Search Results - Diagnostic

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Improved Blood Transfusion Screening with iPSC-derived Reagents

Red Blood Cell (RBC) Reagents with Rare Antigen Phenotypes for Prevention of Alloimmunization Reaction in SCD PatientsMarket NeedSickle cell disease is an autosomal recessive blood disorder genes that leads to the affected patient’s hemoglobin is abnormal, causing RBCs to become hard, sickle-shaped, and less efficient at carrying oxygen. There...

Published: 7/8/2019 | Inventor(s): Stella Chou

Keywords(s):

Category(s): Diagnostic, Research Tool/Reagent

Quantitative phenotyping to automate diagnosis of autism spectrum disorder (ASD)

Using machine learning to identify features of ASDMarket NeedAutism spectrum disorder is a developmental disorder that affects communication and behavior. Usually, the disorder is first detected through observation within the first 36 months of age looking for specific developmental milestones. Usually, it is the parents who first raise concerns of...

Published: 6/25/2019 | Inventor(s): Robert Schultz

Keywords(s):

Category(s): Diagnostic, Medical Device, Software

Malabsorption Blood Test Extension Beyond Pancreatic Based Diagnosis

Fat Malabsorption Diagnostic Drink and Blood TestLess than 72 hours, No Stool Sample RequiredTECHNOLOGY OVERVIEWFat malabsorption results from various diseases such as pancreatitis, pancreatic cancer and cystic fibrosis. If left undiagnosed, fat malabsorption leads to severe malnutrition, nutritional deficiencies, unwanted weight loss and chronic diarrhea....

Published: 12/14/2018 | Inventor(s): Virginia Stallings

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Category(s): Diagnostic

Discovery Of Novel CVID Loci Using The Exome SNP Chip Platform

Center for Applied Genomics (CAG) at CHOPThe Center for Applied Genomics is one of the world's largest genetics research programs, and the only center at a pediatric hospital to have large-scale access to high-throughput genotyping technology. There are over 50 active disease projects – both internally and in collaboration with researchers across...

Published: 12/11/2018 | Inventor(s): Hakon Hakonarson, Jin Li

Keywords(s):

Category(s): Diagnostic

Genome- And Phenome-Wide Association Analyses Uncovers MET as a Susceptibility Gene of Cerebral Palsy

Published: 2/27/2018 | Inventor(s): Hakon Hakonarson, John Connolly, Jin Li, Frank Mentch

Keywords(s):

Category(s): Diagnostic

Detect Mulitple Types of Epithelial Tumors and Determine Cancer Sage with ONe Biomarker

ZEB1 expression levels predict metastatic potential Market NeedClinicians and pathologists need to determine the stage of cancer progression in a patient to determine the appropriate course of treatment. Currently, there are two methods to determine the stage of a patient’s cancer. The first involves taking a biopsy of the suspected tissue mass,...

Published: 8/14/2019 | Inventor(s): Thomas Genetta

Keywords(s): Epithelial Tumors

Category(s): Diagnostic

Diagnostic Test for Cornelia de Lange Syndrome (CdLS)

Identify Patients and Carriers of CdLS Market NeedThe Cornelia de Lange syndrome (CdLS) is a dominantly inherited multisystem developmental disorder that includes growth and cognitive retardation, upper extremity abnormalities, gastroesophageal dysfunction, cardiac ophthalmologic genitourinary anomalies, hirsutism and characteristic facial features....

Published: 5/10/2017 | Inventor(s): Ian Krantz

Keywords(s): Cornelia de Lange Syndrome (CdLS)

Category(s): Diagnostic

Detection of HER2 in Urine to Diagnose Lupus Nephritis (LN)

Point-of-care biomarker for Systemic Lupus NephritisMarket NeedSystemic Lupus Erythematosus (SLE) is an autoimmune disease that varies in severity in which the patient’s immune system mistakenly attacks healthy tissues in the body. Lupus Nephritis (LN) is kidney inflammation, which is a complication of SLE that causes decreased kidney function....

Published: 7/12/2019 | Inventor(s): Kathleen Sullivan, Ana Patricia Costa Reis

Keywords(s): Chronic Disease, Diagnostics

Category(s): Diagnostic

Non-invasive biomarker specific for Crohn's disease diagnosis

Serum miRNA panel for non-invasive diagnosis and monitoring of Crohn’s diseaseMarket NeedApproximately 1.6 billion people in the US alone have inflammatory bowel disease, which includes Crohn’s disease. These chronic diseases, which have a significant impact on quality of life, can be treated but not cured. According to estimates based on...

Published: 9/14/2017 | Inventor(s): Joshua Friedman, Adam Zahm, Meena Thayu, Nicholas Hand, Edwin De Zoeten

Keywords(s): Chronic Disease, Diagnostics

Category(s): Diagnostic