Congenica

03/07/2023

This week, Congenica employees from across the world are gathering to celebrate a decade of Congenica and discuss ways to drive precision medicine in the future.

25/11/2022

Missed our webinar on The Real Cost of Rare Disease? You can now watch on-demand to discover the true emotional and economic burden of rare disease and the immeasurable benefits of an early diagnosis. The experts also discuss what's needed to help more rare disease patients get an accurate diagnosis at a young age. Find out more https://hubs.la/Q01tbv1D0

09/11/2022

There’s just one week until our ‘Real Costs of Rare Disease’ webinar takes place. We're excited to welcome Abbey Hauser, Lynsey Chediak and Congenica's Andrea Haworth - experts in rare disease, patient advocacy and genomics - to discuss this important topic. Alongside the challenges, they will also discuss what’s needed to help healthcare providers, patients and their families cope with the financial and emotional cost of rare disease. https://hubs.la/Q01rVkGJ0 # precision medicine

02/11/2022

Join our webinar on 16 November to hear from patient, industry and genomics experts about the real costs of rare diseases, particularly as patients make the transition into adulthood. Our panel will cover everything from the importance of a diagnosis to the support that's needed to help healthcare providers, patients and their families with the financial and emotional cost of rare disease. https://hubs.la/Q01rcHKP0

09/09/2022

In March 2021, we published a blog from guest writer Adam Clatworthy, who shared the inspirational story of his daughters, 5-year-old Daisy and her younger sister Lola. Lola had been diagnosed with epilepsy when she was just a few months old. Soon after the blog was published, we received the incredibly sad news that Lola had passed away at the age of three. Adam and his wife Jess also had a son, Alfie, born in March 2021. At three months old, he started having the same seizures as Lola. In September of that year, Adam wrote another blog for us about the importance of parents and patients working together with clinicians to help deliver diagnoses. These blogs were read by another UK family who then reached out to Adam and Jess. In August 2022 the two families met, and Adam sent us the following message.

“Yesterday we met with the other UK family that found us after reading my Congenica blog. After genetic testing they quickly got a CRELD1 diagnosis for their daughter Matilda (and Ayla) and then joined our CRELD1 Facebook Group. If we hadn't written that blog, Matilda would still be suffering in hospital, her mother Lisa still wouldn't have any answers for her condition and tragic loss of her daughter Ayla, and we would never have met them.

“They had such a lovely day yesterday and we could feel a very special bond between them. When Alfie and Matilda were laid next to each other, Matilda immediately rolled over and gave Alfie a big hug, and that just melted our hearts.

“Another family in the U.S. was shown my Congenica blog online as soon as they received a diagnosis for their son Colton - and she said it quite literally saved them. She was feeling so lost and now gets so much support and guidance from the rest of the group.”

“I just wanted to share because it's testament to all the great work you all do”.

01/09/2022

Our latest patient story is from guest blogger Diane May, who talks about genetic testing for her son Matthew and her view of genomics in South Africa. https://hubs.la/Q01lm9wS0

08/08/2022

Are you an experienced bookkeeper/part-qualified accountant? We're looking for an interim senior bookkeeper but also have vacancies in our product, data and engineering teams. Find out more on our careers page https://hubs.ly/Q01jqnrx0

05/08/2022

Our 'Global Barriers to The Adoption of Genomic Medicine' reveals the global barriers to the adoption of genomics into everyday healthcare. In our latest patient story, we welcome guest blogger Swapna Roopesh who shares her experiences of genomics and living with a rare disease in India. https://hubs.la/Q01jjLxT0

28/07/2022

As part of our mental health initiative, led by our Patient Advocacy and Engagement (PAE) team, we welcome guest blogger Nicole Duaz to talk about her experiences. Nicole is mother to Summer, who has a rare genetic disease and autism, and a self-care coach. Here she discusses her daughter turning 13 and the reality of being a caregiver. https://hubs.la/Q01hLD6n0

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.

08/07/2022

In response to the UK Government’s call for views on how to improve mental health and wellbeing, Congenica has collaborated with Gene People, RaremindsCIC, UCL Great Ormond Street Institute of Child Health, and Addenbrooke’s Hospital to highlight the issues in the rare disease community. The collective view is that having a rare disease in a family is itself a health inequality, given the lack of services and understanding for these conditions. Read the full response on our website. https://hubs.la/Q01gr4-r0

20/05/2022

In recognition of 'sAtaxia (FA) Awareness Day on Saturday 21 May, we welcome Alex Fielding as guest blogger to talk about his experience of this https://hubs.la/Q01bMXs-0

17/05/2022

‘Unlocking sociocultural and community factors for the global adoption of genomic medicine’, an article by Congenica’s Patient Advocacy & Engagement team, has now been published in the Orphanet Journal of Rare Diseases. https://hubs.la/Q01bsm2J0