The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients
In recognition of Rare Disease Day, Congenica looks at the importance of a genetic diagnosis for patients and asks, what's next for rare disease?
What’s it like to be a woman working in science?
For International Day of Women and Girls in Science, we talk to three women at Congenica about their experiences of working in STEM.
Professor Matthew Hurles discusses the Deciphering Developmental Disorders study
Professor Matthew Hurles, project lead for DDD study and Congenica founder, discsuses his projects, advancements in data analysis and interpretation
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.
Collaborative development of novel Precision Oncology Solution
Congenica has selected the GenomOncology Precision Oncology Platform for the development of a novel ground-breaking CE-IVD Precision Oncology Solution.
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.
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
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.