Bioscreening & Diagnostics LLC

Ray O Bahado-Singh

Kypros Nicolaides

The present disclosure describes significant methylation changes in multiple genes and multiple metabolites in body fluid in response to TBI. Gene pathways affected included several known to be involved in neurological and brain function. A large number of good to excellent biomarkers for the detection of TBI was identified. The combination of epigenomic, clinical and metabolomic markers in different combinations overall were highly accurate for the detection of pediatric concussion using Artificial Intelligence-based techniques.

Method for detection of traumatic brain injury

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.

Metabolomic prediction of congenital heart defect during pregnancy, newborn and pediatric stages

Particular aspects of the invention confirm significant differences in methylation of cytosine bases in many loci throughout the genome in cases of congenital heart defect (CHD) compared to normal cases without CHD. Additional aspects provide novel methods for the prediction of congenital heart defects that can be applied to embryos, fetuses, newborns and different stages of postnatal life including childhood and any time in later postnatal life, is disclosed. The method is applicable not only to deoxyribonucleic acid (DNA) found in body fluids such as blood, urine, sputum, amniotic fluid and other tissues of affected individuals in pre- and post-natal life. Statistical techniques for estimating an individual's risk of having CHD by comparing the degree of methylation of specific cytosine loci throughout the DNA in an individual being tested and comparing this to the percentage of cytosine at sites in two populations of individuals: one with CHD and the other a reference population of normal cases without CHD, are described. Individual risk for having specific types of CHD or CHD overall can also be determined based on the invention.

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Gross Pointe Shores, MI, United States of America

Ray O Bahado-Singh