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Mosses are non-vascular plants widely distributed across multiple habitats and capable of thriving in extreme environments, such as Antarctica and the Arctic. However, knowledge of the genetic, metabolic, and molecular diversity of polar species remains limited, necessitating a better understanding of their mechanisms of response to harsh conditions. In this context, axenic in vitro cultivation under laboratory conditions is a...
Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in SwedenNARA Subscribed
In Sweden, it is estimated that around half a million people live with a rare disease, and many more are affected through a family member. Despite this, little is known about patients’ diagnostic journey, healthcare needs, and trust in the healthcare system. The study provides valuable insight into the diagnostic journey and healthcare experiences of individuals with rare diseases and their next of kin. An online cross-section...
Preparedness for working with genomic medicine among Swedish non-genetics physicians – a nation-wide survey studyNARA Subscribed
The mainstreaming of genomic medicine requires that non-genetics physicians take on responsibility for genomic medicine tasks. However, previous studies indicate that physicians without formal competence in genetics often lack the experience, knowledge and means to do so. This study assessed the current practice of genomic medicine among Swedish non-genetics physicians ( n = 133) using a survey designed by McClaren et al. (McC...
Autonomy and informed decision making are important aspects for prenatal genetic screening and diagnostics. Midwives’ knowledge and skills are essential to provide adequate information about prenatal testing to expecting parents to enable informed decisions. Information from midwives to parents about prenatal genetic testing has been found to not always be adequate, and parents’ needs not always understood. As new methods are...
Self-assessed knowledge of genomic medicine among non-genetics physicians – results from a nationwide Swedish surveyNARA Subscribed
Genomic medicine is becoming essential to clinical everyday practice in many medical fields. At the same time ethical, economic and practical challenges impede the mainstreaming of genomic medicine. Previous studies indicate that physicians without specific qualifications in genetic medicine may lack sufficient knowledge and/or confidence to efficiently practise genomic medicine. This study used a previously validated survey t...
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