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Insights into Rare Disease from the Congenica Team
Patient Advocacy

Insights into Rare Disease from the Congenica Team

2/24/2022    |    0 min read

At Congenica, we strive to improve the lives of people living with rare and inherited diseases. While we all share this same passion, the team at Congenica all have different experiences of and reasons for working with rare disease.


To help raise awareness of Rare Disease Day and generate change for the 300 million people worldwide living with a rare disease, their families and carers, individuals from Congenica have chosen to share their story.


Here, some of our team talk about what rare disease means to them.


Andrea Haworth, Lead Clinical Scientist, Rare Disease

Andrea’s interest in rare disease was sparked 30 years ago when she worked with a lady who had Cystic Fibrosis. Since then, she has dedicated her career to interpreting genomic data to help provide patients with a life-changing diagnosis. It’s an exciting time, she says, as the genome is now not only used to inform diagnosis, but also therapeutics.


Christina Waters, SVP Genomics Insights & Solutions

On Rare Disease Day, Christina calls on the community to collaborate and partner to help deliver equitable and global access to solutions that enable the quick diagnosis of rare disease. Together, she says, we can find solutions and build new therapies.


Charles Steward, Lead, Patient Advocacy & Engagement

For the last 28 years, Charles has been working on the human genome, he’s also a dad to two young children with severe neurological disorders. He talks about rare disease around the world and how Congenica is driving research and therapy to improve the outcomes for more patients.


David Atkins, CEO of Congenica

David talks about the importance of Rare Disease Day and how he is inspired by Congenica's work with many rare disease patients, families and organizations around the world, citing the many stories of courage and resilience that we see on a daily basis.


Gary Li, Business Development Manager 

Gary has family members with undiagnosed diseases and highlights that having a rare disease is not so rare. He echoes a quote from the Beijing 2022 Winter Olympics, 'together for a shared future' and how that is true for rare diseases.


Helen Savage, Lead Clinical Scientist, Product Innovation

Helen explains why she finds her role at Congenica so rewarding. By looking for changes in a patient’s DNA that might explain their clinical symptoms and working with medical professionals to try and find a genetic diagnosis for patients with a rare disease, Helen helps to improve the lives of patients around the world.


Junjun Yang, Sales Manager - APAC

Junjun talks about the high burden of rare disease and the large numbers of people affected. Technology is plying an important role in helping these families, helping to deliver healthy babies and happy families.


Katie Tate, Bioinformatics Analyst

Katie is passionate about speeding up the diagnosis and as someone with MS, understands the importance of a rapid diagnosis on a personal level too. In her film, she talks about how half of rare disease cases go undiagnosed, but with 80% of these cases having a genetic component, the incredible opportunity to achieve diagnoses by using genetic analysis.


Lily Wang Regional Product Marketing Manager

Lily talks about the excitement of helping rare disease patients and their families to get a diagnosis, and helping even more people to achieve this result.


Simon Cooper, Digital Marketing Manager

Simon provides a personal story about his father and the pain and issues that come with misdiagnosis. He welcomes the improvements in technology that reduce the diagnostic odyssey from years to days, delivering lifechanging answers to patients and their families. 


Sandro Morganella, Head of Artificial Intelligence

Sandro talks about the work of his team and its many rewards. He cites one example when clinicians at Congenica, using one of his team’s prediction models, were able to provide a diagnosis for a complex case, which had a direct impact on the lives of the child patient and their family.


Suzanne Drury, Lead Translational Scientist, Prenatal Genomics and Personalised Health 

Suzanne is excited by the progress in technology since she started her career in rare disease. At that time, technology was transforming how clinical genetics could be performed - moving from looking at one gene at a time to many. Today, she says, we can rapidly implement Whole Genome Sequencing (WGS) to aid diagnosis. 


Wenbo Han, Professional Services - Bioinformatics (China) 

He talks about the value of sequencing data in the diagnosis of rare disease, and the health and happiness that this gives to families.



Rare Disease Day 2022

Rare Disease Day is an important date in the calendar for everyone working at Congenica. To celebrate and raise awareness of this special day, we have gathered opinions and stories from people working with and affected by rare disease around the world. Find out more by visiting our news and blog page.