The difficulties and importance of research in rare genetic diseases

Research Challenges and Considerations in Investigating Rare Exposures Using Breast Hypoplasia as an Example

“…Furthermore, when planning research, disease rarity poses a significant hurdle for participant recruitment due to the small population of eligible individuals, and the even smaller number of eligible individuals who are willing to participate (Tingley et al, 2018). This can hamper researchers' efforts to obtain a sufficient sample size to achieve planned statistical power (Hunter & Johnson, 2018). The power of a study refers to the probability a study will obtain a statistically significant result, should one exist (Greenland et al, 2016).…”