Pediatric Research Center
The Pediatric Research Center currently represents almost 30 research groups carrying out clinical, translational and basic research in pediatrics in the University of Helsinki, Finland. Our mission is to promote research, to communicate the latest research results to physicians, patients and the general public, and to serve as a reference guide for researchers and companies seeking academic collaboration. We warmly invite students and young physician-scientists to join our growing team!
We really live in a changing world of medicine. Majority of research in medicine aims at seeking new and better treatment options. All neuromuscular diseases are rare diseases, and most of them without specific treatments. Now first medicines for the most common childhood-onset neuromuscular diseases, Duchenne muscular dystrophy and spinal muscular atrophy, have become available, and novel therapies have filled the community with hope, but at the same time new questions and concerns have raised – is it safe? Is it really effective? Is it cost-beneficial? Is it ethical? Is it equal?
Like in all new therapies, we don’t know longtime effects. We have to consider safety, tolerance and efficacy based on limited short-time studies and experience. These novel therapies highlight the significance of a specific genetic diagnosis – treatments are mutation-dependent, like in Duchenne muscular dystrophy: one medicine is for patients with nonsense mutations, the other for those with certain deletions, while most patients still remain without any specific treatment option.
Development of new therapies has raised the importance of careful evaluation of the patients: knowing the natural history of the disease, uniform assessment tools and follow-up are essential. This has created a need for many clinical research projects to find out the best and right outcome measurement tools, and demands wide international collaboration. Extremely high expenses of these novel therapies have challenged the authorities to make decisions to whom these therapies can be offered, and because of reimbursement issues therapies may not yet be available to suitable patients.
What if the disease is ultra-rare and affects only a few people worldwide?
An example comes from my research field – mitochondrial medicine. We have a long history of mitochondrial research in Finland, thanks to the enthusiastic pioneers who have made us one of the leaders in the field. Research area is broad and heterogeneous, and we may be in the front line in developing and pressing new diagnostic tools into service, clarifying pathomechanisms and being questing for treatment options.
Mitochondrial myopathy caused by thymidine kinase 2 deficiency is an infantile-onset severe progressive disease leading to early death. Although it is not a disease of Finnish disease heritage, we have found a unique founder mutation, and more numerous patients than expected, being a major etiology for children’s mitochondrial myopathy in Finland. We have studied the underlying pathogenetic mechanisms of the disease, and collaborated closely with other mitochondrial scientists around the world.
Recently, an academic research group in the US has found a promising treatment for this disease in a mouse model, and first open patient trials have been extremely encouraging. The disease is far too rare for any placebo-controlled trials, and the therapy is even not yet published - but it has already been widely up in public - seeking hope for the hopeless.
I consider it a privilege to be able to participate to a progress like this – individual, tailored, best care for our patients!
The Pediatric Research Center has completed the application process for the Academic Track Program.
We are pleased to announce the successful applicants: Congratulations to Juha Grönholm, Emmi Helle, Santtu Heinonen, and Antti Kyrönlahti!
How to apply: The call is open from Oct 24 to Nov 24, 2017. Applications (as a single PDF file) will include
-Abstract (max. 1 page) and Research plan (max. 5 pages + 2 pages references) prepared according to the Academy of Finland guidelines, including a paragraph on career stage
-Applicant’s list of publications with impact factors
-Applicant’s CV (max. 2 pages)
Cell therapy has a long track record in medicine dating back to the transfusion of whole blood to wounded soldiers during the Second World War. A couple of decades of cell culture and animal research were required before the medical community felt ready for hematopoietic stem cell transplantation – the next key step in cell therapy. In the late 60’s, this opened a whole new field of therapeutic options for patients with inborn defects of immunity, diseases of hematopoiesis or hematological malignancies. (Read more)
Pediatric surgical research tackles with unique challenges. Pediatric surgery encompasses a few common childhood diseases and a surplus of very rare complex congenital anomalies. Practically all of them fulfil the definition of rare disease and most carry significant long-term sequela. In addition to surgery, which sometimes starts before the child is born and may continue in adulthood, successful treatment of developmental defects requires continuous input from a multitude of other specialties not only during childhood but also after transition to adult care. In most patients conclusive assessment of surgical outcomes is not possible before adulthood. (Read more)
”How is it that my sister has been asked to participate in your study but I still have not received an invitation?”, asked a relative who had heard about our research project. Recruitment to clinical studies can be as easy as this – patients volunteer before we even contact them! We researchers sometimes hesitate to approach our patients and recruit them to our study, fearing that it will burden them or that they will feel offended by our invitation. But during the past years, I have time and again been surprised by children’s and adults’ positive attitude and enthusiasm towards research. They do want to be part of our research, they want to contribute to scientific development, and therefore they should have the opportunity to participate. (Read more)