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.

Since 2011, we’ve taken a unique, decentralized approach, operating in many regions to ensure that our machine learning algorithms provide accurate detection of rare and challenging cases, analyzing data in a way that reflects many diverse populations around the world. In turn, one million genomic profiles analyzed allows researchers globally to benefit from more precise, real-world data analysis, furthering the capabilities of data-driven medicine.

To mark the occasion, our coworkers celebrated on multiple continents from our various offices and headquarters including Switzerland, France and Boston, MA and more joined remotely through video chats. We asked our peers what this accomplishment means to them and here’s what some of them had to say:

When I started six years ago, SOPHiA GENETICS was just starting to be known in the market, and now we are a key player in it.

The community is growing and with more analyses, SOPHiA GENETICS AI becomes more robust and smarter. We are now unlocking new ways to help researchers.

It is incredible that we have impacted so many people, bringing them solutions to their real problems. Clients needed results, experts needed support and we have been there, close to them, doing our best!

This is what we come to work for every day, no matter which department or role.

It brings purpose to my job, being able to say that our efforts have now touched the lives of so many.

I don’t know how many companies that have had the pleasure of achieving such a huge goal.

Looking forward to celebrate the two million!

Check out the photos of our celebrations below and contact us if you’d like to learn more about the SOPHiA DDM™ Platform.

The new building offers additional office space for the growing workforce of our Swiss HQ, as well as a brand-new R&D lab, replacing our former lab in Geneva. The layout and infrastructure of these new facilities is specially designed to accommodate various requirements including Experimental Quality Check to Supply Chain and more, offering a tailor-made environment to meet our company's R&D activities.

Led by none other than our CEO, Jurgi Camblong, a special tour of the new office was offered to representatives of the State of Vaud where the building is located. Celebrations continued with speeches by State Counsellor Philippe Leuba and our CEO, who cut the inaugural ribbon together.

"These last 10 years have been quite incredible; we’d never have thought we’d be filling up a location this big when we started in 2011 in a 530 square foot space with a handful of people. Today, we’re opening an office and lab that is 100 times bigger – almost 54,000 square feet! SOPHiA GENETICS is growing, and with it, our growing social responsibility to continuously make the best use of our resources and talent to help create new paths for medical research worldwide. We call it democratizing data-driven medicine, together.”

Jurgi Camblong, CEO and Founder

News coverage of the expansion:

24 Heures, Sept 1^st

https://www.24heures.ch/nee-a-lepfl-sophia-genetics-va-amener-350-emplois-a-rolle-845679550550

L’Agefi, Sept 1^st

https://agefi.com/actualites/entreprises/venir-a-rolle-nous-permettra-de-grandir-confortablement

Vasyl Vaskul, Senior Software Development Engineer

My one inspiration in life has always been my family. Each and every one of them has given me so much, but it’s my uncle, in particular, who helped me discover and pursue my passion for science. He’s a very talented scientist and his success story in the field really inspired me to try and follow in his footsteps. Our discussions were always revolving around nourishing and exciting topics such as string theory, black holes, supersymmetry, etc - and the reason why my first aspiration was to become a theoretical physicist. 

I quickly realized that I needed to study and work in a field that is more exciting and stimulating on a daily basis that theoretical physics. I have always been passionate about mathematics and computers ever since I was a kid, so when the time to choose arrived, I went on to study Computer Science at KNU, in Kyiv, Ukraine. My other passion in life has always been traveling, opening to the world, and discovering other cultures; that’s why after winning a scholarship for COPERNIC program I have moved to Paris, France to study Business Administration at Sciences Po.

Being particularly drawn to the field of technology in general, I was then looking for a job that could combine this passion with my education and an exciting environment for me to work in. I heard of SOPHiA GENETICS, and it seemed like the kind of company I wanted to be a part of. Health, data, scalable services, cloud computing, web, opensource, innovation… all of these words reflect my personal interest and are at the core of what the company does every day. 
I now live in the beautiful French Basque country with my family, working as a Senior Software Development Engineer.

My main focus of work is building new platform services powering data transfer that will be at the core of the new SOPHiA DDM™ platform. On the day-to-day, it means that I am solving challenging problems of data transfer. It is very rewarding, and it makes me grow as an engineer a little more every day. I am part of a great team - the so-called Plancha team - and we all lift each other up in the most challenging way. We deal with scaling problems, performance bottlenecks, internals of algorithms and protocols for distributed systems, micro-service architectures patterns, failures at scale etc, while also regularly meeting with customers. When a new customer is using the platform, we have onboarding call to help them with automating uploads by using the uploader CLI tool. This helps us understand their needs and better prioritize the products we build. 

It’s important for my team, and for the whole company, to have this proximity with our customers; it gives us important insights and directions to help us fulfil our mission: helping healthcare institutions to improve people’s health across the globe. It’s incredible to work for a company that is full of great people at every level, working together toward the same goal.  

If I had to sum up what it’s like to work at SOPHiA GENETICS, I would say it just combines all the elements you could possibly be looking for in a job. First of all, I am lucky enough to be working in our French R&D office in Bidart which really is a dream location, close to the sea. Also, the job in itself is stimulating. I’m surrounded with a brilliant team, and we solve challenging technical and scientific issues; it never gets boring! But what is truly amazing is the bond we, as colleagues, all share. We come from all over the world, from different backgrounds, we don’t speak the same language and don’t have the same culture, but we all learn from one another and grow together, united by the same exceptional company mission. I may not have become an astrophysicist working on black holes, but with the SOPHiA team around me, I am for sure - we are all - reaching for the stars!

Amanda Fee

You never know when life is going to throw you a curve ball. You can plan for something to happen down to the dotted line, but a simple phone call can change your whole perspective on life.

In August 2017, my mother went to a doctor, complaining about lower back pain. After tests and a scan later, it turned out her appendix had ruptured and needed to be taken out.  As the doctors started her procedure to remove the appendix, they looked at her with concern, as they noticed small dark specs around her gallbladder and intestines.  We were told my mother had PMP cancer (Pseudomyxoma peritonei), which is a slow growing cancer that can begin with tumors in the appendix but can spread to other organs.

At the time of all this, I was in a different place, quite literally. I was studying in Ireland, about to submit my master’s thesis, focusing on the next steps of my career. When I got the call that my mother had been diagnosed with a rare cancer, I broke down. I knew my mom was terrified, and the only thing I could do was to wait for my flight home to give her a hug. Not being there was one of the hardest moments of my life. I’m very much used to being involved in every aspect of my family and I felt like I couldn’thelp her. By the time I got home to the US, my mother had already begun chemotherapy. It was hard to go through the winter holiday months and to watch her lose her hair and suffer from the taxing treatments. Right after the holidays, my mother went into her surgery. This invasive treatment consisted of removing all tumors and a high intensity chemo wash. After a few days in the ICU, and a week in the hospital, she got the OK to come home. We were delighted about the news!

Except, it was around that time when she started having more issues, resulting in another emergency trip to the ER. Her doctor told us her colon had ruptured and they had to go back in and fix it. We were told to say our final goodbyes, knowing that the chances of her survival were low, due to her invasive surgery the week before. I remember my father and I looking at each other in pure disbelief. How did we go from having her home to her potential death? After what felt like the longest three hours of my life, we got the news that the doctor was able to repair the damage. From there, we started my mother’s journey towards recovery with the support of an amazing community of family and friends.

My best advice for families is to know the risks, understand your biological health, and surround yourself with a supportive community.  Every six months we’re biting our nails when my mother goes through a routine check-up to see if the cancer comes back. My siblings and I now get regular checkups and specifically test for this type of cancer with appendix specialists. When my mother was going through her treatments, our community of friends and family kept our energy and spirits lifted. Even now, after her treatments, my mom finds comfort in online communities of people with the same cancer, all sharing their stories.

I share this information because this time of my life was unlike anything I’d ever imagine experiencing and I feel like it aged me by 20 years. I had to really step up for my family. Now, I try to take that same effort and focus it on my work at SOPHiA GENETICS. What my family and I went through has fed my fire and passion to work for a company that actively supports cancer and rare disease research. It’s really rewarding and makes me hopeful that there could soon be better treatments for this cancer and that it could one day be eradicated. In the meantime, my family and I are living life to the fullest, celebrating my mom’s small cancer-free wins, and taking nothing for granted.

Miling Wang, Manager, Bioinformatics

My educational and professional journey is a pretty straightforward one, and would have probably been entirely pursued in my native Canada if it wasn’t for a sudden move that happened during my PhD. Unexpectedly, my PhD professor joined the University of Miami and I decided to follow him. This wasn’t planned but it’s probably the catalyst for my current career path.

In Florida, I completed a PhD in Biochemistry and Molecular Biology, investigating the expression and function of long noncoding RNA in amyloid formation, and in that pursuit, I quickly had to involve bioinformatics in my focus. The main motivation for that is a pretty classic tale: as the molecules we discovered in the lab were not well-characterized, it pushed us to develop our own unique NGS and bioinformatics workflow to look at expression and function. While the learning curve was steep (I had never touched a terminal before that), the process was rewarding and it opened up the possibility of pursuing opportunities outside the lab. 

I graduated in 2018 and started looking for a job in the field of biology that could fulfill my interests in NGS, bioinformatics and client services.

In early 2019, I heard of SOPHiA GENETICS, a foreign company recently installed in the US and looking to grow a team here. I was up to the challenge and applied to a bioinformatician position. I joined the company on April 1, 2019, as one of the first members of the Data Science team in Boston, MA. Data Science being at the heart of what the company does, the team was already pretty big in Europe, but here on the other side of the Atlantic, everything was to be built from scratch.

Now, two years after I joined, I manage the bioinformatics services team for North America. We are a team of four people and growing, looking to hire more talents. Our focus is quite broad as we support a wide range of products, meaning that our work is never dull. All in all, the inherent nature of what we do allows us to be excited to go to work every day. I have no doubt there are still other elements to discover in the human genome related to human health; that’s what makes me so passionate about my job. The growing adoption of NGS and the discovery of other next generation sequencing technologies are key elements in elevating standards of care for various diseases. Knowing that what I do on a daily basis can impact people as an end benefit and improve their quality of life is immensely rewarding.

When you work for a growing company like SOPHiA GENETICS, another interesting aspect is that it allows you to grow with and within the company. Our core business being so innovative and evolving, there are plenty of learning opportunities That’s why I could quickly evolve in my role and now be in charge of my own team after less than two years with the company.

At SOPHiA GENETICS, the way we work is simple: we focus on the finish line. When you know you can contribute to something greater than yourself that can benefit other people, that’s when you can thrive to be at your best level. We push boundaries by being always at the forefront of innovation with our solutions, while being responsive to the needs of our users. But all of this wouldn’t be possible without the help and mutual support of a great team. People, colleagues, teammates, are a big part of who we are as a company. I’m surrounded with supportive, motivated, hard-working and passionate people at all levels; this creates an authentic company culture that boosts all of us, every day.

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.

Pauline Lestarpé

Being creative by nature, I first decided to study marketing after my baccalaureate. I wanted to work in the world of packaging (cosmetics sector). I have always loved beauty products. Being able to create, draw, design, attracted me.

I didn't like the business school I chose at the time - I felt like I didn’t belong. I was young, and I didn't know what I wanted to do exactly yet. The only thing I knew at the time was that I really wanted to evolve in a multicultural environment. My father is ex-military, and we spent a bit of time abroad; we’ve lived in Rome for 3 years and spent 2 years in Karachi (Pakistan). I have been immersed in other cultures and languages since I was 5 years old.

I chose to reorient my education and went on to study international trade, but I know that I only chose this field for the “international” word in the title. With six months to spare before resuming classes, I looked for a temporary job. I was 19. My curiosity led me to join a company as a Human Resources Assistant. I didn’t know anything about HR at the time, but I was willing to learn. My manager took me under her wing and made me discover the field. And I loved it! I had finally found my way.

During my studies, I focused on HR internships. I could go back to Rome and intern there for a while. After graduating with a BTS, I went to an international business school and obtain a Master’s degree through professionalization, with a major in HR. Basically, it meant that I could study and work at the same time, earning a salary. This seemed like a pretty interesting deal to me.

I then landed my first job at the headquarters of a large international company. I had the chance to go on secondment to the UK and the US for varying lengths of time and develop my language skills. I stayed there for 5 wonderful years during which I was in charge of HR. Then, other equally fulfilling experiences (and sometimes less so) followed in a wide variety of sectors: the railway industry, sports, retirement homes, etc. In 2013, my husband and I left the big city to go back to the roots – to the Basque Country.

My very last experience before joining SOPHiA GENETICS has been a turning point. We’re end of 2018, and I work in a company that’s doing badly. A big buyout was planned, my job was impacted, and I was about to be laid off. The business sector was a pretty glamourous one, but the reality behind the scenes was very much less so. For a year, I had been watching my job lose momentum and witnessing changes that frightened me. I preferred to choose to leave before someone cut my head off. I decided I had to remain the master of my destiny and my choices, and that I needed to contribute to something bigger than me, something that would make a lasting impact.

That’s when I heard about SOPHiA GENETICS. The fact that it was a growing company, always innovating and moving forward, really attracted me – and in the Basque Country! It seemed to have it all: a sector of activity that was unknown to me but that aroused my curiosity and fascination. A position where everything had to be built. I was starting from scratch. It was scary, but at the same time I could feel the adrenaline of the situation. I like to say that I am like a diesel engine: give me things and I am happier. I couldn't get into a monotonous mindset. I decided it was time for me to contribute to something more impactful, more useful to society, especially since cancer is a disease we’re all confronted to at some point, directly or indirectly.

I jumped into the unknown and I am now a Senior Human Resources Business Partner at SOPHiA GENETICS, taking care of our French and Belgian workforce. To sum it up, my job is to deploy our HR policy, but it’s multi-faceted and I never get bored. No two days are alike. My primary interest is to contribute to providing the best possible service to employees and it’ s much more gratifying (and in in-line with my values) to work for a company that’s revolutionizing healthcare rather than selling boardshorts.

As an HR person, it is actually quite rare to be working in a growing company. Usually, a company is in need of us when they need to restructure and lay off people. At SOPHiA GENETICS, not only are we growing – fast – but the overall situation is really something else. Of course, the multicultural aspect is a very important one for me; I love to speak other languages and learn from people with different backgrounds, origins and culture. In the Basque Country, there are very few companies of the kind. But the most striking thing is the culture. I’m surrounded by people who truly love what they do and from whom I can learn every day. Our sector of activity is a complex but fascinating one, and the end mission is empowering. We’re all invited to give the most of ourselves, to surpass our own capabilities, to express our ideas and to be actors of our own development, all of this in a healthy give and take relationship with one another. That’s what SOPHiA GENETICS is about: we’re a team of heroes.