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WP9 - Communication and Dissemination
CDG & Allies - Professionals and Patient Associations
International Network (CDG & Allies-PPAIN)
CDG ONE-TO-ONE
If you please, a sweet medical career for Pf Eva Morava!
Congenital Disorders of Glycosylation (CDG), a rare sugar disease with 1000 sweet faces known worldwide!
12 May 2016, By Vanessa Ferreira (Portuguese Association for CDG at www.apcdg.com)
Introduction
My name is Vanessa Ferreira, from the Portuguese Association for CDG (APCDG, www.apcdg.com). I am really delighted to interview Pf Dr Eva Morava, who plays an extraordinary role in uncovering the importance of sugars trees in two of the most important molecules for the human body, named proteins and lipids. She is one of the most interesting people in medicine. Welcome—it's wonderful to have you with us at CDG One-to-One!
Dr Vanessa Ferreira: You are working on CDG for more than 2 decades. What made you move in the field of such a rare and serious disease?
Pf Morava: I was a fellow in medical genetics 20 years ago when I read the paper wrote by Prof. Jaeken on this new, rare disease. I gave a summary to my colleagues on the unique features and I never forgot about this first genetics lecture I gave. I actually diagnosed the first patient 4 years later, when returned back from my US training to Hungary. You would laugh me out, that I am this sentimental person, probably, but my patient had such a sweet face, and even though she was very sick, and weak, but she was always laughing. I never followed patients with any handicap before with such a happy nature. It’s hard not to fall in love with patients with CDG.
Dr Vanessa Ferreira: What are the biggest lessons out of those 2 decades of basic and applied research on CDG for you?
Pf Morava: We have been searching for new disorders and trying to understand the pathomechanism, but we were unable to come up with suficiente options and ideas for therapy. Being a clinical biochemical geneticist, I chose a profession to treat patients with different diets, cofactors and even with enzyme treatments, but we do not have a good therapy for most of CDGs. Our focus has to move from diagnostics to treatment, and clinical research has to get support from the academic world and from legislators as well.
CDG: a victim of limit budget on rare diseases?
CDG were first reported in the medical literature in 1980 by Dr. Jaak Jaeken and colleagues. Thirty six years after, most forms of CDG, still do not have a therapy.
Dr Vanessa Ferreira: You are driving basic and applied research for CDG and related rare diseases. Why we still do not have a cure for the most common form of CDG, named PMM2-CDG?
Pf Morava: We could offer a cure for most of the symptoms of PMM2-CDG by enzyme replacement, or chaperone therapy or genetic manipulations. The real important question is though, what can we do for the central nervous system disease. Patient already have a brain malformation in most cases of PMM2-CDG at birth; can we treat that, or could we prevent that, to be able to “treat the brain” as well, and not only “the body” in CDG? Currently, we do not have a treatment option to “reset” organs, which had a developmental problem during fetal life. Theoretically, to do that, we would need to know the diagnosis very early and would need to treat the patients before they are born. This is still utopistic in 2016.
Dr Vanessa Ferreira: Let's say that you can dream and you have a really big idea to find a cure for PMM2-CDG. What would be your 2 priority actions to achieve this goal?
Pf Morava: Such a wonderful cure should be evaluated for safety as soon as possible in animal models that we could set up clinical trials to evaluate patient response. This is a question of communication, management, logistics, financial support, collaboration; many of these already exist in our worldwide CDG network. Awareness, legislation and finances, these are always chronic problems in Orphan disorders…
Long-term impact of the current research
Dr Vanessa Ferreira: There are relevant initiatives around the globe for CDG. For example, there is a large initiative in the USA called “Clinical and Basic Investigations into Known and Suspected Congenital Disorders of Glycosylation” and also the RareCommons Spanish project. Is there a sense that maybe over time there would be more similar initiatives or a merge among these initiatives through international cooperation? What would be the 2 main advantages for CDG research?
Pf Morava: I think these networks are essential to solve the most important scientific questions around CDG. May be we do not need more initiatives, only sharing data (trusting each other with new findings and sharing ideas) and good communication between groups. Actually, I do see this communication growing rapidly.
Dr Vanessa Ferreira: CDG are one of the most rapidly growing family of monogenic diseases. Currently, more than 100 different forms of CDG have been identified. How do you feel that this momentum will help shaping future therapies?
Pf Morava: This could help with awareness, but is difficult for therapy initiatives, because there is not much unifying factor known in these disorders helping therapeutic ideas. However the growing numbers increase awareness, and that brings more scientists involved in the field.
Dr Vanessa Ferreira: What role do CDG patient advocacy groups have to boost CDG knowledge and future therapies?
Pf Morava: The patient advocacy groups are the most important to push our legislators towards decisions to support research , especially research on therapy in rare disorders. We, clinicians and scientists have almost no impact on these issues compared to the support groups, to be honest. I am very happy that the CDG group is getting stronger and stronger.
Dr Vanessa Ferreira: Some doctors that are starting to work on CDG are isolated to what concerns CDG expertise or diagnostic tools. What do you have to tell to them?
Pf Morava: I think the scientific community and the clinician network is strong and open in embrace anybody who wants to join us.
Message to CDG families
Dr Vanessa Ferreira: CDG families love your optimism, remarkable ability to communicate and special charisma. What message do you have for them?
Pf Morava: It is an honor to have parents trust. Their children are unique, sweet, smart, wonderful, who would not be happy to be involved and try to make a difference? I hope I can continue to be a physician and especially a physician working with children. Children are born with optimism. They never give up. I just follow their lead.
Work and personal live
Dr Vanessa Ferreira: You have a brilliant professional career divided between USA, Belgium and Hungary. In addition, you are mother, wife, daughter and you have lots of friends and followers on Facebook! Can you tell us the secret to combine everything at once?
Pf Morava: I think that the secret is that I love what I do, and I feel loved by the others, and that gives enough positive energy to go.
Dr Vanessa Ferreira: You are a remarkable inspiration, and it is wonderful to get your opinions on where do we stand for CDG and also learn about your background and how you got on this path. Thanks for joining us. Thanks so much also to our readers for joining us at CDG One-to-One.
About Eva Morava:
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Morava revolutionized CDG basic and clinical research. She is Professor of Pediatrics at Tulane University Medical Center, New Orleans, Louisiana (USA) and metabolic pediatrician at the UZ Leuven, Belgium. Recently, she became the Editor in Chief at the Journal of Inherited Metabolic Disease at the Society for the Study of Inborn Errors of Metabolism (SSIEM). Morava pioneered the development of new diagnostic tools, algorithms and therapies for CDG. She published 216 articles. Morava is a member of the national and international committees and scientific advice groups. She has strong collaborations with patient groups with whom she conducts patient-oriented resources and research. Pf Morava is a remarkable inspiration. Her opinions help to make a difference in the lives of CDG children and adults.
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