RF Rare diseases

• What is a rare disease?

  Life-threatening diseases of low prevalence
• What defines a disease as rare according to the European Commission?

  1 in 2000 people affected
• What is the prevalence of ultra-rare diseases?

  1 in 50,000
• What is an orphan disease?

  Lack of market for support and resources
• What percentage of rare diseases have a genetic basis?

  Approximately 72%
• What is the incidence of a disease?

  Measure of new conditions over time
• What is the prevalence of a disease?

  Proportion of population with condition over time
• What is the first priority in rare disease research?

  Helping patients get a final diagnosis faster
• What is the second priority in rare disease research?

  Increasing awareness among healthcare professionals
• What is the third priority in rare disease research?

  Better coordination of care
• What is the fourth priority in rare disease research?

  Improving access to specialist care and treatments
• What was the budget for the Genome Project between 2013 and 2018?

  £350 million
• What is Whole Genome Sequencing (WGS) cost now compared to before?

  Now less than $1000 per test
• What is a proband in genetic counselling?

  First person in a family tested
• What is the impact of technology on WGS availability?

  Usability increases as availability increases
• What is the main caveat in rare disease research?

  Small sample sizes
• What are some methods used in rare disease research?

  Online surveys, focus groups, qualitative research
• What is a disadvantage of rare disease research?

  Low sample sizes and poor recruitment
• What is a strength of specializing in rare disease research?

  Opportunities for novel research
• What is social identity in rare disease populations?

  Difficult to define across various diseases
• What is the significance of Li-Fraumeni syndrome (LFS)?

  Nearly 100% risk of multiple cancers
• What does social identity theory (SIT) explore in LFS?

  Family identity and its construction
• What is a theme found in the LFS study regarding identity?

  Claiming their own LFS identity
• What is a theme regarding cancer severity in the LFS study?

  Cancer severity shapes their identity
• What is a theme regarding acceptance of LFS risk?

  Divisions occur over genetic testing willingness
• What is dystonia?

  A chronic and incurable movement disorder
• What is a theme found in the dystonia study?

  Dealing with ignorance and uncertainty
• What is a challenge of social identity in dystonia?

  Isolation threatens their identity
• What is a theme regarding psychological explanations in dystonia?

  Fear and self-blame are common feelings
• What is cystic fibrosis (CF)?

  A common rare genetic disease affecting chloride transport
• What is the psychological impact of new CF treatments?

  CF is no longer a defining feature
• What is a theme regarding potentiality in the CF study?

  Desire to explore and achieve new goals
• What is the prevalence of Childhood Interstitial Lung Disease (ILD)?

  1 in 10,000
• What is the umbrella term for ILD?

  Rare and ultra-rare lung conditions
• What is a common treatment for ILD?

  Oxygen supplementation
• What is a challenge faced by young people with ILD?

  Feeling isolated and disconnected from peers
• What is the role of parents/carers in online communities for ILD?

  They act as gatekeepers for sharing information
• What is a positive outcome of ILD support groups?

  Helps with feelings of isolation
• What is a negative outcome of ILD support groups?

  Induces negative feelings like fear and doubt
• What should researchers consider when starting rare disease research?

  Identify the needs of the community