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We present innovative research practices in psychiatric genetic studies to ensure representation of individuals from diverse ancestry, sex assigned at birth, gender identity, age, body shape and size, and socioeconomic backgrounds. Due to histories of inappropriate and harmful practices against marginalized groups in both psychiatry and genetics, people of certain identities may be hesitant to participate in research studies. Yet their participation is essential to ensure diverse representation, as it is incorrect to assume that the same genetic and environmental factors influence the risk for various psychiatric disorders across all demographic groups. We present approaches developed as part of the Eating Disorders Genetics Initiative (EDGI), a study that required tailored approaches to recruit diverse populations across many countries. Considerations include research priorities and design, recruitment and study branding, transparency, and community investment and ownership. Ensuring representation in participants is costly and funders need to provide adequate support to achieve diversity in recruitment in prime awards, not just as supplemental afterthoughts. The need for diverse samples in genetic studies is critical to minimize the risk of perpetuating health disparities in psychiatry and other health research. Although the EDGI strategies were designed specifically to attract and enroll individuals with eating disorders, our approach is broadly applicable across psychiatry and other fields.

Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2variants.

Objective Understanding biopsychosocial contributions to a sensitised pain system is a key target of many pain management programs. The ‘Protectometer’ is a freely available educational tool that guides people with chronic pain to explore their personal threats and reassurances, identifying them as ‘DIMs’ (danger in me) or ‘SIMs’ (safety in me), to guide personalised pain management. This study aimed to explore common types of DIMs and SIMs, and examine differences between adults and young people.Materials and Methods A retrospective qualitative study was conducted. Written DIMs (n= 504) and SIMs (n= 711) were collected from 96 participants with chronic pain (77 adults aged 18–85 years; 19 young people aged 9–17 years) across 15 multidisciplinary pain management groups. DIMs and SIMs were transcribed and analysed using deductive content analysis.Results Four overarching themes were identified: ‘Engaging with the environment’, ‘In my body’, ‘My emotional health’, and ‘Activities and behaviours’. Similarities in SIMs were found, with the greatest proportion of SIMs in the social domain (49% adults; 47% young people). While adult DIMs were fairly evenly spread across the biological (37%), psychological (27%) and social domains (36%), young people’s DIMs were predominantly in the psychological (44%) and social (43%) domains.Discussion These findings provide insights into common threats and reassurances people in pain perceive, and revealed age-related differences in biopsychosocial contributions to pain and pain relief. Findings also highlight the importance of social-based interventions as part of pain management therapies for both adults and young people.

Congenital dysfibrinogenemias are characterized by structural abnormalities in fibrinogen, which may lead to abnormal function. Fibrinogen has critical roles in coagulation, platelet aggregation and fibrinolysis; accordingly, abnormal fibrinogen function can result in a clinical phenotype, which varies from asymptomatic (around 55) to bleeding (25) andor thrombosis (20). We describe a novel 326Cys→Phe mutation in the fibrinogen gene causing hypodysfibrinogenemia associated with life-threatening thrombosis in a family from Melbourne, Australia.