ECTS-Kyowa Kirin Maria Luisa Bianchi Award
Nominations period: nominations will open in September 2026.
In memory of Professor Maria Luisa Bianchi, who sadly passed away in 2020, ECTS would like to remember and honour Maria Luisa during its annual congress by introducing an annual Maria Luisa Bianchi Clinical Research Award on Rare Bone Diseases. This award is supported by Kyowa Kirin International.
The recipient of this award will give a lecture at the annual meeting and receive a grant of 10,000€ to be paid into the recipient’s institution or university account to contribute to specific research expenses.
About Maria Luisa Bianchi
Maria Luisa was an internationally recognised expert in the field of paediatric and rare bone diseases, who was actively involved in research, education and patient care. Her clinical research activities focused on paediatric metabolic bone diseases, endocrinology and steroid treatment side effects. She developed studies on cystic fibrosis, Duchenne’s muscular dystrophy, glycogen storage disease type 1, celiac disease and more. She was an active and regular contributor to the ECTS congress for many years, member of the ECTS Board of Directors and member of the ECTS Rare Disease Action Group.
Eligibility
This award is open to medical doctors who have made significant progress and contribution to the field of clinical rare bone disease research.
ECTS Board members are not eligible to this award during term of office in the ECTS Board.
To be eligible you must be a current member of ECTS.
The scientific profile of the candidate is the most important parameter that is evaluated.
In addition, number of years spent as member of ECTS and positions held inside the Society can also be considered.
Winners must wait five years before applying for another named award.
Nomination Procedure
Nominations are open till 15 December 2025
Nominees must be nominated and seconded by ECTS members, using the online form.
Review Procedure
All nominations are reviewed by an independent panel of reviewers. The final decision is based on the marks and comments from the reviewers and any conflicts of interest are identified and dealt with appropriately. The ECTS Grants and Awards Committee and ECTS Board will make the final decision based on scores and comments by the reviewers.
Presentation and Announcement of the Award
The award will be presented at the Welcome Remarks during the Annual Congress. A dedicated session will also be held during which the awardee will give a lecture. The award winner will also be announced through the ECTS communication channels.
Financial Support
This award programme is supported by Kyowa Kirin International in the form of an educational grant. The selection process will not be influenced in any way by its sponsor.
Winner of the 2026 Maria Luisa Bianchi Award
Congratulations to Outi Mäkitie, Professor, University of Finland, recipient of the 2026 Maria Luisa Bianchi Award. The award was presented during ECTS 2026 Congress in Girona.
This year, the recipient of the Maria Luisa Bianchi Clinical Research Award on Rare Bone Diseases is Professor Outi Mäkitie.
Outi obtained her MD (1986), pediatrics (1998), and pediatric endocrinology (2000) degrees from the University of Helsinki inFinland. Since then, Outi has consolidated her career as a leading practising clinician, recognised internationally for herexperience and expertise in the management of rare metabolic bone diseases, skeletal dysplasias, early onset osteoporosis,and inherited pediatric vitamin D deficiency.
Her passion for the study of rare skeletal conditions became evident early-on during her PhD training when Outi decided toinvestigate patients with Cartilage-hair hypoplasia (CHH), a rare skeletal condition that also presents with immunodeficiency.Her PhD project (completed in 1992) gave rise to multiple foundational contributions, including the discovery of RMRP as thecausative gene, achieved thanks to the impressive collection of >100 Finnish patients with CHH she put together. This cohortconstitutes the largest known population outside the Amish community and was crucial for improving diagnosis, counselling,management, and follow-up care for CHH patients and their families. Her clinical characterization of the CHH phenotype alsoprovided important insight to the involvement of immunodeficiency, its mechanisms, and most importantly, establishing thederived great increase in cancer risk and early mortality. In addition, RMRP was the first long non-coding RNA gene identifiedto cause human disease, a seminal discovery for the genetics community that was published in Cell in 2001.
After her PhD degree, Outi travelled to Toronto, Canada to work as Postdoctoral Fellow at the Hospital for Sick Children.During this period between 2000 and 2003, her clinical work at the Metabolic Bone Clinic focused on large cohorts of patientswith rare bone diseases, including genetic investigations on rare skeletal dysplasias. Numerous publications during herFellowship stand as testimony of her outstanding productivity and distinctive expertise in the clinical, radiological, genetic, andmolecular aspects of rare bone diseases. Aligned with the legacy of Maria Luisa Bianchi, who was also a pediatricendocrinologist, this Fellowship inspired and seeded the foundations for Outi to pursue an academic career directed atbridging clinical care and research, set at improving the health care of patients with rare bone diseases.
With that goal in mind, shortly after her return to Finland in 2005, Outi founded the Metabolic Bone Clinic at the Children’s Helsinki University Hospital. Since then, she has been in charge of its operation and development from a one-day to a full-week clinic. She has led the clinic recognition to be valued as a nationwide referral center, providing multidisciplinary care forchildren and adolescents suffering from skeletal dysplasia and other metabolic bone diseases. In 2013-2015 she worked as aclinician scientist at the Clinical Genetics Department of the Karolinska Institute University Hospital, in Stockholm, Sweden,where she still keeps a partial appointment.
In 2015, she returned to Helsinki after being awarded in open competition the Sigrid Jusélius Professorship at the University ofHelsinki; obtained again five years later, evidencing the high quality and excellent productivity of her research. On top of herfull-time professorship, Outi has remained active with her clinical work (part-time), focusing on the genetic diagnosis of rarebone diseases.
A glimpse at her bibliometric output comprising original research, invited reviews, and book chapters demonstrates that Outi isa highly productive and influential clinical scientist with over 400 publications and more than 12,500 citations to her work (hindex ≈55). Her research output spans clinical and translational studies on early onset osteoporosis, skeletal dysplasias,genetic determinants of bone fragility, and related pediatric metabolic conditions. Her work on rare monogenic forms ofosteoporosis during the past decade has identified four novel monogenic forms of osteoporosis, among which the discovery ofWNT1 Early-onset osteoporosis published in The New England Journal of Medicine in 2013, which is a prime example of thegreat scientific value of her discoveries.
An outstanding track record of successful research funding acquisition also stands in recognition of her high quality andimpactful research. Outi’s success is the consequence of a unique combination of her above-described research talent andclinical expertise; and also, her fondness for embracing international collaboration, and continued mentorship of youngscientists. Her stays at major international centres (Toronto, Canada 3 years; Stockholm, Sweden 3 years; Paris, France 1year) forged naturally her open mind and ability to establish a wide collaborative network with clinicians, epidemiologists, andfundamental scientists all around the globe, as witnessed in several of Outi’s publications. Her mentorship ability is clearlyreflected by the large number of young scientists from her group growing up to fill senior positions in top research centresaround the world.
In addition, Outi has been an active member of diverse scientific societies where she has arduously and continuouslyadvocated for research in the field of rare skeletal diseases, including: the Educational Program on Rare Calcium, Phosphateand Bone Disorders (ESE Rare-CaPaB) of the European Society of Endocrinology (ESE ); the 2025 ASBMR/RBDASymposium on Rare Bone Diseases; the Rare MSK Diseases Working Group of the IFMRS; and of several committees of theECTS, where among others, she served as the Chair of the Local Organizing Committee of the ECTS Helsinki meeting in2022.
