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.

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.

Some embodiments of the present invention generally relate to devices and methods for determining and/or isolating cells. For example, one aspect is generally directed to methods and devices for detecting, identifying, counting, and/or potentially sorting cells of interest in blood or other biological sample. In some embodiments, blood samples (or other biological fluids) may be treated with signaling entities, such as pH-sensitive entities, that change color or otherwise produce a signal in suitable internal environments. For example, certain cells, such as cancer or fetal cells, may have differences in intracellular pH compared to other cells, which can be detected using pH-sensitive entities. In certain embodiments, the cells may be sorted based on such signaling entities; for example, illumination of cells in a suitable machine for sorting cells (e.g., using fluorescent light) may allow determination of the cells, which may also be recovered or isolated for further manipulation in some cases.

The present invention provides for the first time the identification of fetal neural exosomal biomarkers isolated from maternal plasma useful in diagnosing fetal neurodevelopmental outcomes. The invention also provides the identification of neonatal neural exosomal biomarkers isolated from neonatal plasma useful in diagnosing neonatal neurodevelopmental outcomes The present invention therefore provides methods, kits and systems for diagnosing fetal neurodevelopmental outcomes, by examining relevant proteins and RNA in fetal neural exosomes isolated from a maternal plasma and neonatal neural exosomes isolated from neonatal plasma.

The present invention relates to a pharmaceutical composition for the prevention or treatment of CFC (cardiofaciocutaneous) syndrome comprising a TGF- signaling pathway inhibitor or a BMP signaling pathway activator. The treatment of SB-431542 or BMP4 protein was confirmed to increase the ALP activity and bone mineral deposition in the osteoblasts originated from the induced pluripotent stem cells derived from CFC syndrome patients. Thus, the TGF- signaling pathway inhibitor containing SB-431542 or the BMP signaling pathway activator containing BMP4 protein can be effectively used for the prevention or treatment of CFC syndrome.

Provided herein are processes for detecting oligosaccharides in a biological sample. In specific instances, the biological sample is provided from an individual suffering from a disorder associated with abnormal glycosaminoglycan accumulation.

The present invention relates to solid supports that are used for the storage and further processing of biological materials. The invention is particularly concerned with solid supports which have at least one surface coated with a chemical that enhances the recovery of the biological material from the support. Methods of preparing and using the solid supports are also described.

Provided herein are methods, systems and kits for detection of certain placental proteins, such as PAPP-A and ADAM-12, for example, in a serum sample from an individual to classify gestational ages above and below a specific threshold, such as for use in determining for use in determining gestational age for making clinical or personal decisions without ultrasound.

Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.

Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus.