The present disclosure relates to the use of laminin-521. Laminin-521 can maintain stem cells in vitro pluripotency, enable self-renewal, and enable single cell survival of human embryonic stem cells. When pluripotent human embryonic stem cells are cultured on plates coated with recombinant laminin-521 (laminin-11), in the absence of differentiation inhibitors or feeder cells, the embryonic stem cells proliferate and maintain their pluripotency. Methods of enhancing genetic diagnosis by expanding a single stem cell on laminin-521 prior to PCR amplification are disclosed herein.

A composition for the prophylaxis and/or treatment of a developmental disorder which is associated with preterm birth, and a method for the diagnosis and/or determination and/or prediction of the degree of severity of a developmental disorder which is associated with preterm birth.

The present invention provides a panel of at least five clinical analyses or tests (using serum samples) to determine the risk of pediatric acute-onset neuropsychiatric syndrome (PANS) and/or pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS) in an individual. These include enzyme linked immunosorbent assays (ELISAs) to measure antibody titers against neuronal antigens present in the brain; the neuronal antigens include lysoganglioside, tubulin, dopamine receptor D1, dopamine receptor D2, serotonin receptor 5HT2A, and serotonin receptor 5HT2C. Antibody titers against at least four of these neuronal antigens are required in the present methods; preferably antibody tiers against all of these neuronal antigens are measured. A final assay is used to quantify calcium/calmodulin-dependent protein kinase activity using a neuronal cell line. The results of these analyses or tests are then combined using an algorithm to determine whether a PANS or PANDAS diagnosis is appropriate for the individual. Depending on the diagnosis, an appropriate treatment can be determined.

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.

This invention provides methods of diagnosing and treating syndromes of reversion to fetal consciousness in a neonate.

The present invention provides methods in the context of Kawasaki disease including measuring the level of at least one of lipopolysaccharide binding protein, leucine-rich alpha-2-glycoprotein, angiotensinogen and retinol binding protein 4 in a sample derived from a subject.

The present invention is related to the in vitro use of lyso-Gb1 as a draggable target in the development of a drug, and to antagonist of lyso-Gb1 for use in the treatment and/or prevention of a disease, wherein the disease is Gaucher disease or Parkinson's disease

A machine learning classifier that diagnoses autism spectrum disorder (ASD) is described that transforms data obtained from a patient medical history and a patients saliva into data that correspond to a test panel of features, the data for the features including human microtranscriptome and microbial transcriptome data, wherein the transcriptome data are associated with respective RNA categories for ASD. The classifier classifies the transformed data by applying the data to the classifier that has been trained to detect ASD using training data associated with the features of the test panel. The trained classifier includes vectors that define a classification boundary and predicts a probability of ASD based on results of the classifying.

The invention relates to in vivo systems and high throughput screening platform for drugs applicable in inborn error of metabolism (IEM) disorders. More specifically, the invention provides yeast screening system of candidate therapeutic compounds applicable in IEM disorders associated with accumulation of at least one metabolite. The systems of the invention comprise yeast cell/s that carry at least one manipulation in at least one yeast metabolic pathway, that leads to accumulation of said metabolite.

Methods of diagnosis and methods of treatment and prevention for autism spectrum disorder are provided using decoy antigens to maternal brain-reactive antibodies.