Trisomy

Global Non-Invasive Prenatal Testing (NIPT) Market Analysis Report 2023: A $9.37 Billion Market by 2028 - Industry Trends, Share, Growth, Insight, Impact of Inflation, Company Analysis - ResearchAndMarkets.com

Retrieved on: 
Friday, October 20, 2023
Biotechnology, Health, Medical Devices, Trisomy, Laboratory, Insurance, Plasma, DSM-IV codes, Prenatal care, Incidence, Pregnancy, Diagnosis, Prevalence, NIPT, Research, Entrepreneurship, ELISA, Chromosome, Mother, Point-of-care testing, NGS, Ecosystem, Hospital, Overalls, Safety, Investment, Patient, Parent, DNA, Dietary supplement, Medical imaging, Pharmaceutical industry, Medical device, Growth

The "Non-Invasive Prenatal Testing (NIPT) Market, Size, Global Forecast 2023-2030, Industry Trends, Share, Growth, Insight, Impact of Inflation, Company Analysis" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Non-Invasive Prenatal Testing (NIPT) Market, Size, Global Forecast 2023-2030, Industry Trends, Share, Growth, Insight, Impact of Inflation, Company Analysis" report has been added to ResearchAndMarkets.com's offering.
  • The global NIPT market is experiencing substantial growth, partly attributed to expanded insurance coverage and reimbursement policies worldwide.
  • The dominance of the high- and average-risk segments in the global Non-invasive Prenatal Testing (NIPT) market is due to their specific needs.
  • Diagnostic centers experience significant growth in the global Non-invasive Prenatal Testing (NIPT) market due to their specialized expertise and equipment.

Yourgene Health Launches MagBench Automated DNA Extraction Instrument and Kit for NIPT Workflows

Retrieved on: 
Tuesday, September 5, 2023
Research, Medical Devices, Women, Baby, Maternity, Genetics, Biotechnology, Health, Consumer, Science, DNA, Workflow, AIM, Nucleic acid thermodynamics, Fetus, Decontamination, Genetic distance, Kit, Plasma, Trisomy, Risk, NIPT, Automation, Fine chemical, Dietary supplement

Yourgene Health plc (“Yourgene”, AIM: YGEN), a leading international molecular diagnostics group, today launched the Yourgene® MagBench™ Automated DNA Extraction Instrument and Kit.

Key Points: 
  • Yourgene Health plc (“Yourgene”, AIM: YGEN), a leading international molecular diagnostics group, today launched the Yourgene® MagBench™ Automated DNA Extraction Instrument and Kit.
  • MagBench offers a simple, fast, and cost-efficient, bench-top robotic cell-free DNA (cfDNA) extraction workstation optimised for Yourgene’s Sage 32 NIPT Workflow.
  • The MagBench Automated DNA Extraction Instrument is easy to use, quick to install and provides users with an intuitive touchscreen user interface with built-in protocols, offering fast run times and flexible sample throughput to meet the laboratory’s testing needs.
  • Dr Rob Henke, Vice President of Sales, Asia-Pacific at Yourgene Health, said: “Yourgene is committed to delivering best-in-class NIPT solutions, where precision and quality assurance are key.

Several Down syndrome features may be linked to a hyperactive antiviral immune response – new research

Retrieved on: 
Monday, June 5, 2023
People, Infection, CRISPR, Lupus, Hallucination, Ventricular septal defect, Tofacitinib, Attention deficit hyperactivity disorder predominantly inattentive, Speech, JAK, Embryo, COVID-19, Spectrum, Quality of life, Skull, Research, Brain, Gene expression, DSM-IV codes, Cell, Life expectancy, Down syndrome, Hypertension, Protein, Risk, Immune system, Cancer, Institutionalisation, Viral, Mouse, Interferon, Safety, Gene, Memory, Trisomy, Genome, Pharmaceutical industry, Dietary supplement, Vaccine

In the early 1900s, less than 20% of newborns with Down syndrome survived past age 5.

Key Points: 
  • In the early 1900s, less than 20% of newborns with Down syndrome survived past age 5.
  • In the U.S. today, more than 90% of babies with this condition live past age 10 and have a life expectancy of nearly 60 years.
  • On the other hand, people with Down syndrome tend to have lower levels of hypertension and certain types of cancers.

When too much of a good thing is bad

    • While interferons do trigger a beneficial immune response against viral infections, chronic interferon hyperactivity could have detrimental effects.
    • Notably, four of the six human interferon receptor genes are located on chromosome 21.
    • Because people with Down syndrome have three copies of chromosome 21, they also have three copies of the interferon receptor genes on it.
    • Overall, our findings suggest that the tripling of interferon receptor genes may cause a number of key traits of Down syndrome.

Therapeutic implications and future directions

    • It also supports the possibility of using drugs that attenuate this response to treat some of the negative health effects of trisomy 21.
    • Our team is currently leading two clinical trials to test the safety and efficacy of one such drug, tofacitinib (Xeljanz).
    • This drug belongs to a class of drugs known as JAK inhibitors used to treat autoinflammatory conditions.

Bionano Reports First Quarter 2023 Results and Highlights Recent Business Progress

Retrieved on: 
Tuesday, May 9, 2023
HRD, Genomics, GAAP, Curie Institute (Paris), Doctor of Philosophy, Acquisition, Investment, Risk, DSM-IV codes, Bone marrow, University, NGS, Spectrum, Mosaic, Research, Whole genome sequencing, LRS, Children's Hospital Los Angeles, WGS, Growth, Hospital, OEM, OGM, NMPA, Trisomy, Total, BGPT, MRKH, DNA, Workflow, Cancer, SOC, Publication, Genetic disorder, Standard of care, University of Toronto, ASD, SAN, National Medical Products Administration, IVD, MD Anderson Cancer Center, Acceleration, Toronto, SVS, Sale, NVIDIA, Female, Breast cancer, Mobile phone, Video game, Medical device, Pharmaceutical industry, Dietary supplement, Renewable energy, Augusta University

GAAP gross margin for the first quarter of 2023 was 28%, compared to 15% from the first quarter of 2022.

Key Points: 
  • GAAP gross margin for the first quarter of 2023 was 28%, compared to 15% from the first quarter of 2022.
  • First quarter 2023 non-GAAP¹ gross margin was 30%, compared to 15% from the first quarter of 2022.
  • First quarter 2023 GAAP operating expense was $39.9 million, compared to $30.8 million in the first quarter of 2022.
  • First quarter 2023 non-GAAP operating expense was $33.6 million, compared to $24.2 million in the first quarter of 2022.

Institute for Supply Management® Honors John Blascovich with 2023 J. Shipman Gold Medal Award

Retrieved on: 
Tuesday, May 9, 2023
Trade Wars, Certification, University, Sensory Processing Disorder Foundation, AEP, Stanford University, Howard University, Business, Research, Pandemic, MBA, Harvard Business Review, Disability studies, Down syndrome, Organization, CFOS, New York University School of Professional Studies, Massachusetts Institute of Technology, Shipman, Student, ISM, Theodore Levitt, Connecticut Business Hall of Fame, Collection, Gold, Trisomy, CONFIG.SYS, Kearney (consulting firm), Assessment, Benchmarking, New York University Stern School of Business, Conference, Film industry, Management

GRAPEVINE, Texas, May 9, 2023 /PRNewswire/ -- Institute for Supply Management® (ISM®) named John Blascovich, partner at Kearney, the 2023 J. Shipman Gold Medal Award winner in recognition of his distinguished service to the supply management profession.

Key Points: 
  • GRAPEVINE, Texas, May 9, 2023 /PRNewswire/ -- Institute for Supply Management® (ISM®) named John Blascovich, partner at Kearney , the 2023 J. Shipman Gold Medal Award winner in recognition of his distinguished service to the supply management profession.
  • Blascovich was honored during the 2023 Shipman Award ceremony at ISM World 2023, ISM's annual international supply management conference, held May 7-10 in Grapevine, Texas.
  • "The Shipman award is a great honor; I think of it as the 'Hall of Fame' in the field of supply management.
  • Blascovich is a mentor and trusted adviser to CPOs and emerging professionals alike in the field of supply chain management.

Minnesota Twins Starting Outfielder Michael A. Taylor Runs Home Run Challenge To Support The Rare Disease Community

Retrieved on: 
Monday, April 10, 2023
Taylor, Friends, Laughter, Kansas City Royals, Hope, Washington Nationals, World Series, 2017 Washington Nationals season, Gold Glove Award, Uplifting Athletes, Rare, Gold, Minnesota Twins, Diamond, Diagnosis, FDA, Family, Athlete, Nationals, Trisomy, Major League Baseball, Disease, Birth control, Twin

That's why Minnesota Twins outfielder Michael A. Taylor has launched a season-long home run challenge to support Uplifting Athletes and the rare disease community.

Key Points: 
  • That's why Minnesota Twins outfielder Michael A. Taylor has launched a season-long home run challenge to support Uplifting Athletes and the rare disease community.
  • Minnesota Twins player Michael A. Taylor launched a season-long homerun challenge to support the rare disease community.
  • Between his match and his supporter's pledges, Taylor is aiming to raise over $150,000 for the rare disease community.
  • Taylor comes to the Minnesota Twins from the Kansas City Royals as part of a trade during the offseason.

Bionano Announces First Study Using OGM to Discover Structural Variants with Potential Relevance to Genetic Diagnosis of MRKH Syndrome, a Syndrome Impacting Reproductive System Development in 1 in 4,500 Females

Retrieved on: 
Wednesday, March 22, 2023
Vagina, Pregnancy, FISH, CMA, Augusta University, Genomics, Parent, KT, SVS, Mosaic, Research, Doctor of Philosophy, Uterus, Disorder, SV, Karyotype, CNV, Chromosomal translocation, Patient, SNP, Fertility, OGM, Gene, Syndrome, PCR, Trisomy, Female, Disease, Pharmaceutical industry, Microscope, Birth control, Medical imaging, Vaccine, Agriculture, MRKH

MRKH is one of several forms of Müllerian agenesis, a disorder that affects 1 in 4,500 females and impacts patients’ reproductive systems and potential ability to carry a pregnancy.

Key Points: 
  • MRKH is one of several forms of Müllerian agenesis, a disorder that affects 1 in 4,500 females and impacts patients’ reproductive systems and potential ability to carry a pregnancy.
  • Molecular diagnosis is helpful in determining the best treatment for MRKH, but because genetic causes are largely unknown, research into this prevalent class of disorders is key to enabling effective therapies.
  • In this study, researchers used OGM to analyze MRKH samples to detect a variety of SVs that may be relevant to MRKH’s genetic etiology in a single assay.
  • We believe the authors’ findings that indicate mosaicism, including for a trisomy 12, could be involved in the pathogenesis of MRKH were particularly significant,” commented Erik Holmlin, PhD, president and chief executive officer of Bionano.

Ridiculous Excuses Not to Be Inclusive

Retrieved on: 
Wednesday, March 15, 2023
Caregiver, Convention on the Rights of Persons with Disabilities, WDSD, Education, National Down Syndrome Society, Exercise, National Coordinator for Change, Life, Organization, Ableism, Friends, Disability, Down's Syndrome Association, Culture, System, Intellectual, Freedom, Down syndrome, United Nations Convention Against Corruption, Partnership, Indiana Production, Communication, World Down Syndrome Day, Sport, Parent, Trisomy, Best Buddies International, Taboo, Cell, Angels Unawares, Creativity, Nintendo DSi, SMALL, Cannes Lions International Festival of Creativity, Knowledge, United Nations Convention, Light, Person, Public policy, Human, London International Festival of Theatre, UN, Music, Workplace, Down, Client, Consumer electronics, Nightclub, Entertainment, Insurance, Residential care, TikTok

To mark the occasion, CoorDown presents RIDICULOUS EXCUSES NOT TO BE INCLUSIVE, the international awareness campaign created in collaboration with SMALL NY and TikTok.

Key Points: 
  • To mark the occasion, CoorDown presents RIDICULOUS EXCUSES NOT TO BE INCLUSIVE, the international awareness campaign created in collaboration with SMALL NY and TikTok.
  • WATCH VIDEO
    In a world increasingly focused on inclusion, there are still those who roll out ridiculous excuses not to be inclusive.
  • Some of these excuses were so incredibly ridiculous that they deserved to be brought to life and properly celebrated.
  • These are some of the ridiculous excuses given, excuses that deny people who have Down syndrome the chance to fully participate.

Noninvasive Prenatal Testing: The Luna Prenatal Test for Isolation of Circulating Fetal Cells Early in Pregnancy, Upcoming Webinar Hosted by Xtalks

Retrieved on: 
Monday, March 6, 2023
CVS, Walker–Warburg syndrome, Health, Blood, Cell, Pregnancy, Research, Fetus, Confined placental mosaicism, Luna, Trisomy, Amniocentesis, Risk, DSM-IV codes, Knowledge, R, Noninvasive prenatal testing, POMT1, Genetics, Dietary supplement, Genetic distance, Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

TORONTO, March 6, 2023 /PRNewswire-PRWeb/ -- For decades, many groups around the world have pursued the isolation and genetic analysis of circulating fetal cells from maternal peripheral blood as an improved form of noninvasive prenatal testing. However, the exceeding rarity of these cells in the blood of pregnant women has proven a challenging obstacle in the establishment of a reliable test methodology.

Key Points: 
  • In this free webinar, learn about a breakthrough in the reliable isolation and successful analysis of circulating fetal cells for noninvasive prenatal testing early in pregnancy.
  • The featured speaker will discuss how the Luna Prenatal Test isolates and analyzes single circulating fetal cells early in pregnancy.
  • Attendees will learn how the Luna Prenatal Test makes a positive difference in patient care and reproductive health.
  • In collaboration with Juno Genetics, the Luna Prenatal Test isolated circulating fetal cells from a pregnancy at risk of Walker-Warburg Syndrome.

JUNO DIAGNOSTICS™ EXPANDS ITS PRODUCT PORTFOLIO WITH THE LAUNCH OF JUNO HAZEL™ PLUS AND ANNOUNCES EARLY ACCESS PROGRAM (EAP) FOR INNOVATIVE NIPS TESTS

Retrieved on: 
Monday, January 9, 2023
Klinefelter syndrome, Turner syndrome, Blood, XYY syndrome, Commercial Operating System (COS), Prenatal care, Genetic testing, SAN, Phlebotomy, EAP, XXY, Pregnancy, Patient, Hazel, Edwards, Special access program, Physician, NIPT, XYY, NIPS, Trisomy, Down syndrome, Edwards syndrome, Genetic counseling, Juno, Pharmaceutical industry

Similar to the Juno Hazel™ screening test, Juno Hazel™ Plus leverages JunoDx's proprietary Sample Collection Kit to improve early access to high-quality genetic testing without the high costs, long lead times, and phlebotomy requirements of venous-based NIPS.

Key Points: 
  • Similar to the Juno Hazel™ screening test, Juno Hazel™ Plus leverages JunoDx's proprietary Sample Collection Kit to improve early access to high-quality genetic testing without the high costs, long lead times, and phlebotomy requirements of venous-based NIPS.
  • Juno Hazel™ Plus offers a comprehensive prenatal screening solution by screening for common chromosomal trisomies, sex chromosome aneuploidies, and fetal sex.
  • "The expansion of our product portfolio with the launch of our second NIPS test , Juno Hazel™ Plus, represents a significant milestone for JunoDx™.
  • To ensure every pregnancy has the opportunity to benefit from our product portfolio, the time is now to create and launch a formalized Early Access Program.