The present invention provides markers and methods for determining whether a subject, particularly a human subject, has or is at risk of developing, a disease such as cardiovascular disease, diabetes mellitus, insulin resistance, metabolic syndrome, NAFLD (Nonalcoholic Fatty Liver Disease) or NASH (Nonalcoholic Steatohepatitis) (e.g., within the ensuing year, two years, and/or three years). The present application also relates to the use of such markers and methods for monitoring the status of such diseases in a subject or the effects of therapeutic agents on subjects with such diseases.

Disclosed herein are methods based on the identification of reduced Hsp70 levels in PBMC samples serving as a biomarker for diseases presenting with a reduced level of Hsp70, such as lysosomal storage diseases, neurodegenerative diseases and muscular diseases.

Provided is a long-acting PCSK9-specific binding protein and application thereof. Provided is an MV072 protein with unique complementarity-determining regions, i.e., a binding protein specifically binding to proprotein convertase subtilisin kexin type 9 (PCSK9). The protein can specifically bind to PCSK9, effectively inhibit the function of PCSK9 and reduce plasma LDL cholesterol level. Further provided is an application of the binding protein in treating diseases related to or influenced by the function of PCSK9.

The present application relates to a method of screening a subject (and/or treating a subject) for a disease. The application further relates to cells and kits for determination of a disease. Also contemplated are treatments, including those based on a personalized cell model system that determines a subject's threshold for a disease and their personalized treatment.

Methods of promoting hypoxia or the hypoxia response for the treatment or prevention of mitochondrial dysfunction and oxidative stress disorders are described. Methods for screening for targets of mitochondrial dysfunction and oxidative stress disorders are also described.

The present invention relates to methods for identifying, assessing, preventing, and treating metabolic disorders and modulating metabolic processes using PM20D1 and N-lipidated amino acids.

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.

A subject's level of soluble urokinase type plasminogen activator (suPAR) is checked as part of a risk stratification procedure in a hospital emergency department to help decide whether to admit the subject to the hospital, keep the subject in as a patient, or discharge a patient.

This invention provides compositions of active highly phosphorylated lysosomal sulfatase enzymes, their pharmaceutical compositions, methods of producing and purifying such lysosomal sulfatase enzymes and compositions and their use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the lysosomal sulfatase enzyme.

The present invention relates to methods for the diagnosis or prognosis of conditions caused by defects in cholesterol bio synthesis, such as Smith-Lemli-Opitz syndrome (SLOS), in particular to early diagnostic methods including in utero methods. In one aspect, the method comprises detecting in a biological sample levels of delta-5 bile acid conjugated with 2-(acetylamino)-2-deoxy-D-glucose (GlcNAc) of formula (I)

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