Rett Syndrome
Rett syndrome is a rare, progressive neurodevelopmental disorder that predominantly affects females and leads to severe cognitive, motor, and communicative impairments. Caused by mutations in…
Metastatic Castration-Resistant Prostate Cancer
Metastatic castration-resistant prostate cancer (mCRPC) is an advanced form of prostate cancer that continues to progress despite androgen deprivation therapy (ADT). A subset of mCRPC…
Malignant Neoplasm of Ovary Associated
Malignant neoplasms of the ovary are among the most fatal gynecologic malignancies, and mutations in the BRCA1 and BRCA2 genes significantly increase the risk. Women…
Malignant Hyperthermia Prevention
Malignant hyperthermia (MH) is a rare but life-threatening condition triggered by certain anesthetic agents and succinylcholine, leading to rapid hypermetabolism in skeletal muscles. It primarily…
Germline BRCA-Mutated, HER2-Negative Breast Cancer
Germline BRCA mutations are genetic alterations in the BRCA1 or BRCA2 genes, inherited from parents. These mutations significantly increase the risk of developing breast cancer,…
Epithelial ovarian cancer with brca mutation
Epithelial ovarian cancer (EOC) is one of the most lethal gynecologic malignancies. Mutations in the BRCA1 and BRCA2 genes significantly increase the risk of developing…
Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is one of the most severe forms of muscular dystrophy, a group of disorders that cause progressive muscle degeneration and weakness.…