diagnosis

24th November 2022

The Dangers of ‘Optimism Bias’

Lauren Ferretti Ambassador, daretothinkrare, doctor, Genetics, Genomics, M4RD, medicalstudent, raredisease diagnosis, doctor, genetics, medical education, medicine, rare disease, royal society of medicine

Dr Lauren Ferretti is a paediatric registrar in London with a life-long commitment to charity fundraising and an interest in genetics and whole genome sequencing. Through working with M4RD as […]

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30th June 2022

Showcase of Genomics across North Thames

Jo McPherson diagnosis, Genomics, HCPs, rare diseases 0

Join the North Thames Genomic Medicine Service showcase to find out how genomic medicine is transforming healthcare in their region. Genomic medicine is coming into every-day-practice for multi-disciplinary healthcare professionals […]

4th May 2022

The genetics of intellectual disability: Episode 15

Jo McPherson diagnosis, genetics, intellectual disability 0

This webinar is part of the popular Genetics of webinar series and will provide an interesting update on the genetic origins of intellectual disability, as well as explore what challenges remain in […]

28th April 2022

A REAL Rare Rollercoaster – from Paramedic to Patient

Melissa Clasen interview, patient, Podcast, raredisease diagnosis, doctor, medical education, rare disease, Renal Nutcracker Syndrome, SMA, Superior Mesenteric Artery Syndrome, Wilkie Syndrome

All aboard this ride! This week, on The Rare Disease Podcast 4 Medics, I had the honor to speak to a paramedic, turned patient. Marie was a practicing student paramedic […]

30th March 2022

Fifty Years For a Fibular Hemimelia Diagnosis

Melissa Clasen interview, M4RD, patient, Podcast congenital, diagnosis, fibula hemimelia, medical education, rare disease

Fibular Hemimelia is a rare congenital condition characterised by the complete or partial absence of the fibula bone. It is the same condition which afflicted athletes Aimee Mullins and Oscar […]

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 […]

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

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, […]

18th August 2020

The Unusual Suspects 2020 – Rare diseases in everyday medicine

Lucy McKay conference, daretothinkrare, M4RD Events, Video clinicians, diagnosis, doctor, doctors in training, event, medical student, rare disease, rsm, symposium, the unusual suspects

In February 2020, a month before lockdown in the UK, we held our annual symposium at The Royal Society of Medicine for the sixth year. ‘The Unusual Suspects: Rare diseases […]