Konrad Kowalski presents Masdiag's work on rare disease diagnostics and congenital defects of metabolism to Poland's Parliamentary Group on Rare Diseases at the Sejm.
Konrad Kowalski, Mass Spectrometry Expert at Masdiag, had the honour of taking part in a meeting of the Parliamentary Group on Rare Diseases at the Sejm of the Republic of Poland.
Together with Magdalena Pajdowska, Konrad presented Masdiag's work in advancing rare disease diagnostics in Poland, with a focus on congenital defects of metabolism (WWM) and the laboratory's role in developing accessible screening tools.
The meeting, chaired by Prof. Alicja Chybicka, provided an opportunity to shed light on the prospects of rare disease diagnostics in Poland and the role that innovative laboratory methods can play in reducing diagnostic delays.
With an average diagnostic delay of 5–7 years for rare disease patients, improving access to specialised testing is a public health priority. Masdiag's dried blood spot methods for conditions including X-ALD and AADC deficiency represent practical advances that can be deployed within existing screening infrastructure.
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