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…
What Is Angelman Syndrome? Angelman Syndrome (AS) is a neurodevelopmental disorder triggered by dysfunction of the maternally inherited UBE3A gene located on chromosomal region 15q11–13. Its hallmark clinical manifestations include severe developmental delay, intellectual disability, persistent happy demeanor, speech impairment,…
What Is Rett Syndrome? Rett Syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function variants in the MECP2 gene located on the X chromosome, predominantly affecting female patients. Clinical manifestations typically emerge between 6 and 18 months of age…
What Is Fibrodysplasia Ossificans Progressiva? Fibrodysplasia Ossificans Progressiva (FOP), also known as “Stone Man Syndrome”, is an ultra-rare hereditary connective tissue disorder. Its hallmark clinical features include congenital bilateral great toe malformation, together with progressive, widespread and irreversible heterotopic ossification…
What Is Paroxysmal Nocturnal Hemoglobinuria? Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired clonal disorder of hematopoietic stem cells. Its classic clinical triad consists of three core manifestations: Most PNH patients die from thrombosis or progressive cytopenia. The disease incidence…
What Is Marfan Syndrome? Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the skeletal, ocular, and cardiovascular systems. Typical clinical manifestations include arachnodactyly, scoliosis, lens dislocation, high myopia, and the most life-threatening…
What Is Mucopolysaccharidosis? Mucopolysaccharidosis (MPS) refers to a group of rare hereditary lysosomal storage diseases, triggered by deficiencies of specific enzymes responsible for degrading glycosaminoglycans (GAGs), also known as acid mucopolysaccharides. MPS damages multiple bodily systems, with core manifestations including…
What Is Glycogen Storage Disease (Type I & Type II)? Glycogen Storage Disease (GSD) is a rare autosomal recessive metabolic disorder triggered by deficiencies in enzymes involved in glycogen synthesis or breakdown, resulting in abnormal glycogen accumulation in the liver,…
