Systems and methods for performing quantitative histopathology analysis for determining tissue potency are disclosed. According to some embodiments, a method training a tissue classifier is provided. According to the method, training the tissue classifier includes generating feature fingerprints of detected nuclei within slide images in a control library and clustering the slide images based on their corresponding feature fingerprints. According to some embodiments, a method for utilizing the trained tissue classifier is provided. According to the method, the trained tissue classifier determines whether tissue in an unknown slide image corresponds to slide images clustered during the training of the tissue classifier.

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors more than 150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency (IGD) disorders. Here, the inventors reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, they demonstrate that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, the inventors show that the decrease in Emm expression in several IGD patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system and have important implications for understanding the biological function of human free GPI.

Early detection of lysosomal storage diseases (LSDs) including Mucopolysaccharidosis Type I (MPS I) and Pompe Disease can greatly improve patient outcome as each disease can be fatal once symptoms emerge. Screening for MPS I and Pompe Disease using biological samples including dried blood spots (DBS), buccal swab, peripheral blood mononuclear cells (PBMCs), or white blood cells (WBCs) is described. The disclosed methods and assays provide a robust way to screen newborns for LSDs. The disclosed methods and assays can also allow rapid prediction of whether a patient with LSD will develop an immune response to enzyme replacement therapy (ERT), thus improving treatment for patients with LSDs. The disclosed methods and assays can also further reduce the number of false positives caused by pseudo deficiency cases of LSD, such as MPS I and Pompe Disease.

Disclosed herein are methods and compositions for prognosing or diagnosing an obstructive renal dysfunction or ureteropelvic junction obstruction (UPJO) in a subject, involving detecting in a urine sample from a subject one or more proteins selected from the group consisting of Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR); Nicotinate-nucleotide pyrophosphorylase [carboxylating] (QPRT); Prostaglandin reductase 1 (PTGR1); Vascular cell adhesion protein 1 (VCAM1); and Ficolin-2 (FCN2), or detectable portions thereof to identify the subject as at risk of or having an obstructive renal dysfunction or UPJO.

The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing.

The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing.

A method for detecting chromosomal aberration including adding an anti-CD3 antibody to a human pluripotent stem cell-derived T lymphocyte and culturing the T lymphocyte, and detecting chromosomal aberration in the cultured T lymphocyte is described. Also described is a method for evaluating inducibility by a test substance of chromosomal aberration including adding an anti-CD3 antibody to a human pluripotent stem cell-derived T lymphocyte and culturing the T lymphocyte, adding a test substance to the cultured T lymphocyte, measuring frequency of chromosomal aberration in the T lymphocyte after addition of the test substance, and evaluating inducibility of chromosomal aberration by comparing the frequency of chromosomal aberration with the frequency standard value in the control group.

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like.

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject.

Methods and apparatus for separating, concentrating and/or detecting molecules based on differences in binding affinity to a probe are provided. The molecules may be differentially modified. The molecules may be differentially methylated nucleic acids. The methods can be used in fields such as epigenetics or oncology to selectively concentrate or detect the presence of specific biomolecules or differentially modified biomolecules, to provide diagnostics for disorders such as fetal genetic disorders, to detect biomarkers in cancer, organ failure, disease states, infection or the like.