What Is Congenital Thrombotic Thrombocytopenic Purpura? Congenital Thrombotic Thrombocytopenic Purpura (cTTP), also named congenital ADAMTS13 deficiency, is an extremely rare inherited hematologic disease. As one of the two major subtypes of thrombotic thrombocytopenic purpura (TTP), it differs from immune-mediated acquired…
Why VeloGene? TurboMice™ – Rapid Mouse Model Technology Mono Chromosome Multipoint Gene Editing VeloGene TurboMice™ Tetraploid Complementation Technology: Overcoming Multi-Loci Editing on the Same Chromosome, Delivering “Clone-Grade” Mice Directly at the F0 Generation In the construction of genetically engineered animal…
Maternal cannibalism—the consumption or rejection of pups by the dam—represents a significant confounding variable in developmental and reproductive biomedical research. This phenomenon is not merely a welfare concern but a critical methodological issue that can compromise litter viability and data…
What Is Isovaleric Acidemia? Isovaleric Acidemia (IVA) is a rare autosomal recessive inborn organic acid metabolic disorder caused by pathogenic variants in the IVD gene encoding isovaleryl-CoA dehydrogenase. Gene defects block leucine catabolism, leading to massive systemic accumulation of toxic…
What Is Gangliosidosis? Gangliosidosis encompasses a group of autosomal recessive lysosomal storage diseases caused by defects in lysosomal hydrolases or accessory proteins, leading to pathological accumulation of gangliosides within the central nervous system (CNS). Based on the defective protein, the…
What Is Severe Congenital Neutropenia? Severe Congenital Neutropenia (SCN) is a rare inherited bone marrow failure syndrome characterized by arrested myeloid differentiation, with an estimated prevalence of 3–8.5 cases per million people. Due to profound neutropenia, patients suffer recurrent infections…
What Is Familial Hypercholesterolemia? Familial Hypercholesterolemia (FH) is the most common autosomal dominant genetic disorder, triggered by pathogenic variants in genes including LDLR, APOB, PCSK9 and LDLRAP1. Its hallmark clinical manifestation is drastically elevated low-density lipoprotein cholesterol (LDL-C). Without timely…
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…
