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The NF1 Gene Revealed    

Patients treated in the Pediatrics, Hematology and Oncology Clinic of Collegium Medicum in Bydgoszcz, Poland, initiated the creation of the ALBA-JULIA Association for people affected by von Recklinghausen’s disease and other conditions belonging to the phakomatoses group. The association is open to all those who come into any kind of contact with the above diseases, uniting physicians, patients, their families and friends. ALBA-JULIA was established to bring together patients and to consolidate measures taken in the fields of health protection, treatment and patients’ rehabilitation.

Phakomatoses are frequently referred to as neurocutaneous syndromes or neuroectomesodermal dysplasias. Numerous, distinct diseases have been classified as belonging to the category, including neurofibromatosis type 1.

Neurofibromatosis type 1 (von Recklinghausen’s disease, NF1) is a genetic disorder caused by mutations occurring in the NF1 gene, which codes neurofibromin 1. The children of patients suffering from neurofibromatosis type 1 are at a 50% risk of being affected by the disease. The disorder’s clinical picture includes skin lesions (six or more café-au-lait patches, over 5 mm in diameter in children and over 15 mm in adults, freckles and/or skin discoloration affecting unexposed parts of the body – armpit and groin areas), neurofibromas of all kinds, optic nerve gliomas, bone deformities, e.g. sphenoid bone dysplasia.

On account of the clinical symptoms’ considerable variability as well as of the fact that half of the cases constitute the first occurrence in a family, the diagnosis is often delayed when the disease is mildly expressed. NF1is a relatively common genetic disorder; it is estimated that the incidence is 1:2,500 live births.

On June 1 and 2, 2013, the ALBA-JULIA Association held a symposium on issues concerning NF1 and NF2. One of the lecturers was Robert Szymańczak, PhD, Vice Director of the Genomed laboratory, who delivered a presentation on modern methods used in NF1 diagnostics.
In our laboratory, the analysis of the NF1 gene sequence is carried out using Next Generation Sequencing, which is the world’s most modern technology available. Few diagnostic laboratories in Poland can use genome sequencing technology. Until recently, Genomed was the only institution capable of preparing and performing this type of genetic testing. Owing to the technology’s development, prices are being reduced and genetic testing is becoming more accessible. Since its startup, Genomed has been working on developing diagnostic methods the price of which will be adapted to a Polish customer’s budget. I believe that this will soon become possible for all genetically conditioned diseases, said Robert Szymańczak. Thanks to using genomic sequencing, examining the entire sequence of the NF1 gene is far less expensive than previously, and consequently more patients can turn to it, he adds.

Due to significant interest in genetic testing, Genomed offers ALBA-JULIA Association members NF1 testing at a special price.

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Marta Domańska