VUS

Pharming Group reports first quarter 2024 financial results and provides business update

Retrieved on: 
Mercoledì, Maggio 8, 2024
VWAP, VUS, FDA, Phase, Haploinsufficiency, IRP, Iberian languages, Laboratory, Safety, Euronext Amsterdam, Pharmacokinetics, PTEN, Epidemiology, CTLA4, Marketing, World Games, APDS, Health care, MAA, CHMP, Trial of the century, Genetic testing, Disease, Patient, Physician, EMA, Primary immunodeficiency, Ministry, Variant, Committee, MHRA, Diagnosis, Pids, PID, Lymphocyte, Clinical trial, Government, Microsoft Access, Prevalence, Ageing, Pharmaceutical industry

“Pharming delivered a strong first quarter, increasing quarterly revenues by 31% year-over-year to US$55.6 million and keeping the Company on track for our 2024 total revenue guidance of US$280 - US$295 million.

Key Points: 
  • “Pharming delivered a strong first quarter, increasing quarterly revenues by 31% year-over-year to US$55.6 million and keeping the Company on track for our 2024 total revenue guidance of US$280 - US$295 million.
  • Pharming made continued progress in the first quarter of 2024 on leniolisib regulatory filings for APDS patients 12 years of age and older in key global markets.
  • Pharming filed regulatory submissions in Canada and Australia in the third quarter of 2023, and Israel in the second quarter.
  • Pharming announced completion of enrollment in the clinical trial for children ages 4 to 11 years old on April 8, 2024.

Invitae Unveils New Research for Breast Cancer Patients with Variants of Uncertain Significance

Retrieved on: 
Giovedì, Aprile 11, 2024
Breast cancer, VUS, Medical school, Patient, Oncogenomics, Laboratory, OTC, FACMG, Machine learning, Research, Health, REA, Genetic testing, Black, DSM-IV codes, Classification, Society, Cancer, Algorithm, SAN, Gene

SAN FRANCISCO, April 11, 2024 /PRNewswire/ -- Invitae (OTC: NVTA), a leading medical genetics company, today announced new studies to be presented at the American Society of Breast Surgeons Annual Meeting (ASBrS) held in Orlando from April 10-14, 2024. The featured research will highlight how machine learning can reduce variants of uncertain significance (VUS) in patients who have received genetic testing for breast cancer, in addition to results from real world data showing that uncertain results do not lead to an overuse of mastectomies for breast cancer patients.

Key Points: 
  • The featured research will highlight how machine learning can reduce variants of uncertain significance (VUS) in patients who have received genetic testing for breast cancer, in addition to results from real world data showing that uncertain results do not lead to an overuse of mastectomies for breast cancer patients.
  • After validating gene-specific machine learning algorithms, the impact on variant classification was analyzed in patients with breast cancer who underwent hereditary cancer genetic testing from January 2022 - May 2023.
  • Results offer reassurance that variants of uncertain significance in genetic testing results among breast cancer patients do not lead to overuse of breast surgeries, like mastectomies.
  • This study titled, "Real-World Breast Surgery Utilization among Breast Cancer Patients with Germline Variants of Uncertain Significance," examines breast surgery uptake in a large, recent sample of breast cancer patients undergoing genetic testing.

GeneDx to Present Data at the 2024 American College of Medical Genetics (ACMG) Annual Meeting Demonstrating Clinical Superiority of its Exome, Paving the Way for the Future of Genomics

Retrieved on: 
Giovedì, Marzo 14, 2024
Diagnosis, WGS, P130, HZ, P180, Conference, Genetic testing, SLC16A2, CMA, Patient, Medical genetics, Research, A-DNA, Impact, American College, VUS, Fire, ACMG, Syndrome, GeneDx, Analysis, Medical device

STAMFORD, Conn., March 14, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced its scientific contributions at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

Key Points: 
  • STAMFORD, Conn., March 14, 2024 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced its scientific contributions at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.
  • These findings represent improved data quality from pipeline and platform improvements.
  • Through an industry-sponsored session, GeneDx will explore the gap between the availability of the medical genetics workforce and the genetic testing needs of pediatric patients.
  • "We are motivated to continue to push the boundaries of genomics to transform the future of healthcare," said Paul Kruszka, Chief Medical Officer at GeneDx.

Pharming Group reports fourth quarter and full year 2023 financial results

Retrieved on: 
Giovedì, Marzo 14, 2024
Patient, Health care, Epidemiology, Executive Committee, Laboratory, Microsoft Access, Lymphocyte, Clinical trial, European Commission, APDS, MHLW, AEG, Welfare, Ageing, Committee, EMA, Trial of the century, PID, CTLA4, Safety, Pharmacokinetics, Ministry, CHMP, ODD, U.S. FDA, Prevalence, PTEN, Disease, HAE, Immunodeficiency, VUS, Literature, PIK3R1, PMDA, FDA, DSM-IV codes, Diagnosis, Civil service commission, IRP, Haploinsufficiency, Genetic testing, MAA, Autoimmunity, World Games, Iberian languages, Marketing, MHRA, Euronext Amsterdam, PIK3CD, Physician, Pharmaceutical industry

The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.

Key Points: 
  • The U.S. market contributed 97% of 2023 revenues, while the EU and Rest of World contributed 3%.
  • Revenues increased to US$7.9 million in the fourth quarter of 2023, driven by the continued increase in patients on paid therapy, and revenues were US$18.2 million for 2023.
  • Pharming made continued progress in the fourth quarter of 2023 on leniolisib regulatory filings for APDS patients 12 years of age and older in key global markets.
  • Pharming filed regulatory submissions in Canada and Australia in the third quarter of 2023, and Israel in the second quarter.

Audubon Launches Unprecedented Vapor Recovery & Reuse System for EPA Compliance

Retrieved on: 
Martedì, Marzo 26, 2024
Packaging, Engineering, Chemicals, Plastics, Other Energy, Oil, Gas, Manufacturing, Energy, Ethanol, Gasoline, VUS, EPA, Volatile organic compound, NESHAP, CFR, Atmosphere, EPC, HAP

The unprecedented VUS advances vapor recovery functions by not only ensuring compliance with Environmental Protection Agency (EPA) regulations—it transforms toxic waste emissions into power or heat energy.

Key Points: 
  • The unprecedented VUS advances vapor recovery functions by not only ensuring compliance with Environmental Protection Agency (EPA) regulations—it transforms toxic waste emissions into power or heat energy.
  • The proprietary system captures waste vapor emissions according to new, stricter federal regulations and reuses them as an energy source.
  • Unlike traditional methods that merely remove waste vapor, the VUS converts it for power generation, electrical grid support, or renewable feedstock.
  • Audubon will work with its energy and industrial clients to support compliance with these standards for applications such as terminal loading, marine loading, fuel storage, and ethanol production, among others.

FIRST STUDY USING BIOMIMETIC AI DIGITAL TWINS AND MULTIOMICS IN GENETICS RESEARCH

Retrieved on: 
Venerdì, Marzo 29, 2024
Knowledge, Digital Insight, Biomimetics, Gene, Algorithm, Innovation, RKE, Knowledge engineering, Molecular diagnostics, Biomedical Research, Bias, Journal, Research, DNA, NAS, Phenotype, VUS, Brigham and Women's Hospital, Harvard University, Hospital, MUC20, Medical device

In addition to identifying pathogenic DNA variants the research also identified four VUSs potentially associated with the development of endometrial-related disorders.

Key Points: 
  • In addition to identifying pathogenic DNA variants the research also identified four VUSs potentially associated with the development of endometrial-related disorders.
  • "This landmark study demonstrated a way to combine omics and a digital twin ecosystem to understand the molecular mechanism of disease better.
  • In January, Life Sciences Review Magazine awarded RYLTI Top Biomimetic AI Platform of 2024 for its biomimetic AI digital twin ecosystem innovation, hailing the technology for opening new doors to discovery and accelerating the innovation process.
  • "The NAS has described the importance of using digital twins in biomedical research, which requires a toolset without limitations or bias for effective discovery and validation," said Joseph Glick, an award-winning biomimetic AI pioneer and Co-founder/Chief Innovation Officer of RYLTI.

Genomenon Presents Study Identifying 11,000 Gene Disease Relationships Across the Clinical Exome at the ACMG Annual Clinical Genetics Meeting

Retrieved on: 
Giovedì, Marzo 14, 2024
Diagnosis, ANN, Gene, Comparison, Broad Institute, Genetic testing, Disease, Risk, CALM3, Patient, Chromosome, Virginia High School League, Doctor of Philosophy, NIH, Medicine, Genome, VUS, PLA2G6, Literature, ACMG, Data, CALM, Vaccine

ANN ARBOR, Mich., March 14, 2024 /PRNewswire-PRWeb/ -- Genomenon, a leading genomic intelligence company, presented data at the ACMG Annual Clinical Genetics Meeting today demonstrating how computational indexing of millions of published abstracts and full-text references combined with a systematic literature review can be used to rapidly and accurately characterize gene-disease relationships (GDRs) and to resolve variants of uncertain significance (VUS). The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene. Each GDR is accompanied by well-documented scientific evidence curated by Genomenon's team of genetic scientists. Today's presentation shares a milestone in the company's mission to curate the human genome and understand the pathogenicity of any variant for patient diagnosis and precision medicine development.

Key Points: 
  • The study was completed in less than six months and identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene.
  • This need is underscored by the fact that the number of VUS's is growing exponentially due to increased genetic testing and sequencing.
  • The study used a literature-based approach that     gathered variants through Genomenon's Mastermind Genomic Intelligence Platform and variant databases.
  • The study demonstrated that there is only a 27% match of genetic variants listed in current databases and those found in the literature.

Invitae Launches Update to Invitae Generation™: Clinical Variant Modeling Improves Variant Classification

Retrieved on: 
Martedì, Marzo 12, 2024
Gene, Genetic testing, Health, DSM-IV codes, Patient, SAN, DNA, Artificial intelligence, Classification, Hereditary nonpolyposis colorectal cancer, VUS, OTC, Machine learning, Vaccine

SAN FRANCISCO, March 12, 2024 /PRNewswire/ -- Invitae (OTC: NVTA), a leading medical genetics company, today announced the launch of an update to Invitae Generation™ with Clinical Variant Modeling, a novel machine learning approach designed to aid clinical interpretation of genetic testing results and increase the rate of definitive answers for patients. The first of its kind, developed by a multidisciplinary team of computational biologists, machine learning engineers, clinical experts and geneticists, Clinical Variant Modeling methodically leverages clinical information received at the time of testing to improve variant classification and reduce variants of uncertain significance (VUS). This new method represents the latest update to Invitae Generation, the company's state-of-the-art platform that unifies evidence generation and systematic variant classification. This innovation greatly reduces uncertainty for patients and increases the actionability of genetic testing.

Key Points: 
  • The first of its kind, developed by a multidisciplinary team of computational biologists, machine learning engineers, clinical experts and geneticists, Clinical Variant Modeling methodically leverages clinical information received at the time of testing to improve variant classification and reduce variants of uncertain significance (VUS).
  • This new method represents the latest update to Invitae Generation, the company's state-of-the-art platform that unifies evidence generation and systematic variant classification.
  • Clinical Variant Modeling was developed by leveraging Invitae's vast database of information on more than 4 million patients, including over 2 million analyzed DNA variants, and more than 100 million words of clinical descriptions.
  • The initial launch of Clinical Variant Modeling at Invitae specifically includes a model for genes associated with Lynch syndrome, the most common cause of hereditary colorectal cancer1.

GeneDx Reports Fourth Quarter and Full Year 2023 Financial Results and Issues Guidance for Full Year 2024

Retrieved on: 
Martedì, Febbraio 20, 2024
Montefiore, VUS, Genetics in Medicine, Total, Legacy, Abraxis BioScience, Partnership, Exome, DSM-IV codes, WGS, Commercial, GAAP, American College, ACMG, Genome, Genetic testing, Medicaid, Genetics, Google Health, Medical genetics, Publication, NICU, Bank

ET

Key Points: 
  • ET
    STAMFORD, Conn., Feb. 20, 2024 (GLOBE NEWSWIRE) -- GeneDx Holdings Corp. (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today reported its financial results for the fourth quarter and full year of 2023.
  • Exome and genome represented 27% of all test results, up from 16% in the fourth quarter of 2022 and up from 23% in the third quarter of 2023.
  • Adjusted gross margin from continuing operations expanded to 56%, up from 41% in the fourth quarter of 2022 and up from 48% in the third quarter of 2023.
  • Excluding one-time items, representative continuing operations cash burn was $23.9 million in the fourth quarter of 2023.

Invitae to Present Data at the 2024 ACMG Annual Clinical Genetics Meeting

Retrieved on: 
Martedì, Marzo 5, 2024
SAN, VUS, Genotype, Cancer, P572, MSH2, FRCPA, Research, OTC, City, FACMG, Hereditary nonpolyposis colorectal cancer, Medical research, MLH1, PMS2, P22, Disclosure, Arrhythmia, Cardiomyopathy, CGC, RNA, Classification, Infant, Phenotype, American College, Landscape, ACMG, Patient, Genetic testing, Gene, TTN, MMR, Science, Variant, Medical genetics, Laboratory, DNA, Partnership

SAN FRANCISCO, March 5, 2024 /PRNewswire/ -- Researchers from Invitae (OTC: NVTA), a leading medical genetics company, are showcasing their work next week at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada from March 12-16. The meeting's clinical agenda will include presentations on both research and clinical topics that promote the science and practice of clinical genetics and genomics.

Key Points: 
  • SAN FRANCISCO, March 5, 2024 /PRNewswire/ -- Researchers from Invitae (OTC: NVTA), a leading medical genetics company, are showcasing their work next week at the 2024 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Toronto, Canada from March 12-16.
  • The meeting's clinical agenda will include presentations on both research and clinical topics that promote the science and practice of clinical genetics and genomics.
  • "The ACMG Annual Clinical Genetics Meeting is an incredible opportunity for our researchers and collaborators to highlight ongoing scientific advancements to support genetics-informed patient care," said W. Michael Korn, M.D., chief medical officer at Invitae.
  • Invitae plans to present posters (P164 and P073) about Lynch syndrome and VUS in mismatch repair (MMR) genes and multiplex assays of variant effects (MAVEs).