Chromosomal abnormalities

GLOBAL Applauds House Appropriations Subcommittee for Approving $15 Million Increase for NIH INCLUDE Initiative and Related Down Syndrome Research as Part of FY2022 Budget

Retrieved on: 
Tuesday, July 13, 2021
Clinical medicine, Branches of biology, Syndromes affecting the heart, Medicine, Chromosomal abnormalities, Down syndrome, Intellectual disability, Prenatal testing

The INCLUDE Initiative has been a resounding success, run out of the Office of the NIH Director with support from NIH Champions Drs.

Key Points: 
  • The INCLUDE Initiative has been a resounding success, run out of the Office of the NIH Director with support from NIH Champions Drs.
  • The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome.
  • Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and medical care.
  • GLOBAL's widely circulated medical publications include GLOBAL Medical Care Guidelines for Adults with Down Syndrome, Prenatal Testing and Information about Down Syndrome , and the award-winning Down Syndrome WorldTM magazine.

Global Genetic Testing Market Research Report 2021: Market Witnesses Sluggish Growth during COVID-19, Set to Record Exponential Growth Post-COVID - ResearchAndMarkets.com

Retrieved on: 
Tuesday, July 13, 2021
Baby, Maternity, Science, Other Science, Consumer, Branches of biology, Clinical medicine, Medicine, Medical genetics, Medical tests, Alternatives to animal testing, Genetic testing, Chromosomal abnormalities, Prenatal testing, Genetic disorder, Chromosome abnormality, Cystic fibrosis

The "Genetic Testing - Global Market Trajectory & Analytics" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Genetic Testing - Global Market Trajectory & Analytics" report has been added to ResearchAndMarkets.com's offering.
  • Globally, prenatal testing market is expected to rise due to the increasing risk of chromosomal abnormalities associated with increasing maternal age.
  • One of the key growth drivers for new born and prenatal genetic testing is increased awareness about different chromosomal and genetic disorders.
  • Diagnostic genetic testing detects the presence of a certain genetic disease, like Huntington`s disease or cystic fibrosis through the detection of specific gene alteration.

Global Acute Lymphoblastic Leukemia (ALL) Clinical Landscape Market Report 2021: Marketed And Pipeline Drugs, Trials, Probability Of Success, 10-Year Disease Prevalence Forecast, Deals, Revenues - ResearchAndMarkets.com

Retrieved on: 
Thursday, June 17, 2021
Health, Oncology, Life sciences, Novartis, Pharmaceutical companies, Acute lymphoblastic leukemia, Leukemia, Companies, Chromosomal abnormalities, Acute leukemia

The "Market Spotlight: Acute Lymphoblastic Leukemia (ALL)" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Market Spotlight: Acute Lymphoblastic Leukemia (ALL)" report has been added to ResearchAndMarkets.com's offering.
  • This Market Spotlight report covers the Acute Lymphoblastic Leukemia (ALL) market, comprising key marketed and pipeline drugs, clinical trials, recent events and analyst opinion, upcoming events, probability of success, a 10-year disease incidence forecast, and licensing and acquisition deals, as well as presenting drug-specific revenue forecasts.
  • The report estimates that in 2018, there were 86,600 incident cases of acute lymphoblastic leukemia (ALL) worldwide, and expects that number to increase to 93,500 incident cases by 2027.
  • Novartis has the highest number of completed clinical trials for ALL, with 47 trials.

Global Hepatorenal Syndrome Market to 2030 - Insight, Epidemiology and Industry Forecasts - ResearchAndMarkets.com

Retrieved on: 
Monday, March 8, 2021
Health, Infectious diseases, Syndromes, Clinical medicine, Organ systems, Hepatorenal syndrome, Syndromes affecting the heart, HRS, Chromosomal abnormalities, Down syndrome

The "Hepatorenal Syndrome - Market Insight, Epidemiology and Market Forecast - 2030" drug pipelines has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Hepatorenal Syndrome - Market Insight, Epidemiology and Market Forecast - 2030" drug pipelines has been added to ResearchAndMarkets.com's offering.
  • The Hepatorenal Syndrome (HRS) market report provides current treatment practices, emerging drugs, market share of the individual therapies, current and forecasted HRS symptoms market size from 2017 to 2030 segmented by seven major markets.
  • The report also covers current Hepatorenal Syndrome (HRS) symptoms treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the market.
  • The disease epidemiology covered in the report provides historical as well as forecasted Hepatorenal Syndrome (HRS) epidemiology segmented as the Total Incident cases of Hepatorenal Syndrome (HRS), Diagnosed Incident Cases of Hepatorenal Syndrome (HRS), and Type-specific cases of Hepatorenal Syndrome (HRS).

German Accreditation of Laboratory Developed Tests on Bionano’s Saphyr System Accelerates Utilization in Clinical Diagnostics

Retrieved on: 
Thursday, September 24, 2020
Branches of biology, Genetics, Biology, Chromosomes, Cytogenetics, Chromosomal abnormalities, Structural variation, Gene duplication, Chromosomal translocation, Accreditation, Chromosomal inversion, MVZ

The approval accredits LDTs developed by MVZ Martinsried for the detection of the following types of structural variants (SVs): translocations, inversions and duplications.

Key Points: 
  • The approval accredits LDTs developed by MVZ Martinsried for the detection of the following types of structural variants (SVs): translocations, inversions and duplications.
  • Inversions and duplications are also often implicated in cancers and all three types are known to occur in constitutional genetic disorders.
  • "MVZ Martinsrieds receipt of this first European accreditation for use of Saphyr-based LDTs is an important milestone towards broader accreditation and adoption across Europe and other regions.
  • Achieving this accreditation in Germany, the largest market in Europe, is also significant because the German accreditation process follows a very high standard," said Erik Holmlin, chief executive officer of Bionano Genomics.

Zynerba Pharmaceuticals Receives Orphan Drug Designation for Cannabidiol for the Treatment of 22q11.2 Deletion Syndrome

Retrieved on: 
Thursday, September 17, 2020
Health, Organ systems, Pharmaceuticals policy, Articles, Chromosomal abnormalities, Biotechnology law, Drug discovery, Orphan drug, Cannabidiol, Orphan Drug Act, DiGeorge syndrome, Cannabinoid

DEVON, Pa., Sept. 17, 2020 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals, Inc. (NASDAQ:ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for rare and near-rare neuropsychiatric disorders, today announced that the U.S. Food and Drug Administration has granted orphan drug designation for cannabidiol (CBD) for use in treating 22q11.2 deletion syndrome (22q).

Key Points: 
  • DEVON, Pa., Sept. 17, 2020 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals, Inc. (NASDAQ:ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for rare and near-rare neuropsychiatric disorders, today announced that the U.S. Food and Drug Administration has granted orphan drug designation for cannabidiol (CBD) for use in treating 22q11.2 deletion syndrome (22q).
  • We are pleased that the FDA shares our sense of urgency regarding the development of effective therapeutics in this important patient population.
  • Under the Orphan Drug Act (ODA), the FDA may grant orphan drug designation to drugs intended to treat rare diseases or conditions that affect fewer than 200,000 individuals in the U.S.
  • As the second most common chromosomal disorder after Down syndrome, 22q is caused by a small missing piece of the 22nd chromosome.

Data Presented at European Society of Human Genetics (ESHG) Conference Shows Saphyr System has 100% Concordance with Standard Cytogenetics in Leukemias and Constitutional Aberrations

Retrieved on: 
Thursday, June 11, 2020
Branches of biology, Genetics, Chromosomal abnormalities, Chromosomes, Chromosomal inversion, Chromosomal translocation, Cytogenetics

Additionally, he presented two research cases of families with undiagnosed genetic disorders, which were solved using the Saphyr system.

Key Points: 
  • Additionally, he presented two research cases of families with undiagnosed genetic disorders, which were solved using the Saphyr system.
  • In all six cases, the Saphyr system identified the pathogenic variants, including balanced and unbalanced translocations, a paracentric inversion and mosaic duplication.
  • In total 19 patient samples were analyzed, and the Saphyr system confirmed all known large rearrangements in these samples.
  • The Saphyr system showed 100% concordance with cytogenetic methods in these 40 samples and allowed for precise breakpoint mapping.

Global Non-invasive Prenatal Testing (NIPT) Market, Forecast to 2025 - ResearchAndMarkets.com

Retrieved on: 
Tuesday, May 26, 2020
Branches of biology, Genetics, Chromosomal abnormalities, Syndromes, Syndromes affecting the heart, Cytogenetics, NIPT, Prenatal testing, Patau syndrome, Down syndrome, Patau, Trisomy

The "Global Non-invasive Prenatal Testing (NIPT) Market By Application (Trisomy (Down syndrome, Edwards syndrome, Patau syndrome), Turner syndrome, Rh Blood type and Others), By Product, By Technology, By End User, By Region, Forecast & Opportunities, 2025" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Global Non-invasive Prenatal Testing (NIPT) Market By Application (Trisomy (Down syndrome, Edwards syndrome, Patau syndrome), Turner syndrome, Rh Blood type and Others), By Product, By Technology, By End User, By Region, Forecast & Opportunities, 2025" report has been added to ResearchAndMarkets.com's offering.
  • The Global Non-Invasive Prenatal Testing (NIPT) Market is expected to witness a robust growth during the forecast period.
  • Increasing genetic disorders in pre-borne children and growing population are the major factors for the growth of the market.
  • The Global Non-Invasive Prenatal Testing (NIPT) Market is segmented based on application, product, technology, end-user and region.

Extra chromosomes in cancers can be good or bad

Retrieved on: 
Monday, February 24, 2020
Branches of biology, Genetics, Chromosomal abnormalities, Cytogenetics, Chromosomes, Oncology, Aneuploidy, Cancer, Chromosome, Anaphase lag, Chromosome instability

A tumor cell can contain an abundance of DNA mutations and most have the wrong number of chromosomes.

Key Points: 
  • A tumor cell can contain an abundance of DNA mutations and most have the wrong number of chromosomes.
  • As cancer progresses, so does aneuploidy.Some advanced tumors can harbor cells that have accumulated more than 100 chromosomes, instead of 46 in normal cells.
  • High levels of aneuploidy are associated with aggressive cancers and a poor prognosis for patients.
  • While survival is poorest among patients whose cancers have a high level of aneuploidy overall, the team identified certain chromosomes for which extra copies were associated with increased survival.

Myriad’s Prequel™ Prenatal Screen Demonstrates High Performance Across All Fetal-Fraction Levels in Women Undergoing Noninvasive Prenatal Screening

Retrieved on: 
Monday, November 11, 2019
Branches of biology, Genetics, Medicine, Chromosomal abnormalities, Midwifery, Down syndrome, Intellectual disability, Syndromes affecting the heart, Prenatal development, Chromosome abnormality, Prenatal testing, Ravinder Dhallan

The key finding is that Prequel without a fetal-fraction threshold achieves high accuracy, while maintaining a low test-failure rate of one in 1000.

Key Points: 
  • The key finding is that Prequel without a fetal-fraction threshold achieves high accuracy, while maintaining a low test-failure rate of one in 1000.
  • The Prequel Prenatal Screen uses a whole genome sequencing approach to identify chromosomal abnormalities including trisomies 21, 18 and 13.
  • The Myriad Prequel Prenatal Screen is a noninvasive prenatal screen (NIPS) that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome.
  • The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.