Month: March 2022

SCIENCE KIDNEY DISEASES More than 60 genetic diseases are currently known to directly or indirectly affect kidney function. These diseases range from relatively common to very rare and can impact kidney functions in infants to adults.  Many of these diseases are progressive and eventually lead to chronic kidney disease (CKD) and eventually end stage renal… Continue reading KIDNEY DISEASES

SCIENCE GENETIC DISEASES Lysosomal storage disorders (LSDs)  Several genetic diseases are caused by a deficiency in lysosomal enzymes.  These enzymes normally function to degrade different types of molecules.  When these enzymes are missing or reduced in activity, their substrates accumulate in lysosomes and lead to disease.  A subset of these lysosomal storage disorders (LSDs) are… Continue reading GENETIC DISEASES

SCIENCE DIABETIC NEPHROPATHY (DN) Diabetic nephropathy (DN) is a common form of kidney damage that occurs with the progression of metabolic diseases like type I and type II diabetes.  If diabetes is not properly treated then damage can occur to the glomeruli, the filtration units of the kidney.  This damage can lead to high blood… Continue reading DIABETIC NEPHROPATHY (DN)

SCIENCE GBA PARKINSON’S DISEASE GBA Parkinson’s disease is arguably the most common genetic form of Parkinson’s disease.  Numerous genetic studies have shown that a single mutation in the GBA1 gene (the gene that causes Gaucher disease) can increase your risk of developing Parkinsons’ disease by up to 30-fold.  In vitro and in vivo preclinical studies… Continue reading GBA PARKINSONS’ DISEASE

SCIENCE POLYCYSTIC KIDNEY DISEASE Polycystic kidney disease (PKD) is a genetic disorder in numerous cysts develop primarily within the kidneys, causing the kidneys to enlarge and eventually lose function.  There are two main subtypes of PKD: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, characterized by the development of numerous fluid-filled… Continue reading POLYCYSTIC KIDNEY DISEASE

SCIENCE GANGLIOSIDOSES GM1 Gangliosidosis is a lysosomal storage disorder caused by a mutation in the GLB1 gene.  Mutation in GLB1 lead to reduced activity of the lysosomal enzyme beta-galactosidase (bGal).  In GM1 gangliosidosis patients, bGal deficiency results in the accumulation of GM1 gangliosides (GM1).  GM1 gangliosidosis patients with the most severe bGal deficiency develop severe… Continue reading GANGLIOSIDOSES

SCIENCE FABRY DISEASE Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, leading to reduced activity of the enzyme a-galactosidase A (GalA).  In Fabry disease patients, GalA deficiency results in the accumulation of globotriaosylceramide (GL3), leading to a wide range of symptoms from pain, gastrointestinal issues, eye and skin problems to… Continue reading FABRY DISEASE

SCIENCE GAUCHER DISEASE Gaucher Disease is a lysosomal storage disorder caused by a mutation in the GBA1 gene.  Mutation in GBA1 lead to reduced activity of the lysosomal enzyme glucocerebrosidase (GCase).  In Gaucher patients, GCAse deficiency results in the accumulation of glucosylceramide glucosylceramide (GL1).  Depending on the severity of the GCase deficiency, Gaucher patients can… Continue reading GAUCHER DISEASE

NEWS AceLink Therapeutics Received the IND Clearance for AL01211 from Chinese NMPA Newark, CA and SuZhou, China, March 4, 2022 AceLink Therapeutics Inc., a clinical stage biopharmaceutical company developing transformative therapies for kidney diseases and rare genetic diseases, announced today that the IND application of company’s lead compound AL01211 was approved by Chinese National Medical… Continue reading AceLink Therapeutics Received the IND Clearance for AL01211 from Chinese NMPA

NEWS AceLink Therapeutics Received the Acceptance of  Investigational New Drug Application from Chinese NMPA  Newark, CA and SuZhou, China, December 10, 2021 AceLink Therapeutics Inc., a clinical stage biopharmaceutical company developing transformative therapies for kidney diseases, announced today that the IND application of company’s lead compound AL01211 was accepted by Chinese National Medical Products Administration… Continue reading AceLink Therapeutics Received the Acceptance of  Investigational New Drug Application from Chinese NMPA