Acute intermittent porphyria (AIP) is the most common and severe form of porphyrias. This is a dominant inherited disorder with low penetrance, caused by mutations in gene coding hydroxymethylbilane synthase (HMBS). We present the results of our long‐term genetic study of AIP patients and their relatives (N = 153 and 302, respectively). We detected 88 HMBS gene mutations, 24 of which never described before. To identify additional factors conditioning AIP manifestation, we carried out whole exome sequencing on the group of AIP patients (N = 6). Mutation spectra of different patients virtually did not overlap. In 5 out of 6 patients, we found defects in genes regulating nervous system (UNC13A, ALG8, FBXO38, AGRN, DOK7, SCN4A). As usually acute AIP attacks have various neurological symptoms, we proposed a hypothesis of possible contribution of mutations in such genes in AIP manifestation.
Due to a progressive deterioration of our planet and its resources, environmental education has become crucial and children should be trained to understand environmental issues at an early age so they can cultivate positive change in the future. Children attending Alberta-based schools are introduced to ecological conservation issues in the fourth grade through an inquiry-based, activelearning curriculum. This study combines research in child development & educational strategies with environmentally related issues into a game that promotes active learning. Data for the study is gathered in a qualitative manner, introducing child participants to existing environmental games and collecting their feedback into graphic organizers. A prototype of an environmental education game that combines various styles of play will then be designed based on the gathered data. The game aims to explore concepts, scenarios, and strategies of environmental preservation, encouraging children to become active participants in preserving the planet and promoting environmentally responsible behavior.
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