genomics

Health and Social Care Secretary Matt Hancock has today heralded the launch of a landmark new strategy which will secure the UK’s future position as a global leader in genomics.

The new National Genomic Healthcare Strategy – Genome UK – will ensure the UK can offer patients the best possible predictive, preventative and personalised care by harnessing the potential of advanced genome sequencing.

The strategy sets out how the UK genomics community – from researchers through to the NHS – will come together to harness the latest advances in genetic and genomic science,

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Professor Sir Mark Caulfield at QMUL’s Precision Medicine Leadership Event

On 5 March 2020, Professor Sir Mark Caulfield, Chief Scientist at Genomics England, delivered the keynote talk at St Bartholomew’s Great Hall for the Precision Medicine Leadership event co-hosted by Queen Mary University London (QMUL).

The event set out to explore how collaboration can enable and advance precision medicine, showcasing new developments in the field from academia and industry. The event fostered networking opportunities between delegates who attended from more than 30 companies spanning pharma,

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