The presently claimed invention relates to materials and methods for diagnosing a chronic inflammatory disease in a patient comprising testing a biological sample from the patient for a level of a first neurovascular biomarker of lymphatic activation and diagnosing the patient as having the chronic inflammatory disease if the tested level of the first neurovascular biomarker of lymphatic activation is less than a first normal level.

Provided herein are reagents, methods and biochemical markers for identifying individuals with glucoregulatory dysfunction and providing therapeutic intervention for individuals identified as at risk for glucoregulatory dysfunction. Specifically provided herein are methods for identifying a subject with glucoregulatory dysfunction based on changes in fasting blood lipid concentrations including, inter alia, diacylglycerols.

In some aspects, the disclosure relates to compositions and methods useful for the diagnosis and treatment of neurodegenerative diseases, such as leukodystrophies (e.g., Canavan Disease). In some embodiments, the methods comprise administering to a subject an N-acetylaspartate (NAA)-depleting agent or an N-acetylaspartate (NAA)-depleting agent based upon the subject's metabolic profile.

Methods for assaying α-L-iduronidase enzymatic activity and methods for screening newborns for Mucopolysaccharidosis Type-I.

Methods for identification and quantification of bile acids are disclosed. Bile acids in plasma, serum and/or blood such as a dried blood spot are used to identify subjects with a Niemann-Pick disease. The methods include measuring levels of a bile acid, such as 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine, or a combination thereof. Detection of bile acids involve mass spectroscopy and/or a combination of mass spectroscopy and liquid chromatography such as a LC-MS/MS assay. The methods can be used with sphingomyelinase assays to detect, diagnose and differentiate between Niemann-Pick A/B and Niemann-Pick C (NPC) disease.

Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.

The invention relates to a method for in vitro investigating mitochondrial replication dysfunction in a biological sample removed from a subject susceptible of suffering from physiological ageing or physiopathological conditions related to physiological ageing, or physiopathological ageing or associated symptoms or conditions, in particular premature ageing or accelerated ageing, or of a progeroid syndrome, such as Cockayne syndrome (CS), or neurodegenerative disorders or symptoms thereof, in which the levels of at least one species selected in the group of: POLG1 protein, POLG1 RNA, POLG2 protein, protease(s) which have POLG as a target, in particular serine protease(s) such as HTRA3 protein, HTRA2 protein and, HTRA3 RNA or HTRA2 RNA, or any combination of these species, are investigated. The invention also relates to kits and uses thereof, therapeutic methods against progeroid-like syndromes or symptoms and screening method for identifying particular protease inhibitor(s) and/or nitroso-redox stress scavenger compound(s) having relevance for the symptoms discussed herein.

The present invention relates to the field of autoimmunity. More specifically, the present invention provides compositions and methods useful for detecting autoantibodies. In one embodiment, a method for detecting autoantibodies to ZnT8 comprises the steps of (a) contacting in a first mixture a biological sample obtained from a patient with a ZnT8-antibody complex, wherein the ZnT8-antibody complex comprises ZnT8 and at least one detectably labeled anti-ZnT8 antibody or antigen-binding fragment thereof that specifically binds to the cytoplasmic domain of ZnT8; (b) contacting in a second mixture the first mixture of step (a) with an immunoglobulin G (IgG) labeled with a tag molecule; (c) contacting the second mixture of step (b) with a solid substrate coated with a capture molecule that specifically binds the tag molecule; and (d) detecting a signal emitted from the detectably labeled anti-ZnT8 antibody or antigen-binding fragment thereof.

The present invention relates to a pharmaceutical composition for preventing or treating Fabry disease, containing a TSP1 protein inhibitor as an active ingredient. Particularly, in vascular endothelial cells produced by knocking out a TSP1 gene in induced pluripotent stem cells derived from a Fabry disease patient, of the present invention, the recovery of cell morphology, a decrease in the expression of a TSP1 gene, a decrease in the expression levels of a TSP1 protein and a phosphorylated-SMAD protein, which are anti-angiogenic factors, and an increase in the expression levels of a KDR protein and an eNOS protein, which are angiogenic factors, have been confirmed, and thus a TSP1 gene expression inhibitor or a TSP1 protein activity inhibitor can be effectively used in the treatment of Fabry disease.

Provided is a pharmaceutical composition for the treatment of disorders such as Niemann-Pick disease and GM1 gangliosidosis which are caused by the storage of cholesterol, such as lysosomal storage disease. Also provided is a method for screening for said pharmaceutical compositions that uses iPS cell strains that phenocopy phentotypes of these disorders. Provided is a pharmaceutical composition for the treatment and/or prevention of lysosomal storage disease, characterized by containing hydroxypropyl-γ-cyclodextrin as an active ingredient. Also provided are an iPS cell strain derived from patients suffering from intractable disorders and prepared using a new temperature-sensitive Sendai virus vector, and a screening method for pharmaceuticals using said iPS cell strain.