What Is Niemann-Pick Disease? Niemann-Pick Disease (NPD) is an autosomal recessive lysosomal storage disorder, also referred to as sphingomyelin-cholesterol lipidosis. Based on pathogenic mechanisms and clinical manifestations, NPD is divided into two major subgroups: Type A/B and Type C. Type…
What Is Hemophilia? Hemophilia is an X-linked recessive hemorrhagic disorder triggered by pathogenic variants in the F8 gene (chromosomal locus Xq28) or F9 gene (Xq27). Such mutations impair synthesis and function of coagulation factor VIII (FVIII) or factor IX (FIX),…
What Is Methylmalonic Acidemia? Methylmalonic Acidemia (MMA) is an autosomal recessive organic acid metabolic disorder with onset in the neonatal or early infantile period. Its clinical course is insidious yet rapidly progressive, featuring multi-system injuries. Typical neurological manifestations include intellectual…
What Is Tuberous Sclerosis Complex? Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant multisystem genetic disorder that primarily damages the brain, skin, kidneys, heart, lungs and other organs. Its hallmark clinical manifestations include cortical tubers, recurrent epilepsy, intellectual disability,…
What Is Multiple Sclerosis? Multiple Sclerosis (MS) is a chronic immune-mediated central nervous system (CNS) disorder pathologically characterized by multifocal inflammatory demyelination, axonal degeneration and glial scar formation. Its clinical manifestations include cognitive decline, fatigue, muscle weakness, paresthesia, ataxia and…
What Is Hypophosphatemic Rickets? Hypophosphatemic Rickets (HR) is a rare skeletal disorder with an incidence of approximately 1 in 25,000. It arises from genetic or acquired triggers that induce excessive renal phosphate excretion, leading to severe hypophosphatemia and impaired bone…
What Is Pulmonary Alveolar Proteinosis? Pulmonary Alveolar Proteinosis (PAP) is a rare heterogeneous lung disorder characterized by abnormal accumulation of surfactant material within the pulmonary alveoli. It is classified into three major subtypes: autoimmune (acquired), congenital, and secondary PAP. Autoimmune…
In 2024, major pharmaceutical corporations heavily invested in the TIGIT (T cell immunoreceptor with Ig and ITIM domains) target within the tumor immunotherapy space. Despite setbacks in several Phase III clinical trials, encouraging clinical data from the combination regimen of…
On November 7–10, 2025, the American Heart Association (AHA) Scientific Sessions was held in New Orleans, USA. During the conference, Merck’s research team presented Phase III clinical data for MK0616 (Enlicitide), the world’s first oral PCSK9 inhibitor. This landmark achievement…
What Is Phenylketonuria? Phenylketonuria (PKU) is a common autosomal recessive monogenic metabolic disorder caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. Mutations impair the function of PAH enzyme, blocking normal phenylalanine (Phe) catabolism and resulting in systemic accumulation…
