What Is Sickle Cell Disease? Sickle Cell Disease (SCD) is an autosomal recessive disorder characterized by structural abnormalities in hemoglobin molecules. The core pathogenic driver is a point mutation in the HBB gene encoding hemoglobin β-globin. Under hypoxic conditions, mutant…
The 28th Beijing International High-tech Expo (HI-tech Expo) will grandly open from May 8th to 10th at the China National Convention Center! As China’s first large-scale international technology exchange and cooperation exhibition with a technology theme, the HI-tech Expo has…
What Is Spinocerebellar Ataxia? Spinocerebellar Ataxia (SCA) refers to a heterogeneous group of inherited neurodegenerative disorders triggered by distinct pathogenic gene mutations. Many SCA subtypes are classified as dynamic repeat expansion diseases, predominantly driven by expanded CAG trinucleotide repeats. Core…
What Is Progressive Familial Intrahepatic Cholestasis? Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of autosomal recessive hereditary liver disorders caused by pathogenic gene variants. Mutations disrupt hepatocyte bile formation and excretion, which may eventually progress to liver failure. Three…
What Is Ornithine Transcarbamylase Deficiency? Ornithine Transcarbamylase Deficiency (OTCD), also known as type II hyperammonemia, is an X-linked inherited metabolic disorder caused by loss or impaired activity of ornithine transcarbamylase (OTC) due to pathogenic variants in the OTC gene. It…
What Is Tyrosinemia? Hereditary tyrosinemia refers to a group of inherited metabolic disorders caused by enzymatic defects in the tyrosine degradation pathway. Based on distinct deficient enzymes, three major clinical subtypes are recognized: Type I (HT1), Type II (TAT deficiency)…
What Is Retinoblastoma? Retinoblastoma (RB) is the most common intraocular malignant tumor in children. Its pathogenesis is primarily triggered by biallic inactivation of the RB1 tumor suppressor gene; a small subset of RB cases with wild-type RB1 are driven by…
What Is Neuroblastoma? Neuroblastoma (NB) is the most common extracranial solid tumor in children, accounting for 8%–10% of all pediatric malignancies, and is known as the “king of childhood tumors” due to its highly heterogeneous clinical manifestations. Based on molecular…
What Is Fanconi Anemia? Fanconi Anemia (FA) is a rare inherited bone marrow failure syndrome. Its primary inheritance mode is autosomal recessive, while approximately 2% of cases show X-linked recessive transmission. The disease is characterized by congenital developmental abnormalities, progressive…
What Is Congenital Adrenal Hyperplasia? Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive hereditary disorder caused by deficient key enzymes in adrenal cortical hormone biosynthesis. Its core pathological feature is impaired cortisol synthesis. Reduced cortisol releases negative feedback suppression of…
