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…
Six years have quietly passed since our core scientific team completed a milestone technological leap in early 2020. Today, as global drug discovery pipelines accelerate at an unprecedented pace, the biotech industry increasingly demands smarter, faster, and more predictive preclinical…
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 CDKL5 Deficiency Disorder? CDKL5 Deficiency Disorder (CDD) is a rare X-linked genetic brain disorder caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Affected infants typically develop seizures within the first few months of life, accompanied…
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…
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…
