Interview with Dimitra Micha, Molecular geneticist, PhD, The Netherlands

Who are you and what is your relationship to OI?

In my current function I am assistant professor and head of the Connective Tissue Diseases section in the Human genetics department of Amsterdam UMC in the Netherlands. For the last 15 years I have been performing dedicated research on Osteogenesis Imperfecta (OI) and other skeletal dysplasias. My team also coordinates the curation of the international OI variant database, and I am part of the scientific committee for the 15th international conference for Osteogenesis Imperfecta in Hong Kong. I hope to see all there! I am also deeply honored to be part of the scientific board of OIFE and to give this interview for the OIFE magazine, which has had a profound role over the years in connecting the OI community.

What are the biggest knowledge gaps in OI and how do you work to fill them?

I was initially attracted to the OI and skeletal dysplasias not only because of the fascinating bone biology but also by the uniqueness of this relatively small disease field. Compared to other genetic diseases, there is so much to do, in order to improve disease understanding and help the patients. OI has numerous research and clinical deficits on which we are working on. I am lucky to have landed in a center with a lot of OI history.

Our efforts with genetic testing have led to the discovery of three new genes for OI. However, despite the success with mapping the genetic OI background and the subsequent improvement of OI diagnosis, this knowledge has not yet been translated into effective new therapies. Especially regarding advanced therapeutic medicinal products such as cell and gene therapies, our field is significantly lagging behind. More attention, initiatives and research stimulation are needed. This is also the case for studies on new medicines, which are needed to expand the still limited OI portfolio of effective and safe therapies.

As researcher, I believe that real research innovation always starts from the clinic for which reason my research is heavily oriented on translational studies. The last years, we have been working on several research lines of gene therapy and drug repositioning development which we hope will lead to advancements with impact on quality of life for the patients.

Therapy development is intrinsically connected to disease models, which are needed to successfully test new therapies. Some years back, I was shocked to see that there is no reliable mouse model for OI type 1 with collagen deficiency, which represents the largest OI patient group! One of our major developments the last years has been the generation of a new mouse model which is now available to study and develop therapies for this vey prevalent OI type. In the bone disease field, we also need to develop animal-free alternative models on which we work collaboratively with other centers.

It is also important to mention that translational efforts can only exist with close connection with the clinic. To this end, I am fortunate to work closely together with prof Marelise Eekhoff who leads the clinical side of our Rare Bone Disease center. She is tirelessly setting up clinical studies and guidelines and ensuring the best clinical care for OI patients in our center.
Equally unmissable from our research is the patient perspective, which we are lucky to have through the welcoming Dutch patient association VOI, for which we thank the committed board members over the years and the talented new chair Roeline Labout.

In OI, we are a unique field and as such we also have unique challenges. Hopefully, together we will help the OI field soon catch up with developments in other genetic disease fields.

What is the most important role of OIFE compared to the national OI-organizations?

Rare diseases are rare, and solutions can be effectively sought and achieved only by connecting and working together. OIFE has a key role as the European organization, in providing this much needed connection and overview of crucial OI patient related topics. As researchers, we are obliged to be well aware of patient matters that require improvement. I was very happy to read about the IMPACT study – a wonderful initiative of OIFE, OIF and the OI community. This gave a refreshing look at the disease by highlighting disease aspects which the patients feel must be improved. This is the first step to steer scientific and clinical research to avenues that can address these understudied patient needs the coming years. I also find the OIFE Investigator Meetings and Clinical Trial sessions very informative. They benefit the entire OI community. My wholehearted thanks to the OIFE board and Ingunn for the inspiration, hard work and for supporting our research efforts!

What do you do in your spare time?

OI is my career and certainly also my passion. Because of my combined Scandinavian and Mediterranean heritage, I am interested in learning about cultures, and I enjoy people’s diversity which I also promote at work. In my spare time, I like cycling. For which I am ideally situated in the Netherlands with stunning cycling routes.

This article was first published in OIFE Magazine 2-2025.