Approved Research

Multi-Omics Exploration of Genotype-Phenotype Associations in Precocious Puberty and excavation of pathogenic variants in large database

Lay summary

Scientific rationale: Precocious puberty is characterized by the premature development of secondary sexual characteristics, accompanied by accelerated skeletal maturation and hormonal changes. This condition can lead to significant adverse physical and psychological outcomes. However, it is challenging to diagnosis the precocious puberty because symptoms of the disease vary from benign variants to serious conditions. In additional to this, the prevalence of precocious puberty is increasing globally year by year. It is necessary to research into pathogenic mechanisms for early detection and treatment. Specific populations carry hidden disease-causing genes, and screening targeted patients can improve the severity of the disease through early prevention.

Aim: In this study, we will analyze the clinical record data to identify individuals with potential endocrine disorders/pathogenic variants and conduct genetic analysis to identify known/new variants associated with each disease.

Project duration: The project period will be maximally 36 months.

Public health impact: The study might discovery new genetic variants associated with disease manifestation, and gain insight into the interaction between genetics and metabolism. The new genetic or metabolic hallmark could help clinical physicians identify potential patients with mild/moderate precocious puberty accurately. The elucidated relationship of genes and metabolism could improve care management and treatment. Early diagnosis and treatment can improve patients' quality of life, and reduce social and economic cost of the disease.