How Schinzel-Giedion Syndrome (SGS) has changed our lives
Nuala Summerfield tells the story of her daughter's diagnosis of rare disease Schinzel-Giedion Syndrome (SGS) and setting up The SGS Foundation
Dr Charles Steward joins as “friend” of the UK Infantile Spasms Trust
Congenica's Dr Charles Steward joins the “friends” of the UK infantile Spasms Trust as an advocate and advisor
Our CHAMP1 journey
A father's story of having a son with a disease so rare that he is only one of 38 kids in the world to be diagnosed with Champ1, and what it means.
Dr Charles Steward elected to the ICPGC GC
Congenica’s Patient Advocacy and Engagement lead, Dr Charles Steward, has joined the International Cerebral Palsy Genome Consortium Governance Council.
SCN8A – the needle in the haystack
As part of our Patient Advocacy and Engagement program, we welcome guest blogger Ben Clay, whose daughter Tilly was diagnosed with SCN8A when she was 8.
Redressing the balance: Ring Chromosome 20 Syndrome
Congenica welcomes Allison Watson to talk about her experiences of Ring Chromosome 20 (R(20) - an ultra-rare epilepsy syndrome.
Making information about genomic medicine accessible to all
Article by: Alastair Kent OBE FRSA, Chair of the Congenica Patient Advocacy Advisory Board and former Executive Director of Genetic Alliance UK.
Why my five-year-old daughter is my inspiration as we fight to understand her sister’s epilepsy
March 26 is #Purpleday, an international awareness day that aims to get people talking about epilepsy and raise awareness of the condition. Congenica welcomes guest blogger Adam Clatworthy to tell ...
Rare Disease Day 2021 - Live Blog
The main objective of Rare Disease Day is to raise awareness amongst the public & decision-makers about rare diseases and their impact on patients' lives.
Why a diagnosis is so important for rare disease patients
Maybe you are an aunt or uncle of a child or may have friends who have children. Whatever the relationship you have, children are life-changing.
Our daughter Imogen was born in 2012 at 30 weeks, and spent her first month in intensive care.
The complexity of epilepsy - an overview
My name is Charles, and I'm both a Genome Scientist and the Patient Advocacy & Engagement Lead at Congenica, Cambridge, UK