Hugo Fellows

“It has been incredibly rewarding for me to be welcomed into this global collaborative community working to find answers for families facing years of uncertainty and striving for innovative strategies to find diagnoses.”

— Cherisse Marcou, USA

“I am motivated to work with the Wilhelm Foundation because it aligns with my goals. As the founder of iHOPE-Kids Foundation which also works to find answers for undiagnosed heart rhythm disorders, I feel we can reach more families if we can collaborate together. IHOPE-Kids seeks to connect the global community to help families.

In rare disease, working together can and will make a difference. I am excited to help the Wilhelm Foundation and be part of the undiagnosed hackathon because this is exactly what rare disease families need - the collaborative minds of many different experts and advanced technology to find answers.”

— Christina Miyake, USA

“I am strongly motivated by uncovering answers to the unknown, and working in rare genetic diseases allows me to address complex challenges with tangible and meaningful outcomes for those affected. This impact may take the form of guiding treatment decisions or helping to end the long diagnostic odyssey that is all too common.

With extensive experience as a bioinformatician and variant analyst in rare disease genetics in Australia, I have developed the skills required to contribute to life-changing diagnoses. As a Hugo Fellow, I aim to apply these skills to help find answers for those who need them most around the world. I am particularly excited to collaborate with and learn from the exceptional interdisciplinary team assembled by the Wilhelm Foundation, and to contribute to efforts that deliver diagnoses and improve outcomes for those living with rare and undiagnosed diseases.”

— Gavin Monahan, Western Australia

“My dedication to the field of undiagnosed genetic diseases began in 2014, right at the start of my bioinformatics career, when I was tasked with identifying cryptic genetic variants in a neonatal screening program. Since then, I have been on a continuous journey to develop more sophisticated bioinformatics tools capable of uncovering the most elusive genetic mutations.

Today, far too many genetic diagnoses are still missed by standard bioinformatic pipelines.

As a Hugo Fellow, my mission is to improve them — closing the diagnostic gap and finally providing answers to the patients and families who remain undiagnosed”

— German Demidov, Germany

“At the hackathon in Hyderabad, there was amazing collaboration between expertise’s. As a bioinformatician, I started with analysis output and worked toward symptoms, while clinicians often began with symptoms and worked toward the data. Meeting in the middle was deeply rewarding.”

— Jos Smits, Netherlands

“I am deeply motivated to contribute to the mission of the Wilhelm Foundation because I believe that every undiagnosed patient and family deserves answers. Throughout my work in rare disease genomics, I have seen how combining genomic and phenotypic data can help uncover diagnoses that may have been missed for years. Equally important is the close collaboration between clinicians, molecular scientists, bioinformaticians, genetic counsellors, and many other experts. Diagnosing rare and undiagnosed conditions often requires bringing together different perspectives, knowledge, and skills. Time and again, I have seen how teamwork and interdisciplinary collaboration are essential to connecting the pieces of the puzzle and finding answers for patients and families.

While a diagnosis is not the end of the journey, it can change everything for patients and their families — providing clarity, ending uncertainty, connecting them with appropriate care and communities, and opening the door to future research and treatments.

I would be honoured to work together with the Foundation and its collaborators to help advance this mission through collaborative genomic research and data analysis.”

— Kristina Ibañez, Spain

“The Undiagnosed Hackathon shows what’s possible when international expertise and advanced genomic technologies and tools come together with one goal: finding answers for people living with undiagnosed diseases.

In Rochester and in Hyderabad, it was an honor to work side by side with more than 100 multidisciplinary experts for 48 hours, sharing knowledge and ideas with each other, and helping to end the diagnostic odyssey for several individuals and their families.”

— Marissa Ellingson, USA

“I am deeply honoured to join as a Hugo Fellow and contribute to its mission of advancing human genomics.

Bringing answers to individuals and families living with undiagnosed genetic conditions is a cause that is very close to my heart, and I look forward to contributing to this global community.”

— Neha Garg, India

“I am continually inspired by the Undiagnosed Hackathon’s commitment to bringing researchers and people living with undiagnosed disease together in pursuit of answers. Its focus on collaboration, innovation, and accessible diagnosis for all makes it deeply impactful”

— Paul Marcogliese, Canada

“It is a great honour and huge responsibility to have the possibility to work together with a group of talented, original, pushy doers who aim at offering People Living with Undiagnosed Diseases the opportunity to get the missed answers, to get back on track for a precise diagnosis and adequate treatment.

The sense of respectful collaboration with no barriers of origin, any type of background, listening carefully to each other is something unique that gives results and changes lives of people throughout generations.

Helene and Mikk have taught me how individual pain can be converted to massive relief!

And this is exactly the mission I want to accomplish!

All together we can!”

— Sofia Ourani, Cyprus

“We are living through an ongoing revolution in genome sequencing and interpretation that has generated an unprecedented volume of genomic data. Both the power and the limitations of this are particularly evident in rare disease genetics, where obtaining a diagnosis can be critical for specialised support, treatment, and informed reproductive choices. Despite this progress, millions of people living with rare diseases still remain undiagnosed.

I am humbled and honoured to use my background in molecular genetics and RNA biology, as a Hugo Fellow of the Wilhelm Foundation, to help individuals and families affected by undiagnosed rare disorders progress towards a diagnosis and, hopefully, finally find answers.”

— Yaroslav Kainov, UK