rare disease

29th September 2021

Not your usual heart attack

Jo McPherson daretothinkrare, disease, interview, medicalstudent, patient, raredisease, Uncategorised diagnosis, Heart, medical education, patient voice, rare disease, SCAD, Spontaneous Coronary Artery Dissection

Heart attacks may not be rare but SCAD is! Today is World Heart Day and although heart attacks may not be rare, there are other causes of heart attacks that […]

15th September 2021

The impact of living with Myotonic Dystrophy

Jo McPherson disease, Genetics, interview, patient, raredisease diagnosis, dystrophy, genetic, MD, medical education, muscular, myotonic, Myotonic Dystrophy, patient voice, rare disease

Doctors are patients too Genevieve Allum is a 34 year old GP who specialises in Dementia and lives on South Coast with her partner. Genevieve was diagnosed with Myotonic Dystrophy […]

7th September 2021

Wolfram Syndrome UK and WellChild International Virtual Conference (Part 1)

Jo McPherson doctors, international, rare disease, researchers, Wolfram Syndrome 0

Register for your place on this international virtual conference hosted by Wolfram Syndrome UK and WellChild. The 10th WS conference will again be held as virtual events over 2 Saturdays […]

7th September 2021

NORD Breakthrough Summit

Jo McPherson NORD, NORDsummit, orphan drugs, rare disease, Summit 0

NORD Rare Diseases and Orphan Products Breakthrough Summit is back on 18 & 19 October 2021 offering a two-day virtual programme. The summit will discuss the latest updates on: rare […]

20th August 2021

The Unusual Suspects: rare disease in everyday medicine

Jo McPherson equity, M4RD2022, medical education, medical genetics, rare disease, royal society of medicine, rsm, sumposium 0

The Unusual Suspects: Rare disease in everyday medicine is returning to The Royal Society of Medicine on 9th February! The M4RD Annual Symposium has been a popular event in the rare disease […]

19th August 2021

Findings from the NCARDRS rare disease collection discovery phase

Jo McPherson National Disease Registration Service, NDRS, rare disease, webinar 0

This webinar is about the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) which is part of NDRS As part of the National Disease Registration service (NDRS) webinar series, […]

20th July 2021

Afternoon Tea with the Childhood Tumour Trust

Jo McPherson Afternoon tea, Care, diagnosis, neurofibromatosis, rare disease 0

Want to learn more about Neurofibromatosis Type 1, with a focus on diagnosis and care? Come along to Danesfield House at 1.30pm on Friday 6th August for Afternoon Tea with […]

5th July 2021

Public Dialogue on Whole Genome Sequencing for Newborn Screening

Jo McPherson genetics, Genomics, Health conference, newborn screening, Online event, rare disease 0

An online event to find out about a nationwide public dialogue on the implications of using whole genome sequencing for newborn screening. One hundred and thirty members of the public […]

5th July 2021

RAREsummit21

Jo McPherson CRDN, diagnosis, patient advocates, rare disease, RAREsummit21 0

Hear from and engage with a range of stakeholders pioneering change across the rare disease landscape… CRDN‘s RAREsummit21 is a platform for change. It is the infrastructure that unites patients, […]

25th June 2021

Reflections on rare diseases: state of the nation 2021

Jo McPherson daretothinkrare, disease, raredisease, Report Baroness Blackwood, Public policy projects, rare disease, reflections on rare diseases, Report, State of the nation

Starting a conversation Back in 2019, Baroness Blackwood spoke at the British Paediatric Surveillance Unit (BPSU) rare disease summer tea party where she stated “we need national debate on rare […]