This February 28th, we at SOPHiA GENETICS can't help but feel a profound sense of connection with those living with rare diseases. Rare Disease Day isn't just about raising awareness - it's about celebrating the incredible individuals who have touched our lives in ways we could never have imagined. Despite facing immense challenges, these real-life superheroes have shown us the true meaning of strength and resilience. By sharing their stories, we hope to inspire others to join us in supporting and celebrating their lives.

Today, we're honored to share the story of one of our own at SOPHiA GENETICS. One of our colleagues, Ragen, has a dear family friend, Brooklynn, who lives with a rare CDKL5 deficiency disorder. Brooklynn is a beacon of positivity, touching the lives of all who know her. At just 8 years old, she's a true superhero who inspires those around her with her infectious smile and unwavering spirit. Supported by a loving network of family and friends, Brooklynn lives life to the fullest, bringing joy and happiness to all who cross her path.

“I am part of #BrooklynnsCrew – we have matching t-shirts and support Brooklynn to live a happy life with a rare disease.”

Brooklynn’s rare disease story started when she had her first seizure at 2 months old. The doctors at the ER and the family pediatrician weren’t concerned and said that she had myoclonic jerks that she would soon grow out of. Not satisfied with this assessment, her family managed to record a few seconds of one of Brooklynn’s seizures for another opinion from a neurologist.

The neurologist ordered EEGs, a pH probe procedure, x-rays with barium, a semi-MRI, and an overnight EEG to try and get to the root of the problem. The overnight EEG indeed detected a seizure, and so Brooklynn was started on levetiracetam to manage the seizures. She was seizure free for a month, before another seizure sparked a dose increase, and the same happened after another and another month. Brooklynn ended up receiving the highest possible dose of levetiracetam before an epilepsy specialist switched her to oxcarbazepine.

At this point in their patient journey, Brooklynn’s family saw a geneticist who recommended that when her seizures could no longer be controlled by medication, that they could do genetic testing. Not wanting to wait until the seizures got increasingly worse, Brooklynn’s family requested genetic testing be done straight away. Brooklynn’s exome was sequenced and at 9 months old, she received a diagnosis of CDKL5 Deficiency Disorder.

“Brooklynn’s sister, Madison, is a volleyball player, whose team wears #BrooklynnsCrew shirts for warmups at local and out of state tournaments to show support and help spread awareness.”

Brooklynn’s family discovered that her CDKL5 mutation is extremely rare and were motivated to raise awareness in any way they could. The family began the Believe in Brooklynn Facebook page to share their story, and all Brooklynn’s family and friends are part of #BrooklynnsCrew with matching t-shirts! Brooklynn is now 8 years old and although her seizures, neurodevelopmental delay, and low muscle tone affect her cognitive, motor, speech, and visual function, she leads a happy life and is doted on by her family and friends. She has a great upbeat personality and although she cannot communicate in the typical way, she has no hesitation in letting you know her likes and dislikes. Brooklynn’s sister is a volleyball player, whose team wears #BrooklynnsCrew shirts for warmups at local and out of state tournaments to show support and help spread awareness.

Brooklynn loves riding in the ranger (off-road vehicle) around the ranch and dirt roads - the faster the better! Swinging is also another favorite activity of hers, the higher the better. She is quite the thrill seeker and loves motion! “Sunshine time” is her favorite time of day and sometimes she just lays out with her family for 20 minutes or they go for walks in her wagon with her puppy Coco. Brooklynn also loves being in the water. She will spend hours playing, splashing and floating in the bath or in her swim spa that she received from Make A Wish, San Diego. Traveling is another favorite of hers - she goes out of state with her family multiple times a year for sister Madison’s volleyball tournaments. She loves flying on the plane and always gets a window seat! The craziness at the tournaments with all the whistles, kids screaming, and commotion actually has a calming effect on her, and she seems to take the best naps there.

We sincerely thank Ragen and Brooklynn’s family for sharing her story to raise awareness of CDKL5 Deficiency Disorder on this Rare Disease Day. If you want to follow Brooklynn’s story or donate to her medical fund, check out her Facebook page.

If you would like to learn more about CDKL5, you can visit the International Foundation for CDKL5 Research (IFCR) website for a range of resources, clinical trial information, support information and groups, and to learn how to get involved or donate.

José Maria “Txema” Rincon Garriz

I have always been drawn to science, any kind of science. I chose to pursue studies in biology in Geneva. 20 years ago, I obtained my Master’s degree in Microbiology based in molecular biology. My first research work at the time was on understanding the remodeling of structural proteins involved in the apical growth (tubulin mainly) of Neurospora Crassa filamentous funghi. That’s how I discovered molecular biology and got first acquainted with the field of genomics.

I was not willing to follow a typical path though, and got tempted to explore different scientific horizons: first, I decided to further my education with a PhD and moved to a laboratory involved in the control by transcription factors of the acute phase of the steroidogenesis in the adrenal gland. We focused our research in the rate-limiting step of the process which is the transfer of cholesterol (the precursor of all steroids) into the mitochondria to be converted into a steroid.

Then, after my PhD, I took another turn again with a postdoctoral researcher position in the field of immunology of transplantation. The research work was based on controlling the Graft Versus Host Disease (GVHD) after a bone marrow transplantation.

After 2.5 years, I left the academic world and tried my luck in the industry. I started working in R&D for a company active in NGS and that’s when I started to realize the potential of molecular biology and how it could improve diagnostics – and how fun working in that field was!

My job began to revolve around automated systems, and I started to understand the power they had by reducing costs and time. Although testing scripts on automated systems takes time and needs long-term visualization and a lot of concentration, the task seemed to me an enjoyable one. I’ve played chess for more than 30 years, and we all know that chess is all about visualization and concentration. I love spending time analyzing a problem, thinking it through and assessing how we can improve or speed up processes even though they are already working properly. Optimizing resources has always been a challenge I liked to take, and I think I developed this skill while playing board games.

I first heard about SOPHiA GENETICS after 2 years spent in that company. They seemed like a promising start-up, a pioneer in the analysis of NGS data, and I knew I needed to become part of their journey. In 2016, I quit my job and joined SOPHiA GENETICS. It’s been 5 years now since I started working in our Genomics Laboratory in Geneva, and I had the opportunity to wear many hats already: I did some R&D and provided demos for customers, to help them improve their skills and enter easily into routine.

We quickly acquired our 1st automated systems though, and we immediately started to implement and validate our workflows on these new tools. Now, I am in charge of the automation of our solutions in the lab. I typically spend time implementing scripts, testing them and training my colleagues to use our automation instruments

to improve our internal workflow. My job is very rewarding in the sense that I can directly see its value for the company: it has already allowed us to speed up treatment of Biopharma and SOPHiA Integrated Solution research projects but also to perform quality checks in the lab. I am really proud to have contributed to these through my implementing and/or validating of several scripts.

It is both exciting and challenging for me to be working on new solutions and improving our established workflow, but the environment also plays a great deal in my love for the job. To be around positive and committed people is a great feeling; the company’s mission gives us all purpose, and it’s not something you can find in a lot of places. My hope for the future is that we keep thriving and face all the next hurdles and challenges that may arise, only to become greater and better, while maintaining this mindset that makes the SOPHiA GENETICS team truly unique, and the company a great place of work.