Human Phenotype Ontology

London North West University Healthcare NHS Trust Finds Digital Way Forward with PhenoTips' Genomic Health Record

Retrieved on: 
Thursday, January 25, 2024
Technology, Hospitals, Genetics, Health Technology, Software, Practice Management, Biotechnology, Pharmaceutical, Health, Data Management, Ontology, Patient, GHR, Hospital, Partnership, Trust, HPO, Genomics, Human Phenotype Ontology, Phenotype, Medicine, NHS, EPR

London North West University Healthcare NHS Trust (LNWH) unites multiple geographically distinct hospitals with PhenoTips’ cloud-hosted Genomic Health Record (GHR) to digitize genomics and deliver on "Our Way Forward" 5-year plan.

Key Points: 
  • London North West University Healthcare NHS Trust (LNWH) unites multiple geographically distinct hospitals with PhenoTips’ cloud-hosted Genomic Health Record (GHR) to digitize genomics and deliver on "Our Way Forward" 5-year plan.
  • LNWH’s ambitious 5-year strategy, “Our Way Forward”, will see the Trust harness new integrated care systems and promote acute provider collaboration across the four hospitals that comprise the Trust.
  • LNWH’s adoption of PhenoTips’ Genomic Health Record furthers digitization by providing an integrated genomic patient and family database that enables collaboration and improves the unification and accessibility of genomic care.
  • “We are thrilled by this opportunity to work with London North West University Healthcare NHS Trust towards their vision of accessible, digital, and patient-centered care.

CENTOGENE Biodatabank Reveals Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort

Retrieved on: 
Wednesday, July 12, 2023
Ontology, European Journal of Human Genetics, C1, NPC1, Research, HPO, Human genetics, Genetic distance, Genetics, Patient, Niemann–Pick disease, CNTG, Human Phenotype Ontology, European Journal, Disease, PPCS, Pharmaceutical industry, Medical imaging

NPC1 is a rare and severe autosomal recessive disorder, characterized by a range of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date.

Key Points: 
  • NPC1 is a rare and severe autosomal recessive disorder, characterized by a range of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date.
  • To gain a deeper understanding of the disease, researchers carried out an analysis using the CENTOGENE Biodatabank, which included clinical, genetic, and biomarker data from NPC1 patients from the past 15 years.
  • “The publication of this landmark study marks a pivotal moment in our understanding of Niemann-Pick type C1 disease patients,” said Professor Peter Bauer, CENTOGENE’s Chief Medical and Genomic Officer.
  • “By assembling the world's largest NPC1 cohort, we have gained unprecedented insights that will fuel further research, clinical development, and ultimately, improved patient outcomes.”
    To read the full study, visit: https://link.centogene.com/npc1-publication

Six long COVID subtypes identified at The Jackson Laboratory

Retrieved on: 
Friday, January 27, 2023
Ontology, Patient, HPO, EHR, Collection, COVID, SARS-CoV-2, Diagnosis, PASC, Human Phenotype Ontology, Hospital, COVID-19, Risk, Therapy, Vertigo, Database, NIH, Robinson, Predoctoral fellow, Jackson Laboratory, Phenome-wide association study, Infection, Multimedia, Research, Pharmaceutical industry

Like primary COVID-19, the affliction, known as post-acute sequelae of SARS-CoV-2 (PASC) or long COVID, has highly variable duration, symptoms and severity.

Key Points: 
  • Like primary COVID-19, the affliction, known as post-acute sequelae of SARS-CoV-2 (PASC) or long COVID, has highly variable duration, symptoms and severity.
  • Jackson Laboratory Professor Peter Robinson , M.D., M.Sc., and Predoctoral Associate Ben Coleman have been investigating long COVID using EHR data from healthcare systems across the United States as part of the National COVID Cohort Collaborative (N3C).
  • Their findings, presented in "Generalisable long COVID subtypes: Findings from the NIH N3C and RECOVER programmes" and published in eBioMedicine , indicate that long COVID does indeed manifest in distinct subtypes that can help stratify patients and inform treatment strategies.
  • And moving forward, stratifying long COVID patients will be important for effective treatment, as it is doubtful that any single approach will generalize well across the subtypes.

Benchmark Genome Study Demonstrates Accuracy of Artificial Intelligence in Rapidly Diagnosing Rare Diseases in Critically Ill Patients

Retrieved on: 
Thursday, October 14, 2021
Research, Technology, Medical Devices, Hospitals, Genetics, Software, Biotechnology, Health, Data Management, Science, Ontology, Community health center, Hospital, Genome Medicine, Tartu University Clinic, Technology, Translational Genomics Research Institute, Diagnosis, Time, LinkedIn, Gene, Genetics, University of Kiel, Lists of diseases, Natural language processing, Doctor of Philosophy, Genomics, Degenerative disease, GEM, Schleswig-Holstein, Health, NICU, Human Phenotype Ontology, Intelligence, Multimedia, Disease, Artificial intelligence, Kiel, NLP, Patient, Doctor of Science, Human genetics, Teaching hospital, University, Institute, CEO, Genetic distance, Twitter, Rady, Rady Children's Hospital, Vaccine, Medical device, Pharmaceutical industry, Medicine

In addition, Fabric GEM ranked specific diseases and conditions associated with these genes to assist clinicians in the ultimate diagnosis of each case.

Key Points: 
  • In addition, Fabric GEM ranked specific diseases and conditions associated with these genes to assist clinicians in the ultimate diagnosis of each case.
  • These findings demonstrate how artificial intelligence (AI) can successfully reduce the burden of gene variant review by clinical geneticists.
  • This study provides the rigorous benchmark validation required for its use in the clinic, showcasing how any hospital can bring informed genomics to their patients.
  • The complete study, titled Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases , can be accessed on the Genome Medicine website.

Genomenon Accelerates Rare and Genetic Disease Research with Mastermind v2.0

Retrieved on: 
Wednesday, November 6, 2019
Medicine, Branches of biology, Health, Alternatives to animal testing, Genetic testing, Medical diagnosis, Rare disease, Human Phenotype Ontology, Draft:Smith Family Clinic for Genomic Medicine, LLC

This new functionality will further accelerate diagnosis of patients with genetic and rare diseases.

Key Points: 
  • This new functionality will further accelerate diagnosis of patients with genetic and rare diseases.
  • The ability to search the genetic literature by symptoms (following the Human Phenotype Ontology, or HPO) helps clinicians narrow their diagnosis to the appropriate disease and treatment.
  • Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.
  • Our flagship product, the Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in reporting genetic testing results.