Professor Eva Morava-Kozicz | The scientist dividing her time between lab research and patient care to improve the lives of CDG families around the world
As a paediatrician, Professor Morava became involved in CDG early in her career: “I learned about this new disease and when I made my first diagnosis, I fell in love with helping these children and their families. Despite their challenges the children are genuinely kind, cheerful and with a great sense of humour.”
Lab research: educating the scientists of tomorrow while developing new therapies for the CDG community
To date, Professor Morava’s research has focussed on discovering new disorders related to glycosylation. This research aims to have a clear understanding of the interaction of the genotype with the environment based on observable characteristics. This helps to predict how the disease may progress long-term and which organs might be involved. Professor Morava was also involved in functional studies, mostly biochemical or genetic, to prove that a certain gene causes that disease.
More recently, Professor Morava has been focusing on developing new therapies with several doctors, technicians and students.
It is hands-on lab work, for example, culturing cells, evaluating proteins, looking at genetic manipulations to see whether a gene is functioning abnormally and that is causing the phenotype. We do natural history studies, clinical trials and training for students, residents, and fellows who are joining us to learn about CDG.
Collaborations with labs on a global scale: the significance and opportunities sufficient funding provides
Joining Mayo Clinic three years ago, Professor Morava feels “very fortunate” to have received the Frontiers of CDG Consortium grant. With sites in the US and Europe, researchers and other CDG associations collaborate in research, making a huge difference to the speed at which research is developed. “Mayo Clinic was amazing; they supported me a lot to get all the documentation completed and the grant submitted.” With the grant supporting the notion to serve all individuals living with CDG, including travel assistance and educational resources, Professor Morava has seen a huge difference in the number of individuals with CDG she has been able to support: “I saw 100 CDG patients in the last 18 months at Mayo Clinic, which is just amazing.”
All those involved: physicians, scientists, parents and so on, they’re all so devoted.
Putting families at the centre: accelerating CDG research
CDG associations and families have played an essential role in securing the grant: “We could never have got the grant without the patient organisation: they were a part of the whole proposal.”
Professor Morava provides an example of how individuals living with CDG were able to drive forward research in a clinical trial in Europe: “There was a clinical trial, a pilot with a new medication for PMM2-CDG, and it was concluded that it could be a beneficial approach”. There was a need to repeat the study using a placebo approach to ensure the findings were accurate; however, there was no funding. The not-for-profit CDG association, CDG CARE (Community Alliance and Resource Exchange), reached out to sponsors and CDG family members and got enough money together to set up the trial as a double-blind placebo-controlled trial: “With the support of the patients, we were able to set up the trial, and have begun enrolment. It’s amazing to see this in action: we are in total harmony, and the support is clear from both sides.”
Identifying unmet needs and directions for future research
Despite establishing CDG clinics around the world, in the Netherlands, Belgium and the US, Professor Morava explains that the limited number of CDG specialist clinics means that not everyone has equal access to expertise and good disease management.
We need funding to establish new specialist centres globally and to help with travel expenses to ease the financial burden for families, many of whom have to travel great distances.
Professor Morava also feels it is equally important to empower both CDG families and medical professionals. “Even with a diagnosis many families don’t know that they could be part of a care network and community for CDG. Being connected to other families and experts is a huge lifeline.”
Attending video consultations with CDG families and their local clinician means Professor Morava can support both the patient and the clinician. This support, empowering health care professionals, will in turn, lead to increased diagnosis and a greater network of professionals interested in CDG and knowledgeable about it, local to where families are.
I hope that we can put more effort into education, not just patient education, but
Thinking of the future for CDG research and the clinical trials under way, Professor Morava highlights the vast variations of the disease and how important it is to “think about this group of disorders globally”. With more than 140 CDG, current therapy research only looks at a few of these. “Moving forward, I would like to see research into more types of CDG to tackle the huge unmet need for these families.”
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Rare Revolution Editor