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Joe Clymer – Supplementing The Medical School Curriculum One Rare Disease at a Time
Joe Clymer is a 5th-year medical student. Over the summer of 2023, he completed a 75-hour internship with the Cambridge Rare Disease Network. This internship aimed to identify common problems that families with rare diseases face and create a set of resources to help. Joe tells us about his inspiration, findings, and future plans.
Learning from the Rare Disease Community: Enhancing Facial Recognition AI Technologies for Improved Accuracy in Identifying Individuals with Facial Deformities
Facial recognition technology has made significant advancements in recent years, transforming various industries and enabling efficient identification and authentication processes. However, one area where these technologies often fall short is accurately recognising individuals with facial deformities, like Amit Ghose.
I Am One Of You! Overcoming Obstacles: The Journey of a Young DeafBlind Rare Disease Disabled Scientist in the STEM Industry
The story of a young deafblind disabled scientist with a small handful of rare diseases, Max, trying to find work in the STEM industry is a testament to the strength of the human spirit. Despite facing numerous challenges and prejudices, Max defied the odds and made significant contributions to the scientific community.
Embracing Resilience – The Journey of an Asian Male Living with Neurofibromatosis Type 1 and Facial Deformities
As a child, Amit’s family began to notice physical differences, facial deformities, which set him apart from his peers. He was just two years old when he was diagnosed with Neurofibromatosis Type 1 and his father brought him to the UK in the hope of finding better treatment. Growing up, he faced challenges that most of us couldn’t fathom.
CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day
Understanding the challenges facing families seeking diagnosis for a rare condition, often called the diagnostic odyssey, is crucial, says CamRARE, the Cambridge Rare Disease Network. A diagnostic odyssey is described as the time is taken between when a symptom or...
Challenges facing families after a rare disease diagnosis
Cambridge Rare Disease Network talks to Karen Whitehead about the challenges of parenting, living and working with a rare disease diagnosis within the family. Kate Whitehead was 28 when she was told that she had Pregnancy Associated Osteoporosis which is a very rare...
Living with a very rare bone condition
Pregnancy is normally a time of excitement for mums to be. But for some, it is a catastrophic event due to a rare condition called pregnancy-associated osteoporosis (PAO). As Karen Whitehead, herself felt. ‘27 years ago, I was about to have my first baby. My husband...
Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22
The strategic mission of the MBU is to understand mitochondrial biology in health and disease, and to exploit this understanding to develop new therapies and improve human health. Alex Whitworth is a Group Leader at the Medical Research Council Mitochondrial Biology...
Rare Youth Revolution at RAREfest22
Chelsea Wong is the Youth Coordinator for Rare Youth Revolution (RYR). Rare Youth Revolution is a global news and opinion, digital magazine platform, dedicated to powering up the voices of the young people in the rare disease community. They aim to bring quality news,...
Finding a needle in a haystack
Dr Kate Downes is the Clinical Scientist Lead for the East Genomic Laboratory Hub. Genomic medicine is a rapidly growing and dynamic field, and we are increasingly findingmore answers to help us provide more results to patients and their families. The East Genomic...
Launching ‘Days of Rare’ photography exhibition at RAREfest22
Same but Different was born out of Ceridwen’s experience of having a child with a rare disease. Combining her passion for photography and her considerable knowledge in marketing Same but Different was established in 2015. The Real You Focussing on the positive and...
Dr Richard Gorman – animating the world of rare diseases
Dr RIchard Gorman is animating the world of rare disease to help people with rare conditions get their voices heard.