The Real Costs of Rare Disease
Congenica welcomed an expert panel to discuss the true cost of rare disease, from birth to diagnosis, childhood to adulthood.
Genomics in South Africa
A personal view of Genomics in South Africa by Diane May, mother to Matthew who has been diagnosed with Morquio syndrome.
Living with a rare disease in India
As part of our series looking at rare diseases around the world, guest blogger Swapna Roopesh discusses living with a rare disease in India.
Reality Check of a 13th Birthday for a Caregiver
As part of our mental health initiative, Nicole Duaz talks about being mother to Summer, who has a rare genetic disease and autism, and a self-care coach.
Mental health in the rare disease community
Congenica and partners respond to the UK Government’s open consultation to support mental health and wellbeing
Friedreich's Ataxia (FA) Awareness Day
In recognition of Friedreich's Ataxia (FA) Awareness Day, 21 May 2022, we welcome Alex Fielding to talk about his experience of this rare disease.
Unlocking sociocultural and community factors for the global adoption of genomic medicine
Dr Charles Steward PAE lead at Congenica talks about his latest article published in the Orphanet Journal of Rare Diseases
Discovering Primary Ciliary Dyskinesia (PCD)
Fiona Copeland is mother of two boys with the same rare disease, PCD, but had to wait six years for a genetic diagnosis. Here she shares her story of discovering Primary Ciliary Dyskinesia (PCD).
The Hong Kong Genome Project: Benefits to Patients
Mr. K. P. Tsang, Chairman of Rare Disease Hong Kong, talks about the benefits to patients of the Hong Kong Genome Project.
Rare Disease Framework Action Plan for England
Andrea Haworth, Lead Clinical Scientist Rare Disease, comments on the Rare Diseases Action Plan, launched in England to coincide with Rare Disease Day.
Susannah’s Diagnostic Odyssey
For Rare Disease Day, we interview Luke Rosen and his daughter Susannah’s physician, Wendy Chung about their journey to diagnosis of rare disease KIF1A.
Insights into Rare Disease from the Congenica Team
We work to improve the lives of people living with rare and inherited diseases. Here, some of our team talk about what rare disease means to them.