Juha and Sirkku Peltonen are a couple with similar passion in mind. The couple have studied most of their career a rare nervous system disorder called neurofibromatosis. They have together covered a wide range of studies starting from gene and cell studies to tissue and clinical level and epidemiological studies. Neurofibromatoses (NF) are a group of genetic conditions. The most common types of neurofibromatosis are NF1, which causes more prominent skin changes and NF2, which first causes hearing loss. NF1 diagnosis is usually based on symptoms detectable in clinical examination, such as dark coloured spots on the skin (café-au-lait spots).
Ten years ago, Juha and Sirkku started to collect a unique total population based cohort with all Finnish neurofibromatosis patients. During the process they went through the papers of diagnosed patients from all 20 Finnish university and central hospitals and noticed that one third of the patients were misdiagnosed and did not actually have this disease. Currently the cohort includes about 2000 persons with neurofibromatosis diagnosis. Most of them are type 1 (NF1) while there are only about 100 patients with type 2 in Finland.
Early diagnosis is important because NF1 significantly increases a risk for cancers. NF1 is actually the most common monogenic cancer predisposition syndrome. NF also increases the risk for neurodevelopmental disorders. As Sirkku describes, a certain cognitive type with challenges in visual perception and autism traits are common to many patients globally. The biological mechanism is according to Sirkku and Juha most probably related to RAS protein hyperactivity during brain development. As Juha described, neurofibromatosis is a diagnosis affecting the whole family and can have widespread medical, social and cognitive consequences. The group recently found in collaboration with health economists from Åbo Akademi and University of Jyväskylä, that NF1 is associated with reduced educational attainment (https://onlinelibrary.wiley.com/doi/10.1111/cge.13907). Thus, the learning assistance is important for affected individuals. Further, they found that NF1 was associated with lower income from work (http://dx.doi.org/ 10.1016/j.gim.2021.11.024). Next, they want to clarify more in detail the causes behind economic inequality.
With the help of register data, the group has been able to study several comorbidities of NF1. Recently they studied the comorbidities of elderly individuals in collaboration with Juha Rinne, and found that the risk for dementia and especially Alzheimer disease are previously unrecognized neurological complications of NF1 (http://dx.doi.org/10.1038/s41436-021-01261-3). There would be a high potential also for studying psychiatric comorbidities of NF1.
Caring for patients with a rare disease is challenging because lack of information. Thus, Sirkku and Juha are also active participants in ERN GENTURIS, a European Reference Network (ERN) for all patients with one of the rare genetic tumor risk syndromes. ERNs are virtual networks involving healthcare providers across Europe where members can help each other’s in the treatment of rare diseases. In order to become a member, applicants will go through an approval process by the board of EU members states. Thus, Turku can be considered as an internationally recognized expert in neurofibromatosis research and treatment.
Great work, Sirkku and Juha!