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Rare diseases are conditions which affect fewer than 1 in 2,000 people but 1 in 17 are affected at some stage in their lives, some 3.5 million in the UK alone. 75% of rare diseases affect children and include rare cancers and well known conditions, such as cystic fibrosis and Huntington’s disease. 80% of rare diseases are caused by a defect in the genetic blueprint, sometimes a single spelling mistake in the three billion letters that make up the human genome, yet it can have devastating consequences for those living with the rare disease and their families. New breakthroughs in genomic medici…
Snip, snip, snip: Correcting Defects in the Genetic Blueprint
Dr James Thaventhiran (MRC Clinician Scientist Fellow, Uni of Cam, Dept of Medicine)
Many rare diseases are caused by a defect in the genetic blueprint that carries the instruction manual for life. Sometimes the mistake can be a single letter in the three billion letters that make up the genome, with devastating consequences. Gene editing using ‘molecular scissors’ that snip out and replace faulty DNA could provide an almost unimaginable future for some patients: a complete cure.
Living with a Rare Neurological Disease: A Dad and Genetic Scientist Explores the Patient and Parent’s Perspective
Dr Charles Steward (Clinical Genomics at Congenica)
Genome sequencing and the 100,000 genomes project has led to breakthroughs in shortening the diagnostic odyssey and informing care for some with rare diseases. Charles, genetic scientist of 25 years and father to a child with a rare neurological condition, is involved in the project as a participant, parent and consultant. He explores the ups and downs faced by families trying to search for and understand the cause of their child’s disease.
“It’s Not All in My Head!”: The Complex Relationship between Rare Diseases and Mental Health Problems
Rebecca Nunn (Medical Student at University of Cambridge)
Rebecca Nunn, Medical Student at the University of Cambridge and owner of a rare disease, argues that the common experiences of rare disease patients have impacts upon the way in which their psychiatric care should be offered and managed, and that sensitivity and understanding surrounding these issues should be considered a necessary part of effective care for rare disease patients.
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