Genetic testing

Myriad Genetics Announces Patent Granted for SneakPeek® Snap Device

Retrieved on: 
Wednesday, March 20, 2024
MYGN, PCR, Arm, Genetic testing, Patent, Risk, Genetics, DNA, Snap, Myriad Genetics, Doctor of Philosophy, Medicine, Male, Pharmaceutical industry

11,932,907, titled Fetal Sex Determination Using Capillary Blood From Upper Arm, provides protection for Myriad’s SneakPeek Snap® products in the U.S through 2040.

Key Points: 
  • 11,932,907, titled Fetal Sex Determination Using Capillary Blood From Upper Arm, provides protection for Myriad’s SneakPeek Snap® products in the U.S through 2040.
  • Consumers place the Snap device on their arm, press the button, and the sample is collected in one to four minutes.
  • “We view this patent grant as recognition of our innovative approach to fetal sex testing using PCR-based techniques with any push-button blood collection device,” stated Dale Muzzey, PhD, Chief Scientific Officer at Myriad Genetics.
  • “This patent grant promotes SneakPeek Snap exclusivity in the US market through at least 2040 and provides an opportunity for licensing agreements with leading push-button blood collection device suppliers, positioning us as a strategic partner.”

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: 
Thursday, March 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: 
Thursday, March 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.

Love for Liam Foundation to Host the Third Annual Liam Johnson Memorial Golf Outing & Benefit Dinner on May 10, 2024

Retrieved on: 
Tuesday, March 12, 2024
Research, Epilepsy, Friends, Love, Genetic testing, Memory, CHOP, Partnership, ENGIN, Genetics, Patient, Child, Volunteering, Family, Liam, Pharmaceutical industry

The Love for Liam Foundation was formed by Heather and Kyle Johnson in memory of Liam Johnson who was diagnosed with early infantile epileptic encephalopathy.

Key Points: 
  • The Love for Liam Foundation was formed by Heather and Kyle Johnson in memory of Liam Johnson who was diagnosed with early infantile epileptic encephalopathy.
  • Funding goes directly to the Epilepsy Neurogenetics Initiative (ENGIN) at the Children’s Hospital of Philadelphia (CHOP) where Liam was cared for.
  • In its inaugural year in 2022, The Liam Johnson Memorial Golf Outing & Benefit Dinner raised over $75,000 for ENGIN Research.
  • ENGIN continues to deliver the highest level of care and targeted treatment to epilepsy patients and families.”
    To learn more about the Love for Liam Foundation, visit the website and follow the LinkedIn page.

China Genetic Testing Market Report 2024-2032 Featuring BGI, Berry Genomics, Daan Gene, WuXi NextCODE, Annoroad Gene Technology, and WuXi PharmaTech - ResearchAndMarkets.com

Retrieved on: 
Wednesday, March 27, 2024
Technology, Medical Devices, Hospitals, Science, Genetics, Nursing, Medical Supplies, Biotechnology, Health, Health Technology, Health Insurance, Other Science, Research, Other Technology, Insurance, Stem Cells, Oncology, Pregnancy, Growth, Genetic testing, COVID-19, Conditional sentence, SWOT, History, Policy, DTC, Service provider, Genetic disorder, DSM-IV codes, Consultant, Ageing, Vaccine

The "China Genetic Testing Market Report by Test Type, Disease, Technology, Service Provider, Testing Sample 2024-2032" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "China Genetic Testing Market Report by Test Type, Disease, Technology, Service Provider, Testing Sample 2024-2032" report has been added to ResearchAndMarkets.com's offering.
  • This report provides a deep insight into the China genetic testing market covering all its essential aspects.
  • What is the breakup of the China genetic testing market based on the testing sample?
  • Who are the key players/companies in the China genetic testing market?

Nucleus Genomics launches to bring whole-genome sequencing to the public

Retrieved on: 
Monday, March 25, 2024
Technology, Research, Medical Devices, Genetics, Biotechnology, Health, Pharmaceutical, Science, Consumer Electronics, Human Genome Project, WGS, Blood pressure, Genomics, Certification, Informatics, Genetic testing, Nucleus, Risk, Human, PRS, DNA, Accreditation, Breast, CAP, Overalls, Facial muscles, Cancer, CLIA, Breast cancer, BRCA2, BMI, BRCA1, Vaccine

Nucleus Genomics , the next-generation genetic testing and analysis company, today announced the launch of its DNA analysis product to bring the benefits of personalized medicine to everyone.

Key Points: 
  • Nucleus Genomics , the next-generation genetic testing and analysis company, today announced the launch of its DNA analysis product to bring the benefits of personalized medicine to everyone.
  • Nucleus will also offer pre-orders for its premium clinical-grade whole-genome sequencing (WGS) service, in which a customer’s entire set of DNA will be read and analyzed.
  • Nucleus is proud to sequence all customer samples in the U.S. on Illumina’s NovaSeq X Plus, the sequencing company’s newest and most innovative high-throughput sequencing instrument.
  • Working with Illumina, Nucleus is leveraging this latest sequencing technology to make WGS broadly accessible to power personalized healthcare.

New KDIGO Guideline Supports Genetic Testing for the Majority of CKD Patients to Establish Cause of Disease

Retrieved on: 
Thursday, March 14, 2024
Oncology, Health, Genetics, Clinical Trials, Research, Science, Biotechnology, Nephrology, Prevalence, Chronic kidney disease, Genetic testing, Disease, CKD, Kidney disease, Patient, CGC, Evaluation, DNA, NTRA, Guideline

The updated guideline includes consensus statements supporting the use of genetic testing to establish the cause of chronic kidney disease (CKD) for a majority of patients with this condition.

Key Points: 
  • The updated guideline includes consensus statements supporting the use of genetic testing to establish the cause of chronic kidney disease (CKD) for a majority of patients with this condition.
  • The KDIGO guideline, specifically in Practice Points 1.1.4.1 and 1.1.4.2, states that genetic tests should be used, among other factors, to establish cause for CKD, and that genetic testing can impact the clinical management of people with CKD.
  • The guideline also lists specific gene categories, aligned with Natera’s Renasight gene panel, that are actionable for CKD patients.
  • “KDIGO makes it clear that most CKD patients and healthcare providers would prefer to identify the underlying cause of disease, which should include a genetic diagnosis when such tests are available,” said Maggie Westemeyer, MS, CGC, and director of clinical genetic services at Natera.

Alnylam Launches Hereditary ATTR (hATTR) Amyloidosis Campaign to Help Shorten Time to Diagnosis for Inherited and Rapidly Progressive Disease

Retrieved on: 
Wednesday, March 13, 2024
Science, Other Science, Research, Pharmaceutical, General Health, Health, Genetics, Other Health, Diagnosis, Alnylam Pharmaceuticals, Dizziness, Medication, Learning, Weakness, Genetic testing, Disease, TTR, Risk, Human, Patient, Common, Knowledge, Constipation, Diarrhea, Child, Amyloidosis, MBA, MPH, Heart, RNA interference, Carpal tunnel syndrome, Therapy, Multimedia, Family, Pharmaceutical industry

“Family history is considered one of the most important risk factors for health problems.

Key Points: 
  • “Family history is considered one of the most important risk factors for health problems.
  • “It took seeing nine doctors over seven years for me to finally receive a diagnosis of hATTR amyloidosis,” said Christine, a Family Health History Road Trip participant who is living with hATTR amyloidosis.
  • If I had, I could have potentially been diagnosed and started on a disease management plan much earlier.”
    With an inherited disease like hATTR amyloidosis that progresses rapidly, early diagnosis is crucial.
  • A genetic test can determine whether a person carries one of the more than 120 variants in the TTR gene associated with hATTR amyloidosis.

Global Immune Thrombocytopenia Drug Market Report 2024 with Analysts' Recommendations - Collaboration Initiatives with Healthcare Providers and Amplify Development of IV Drugs for Chronic Applications - ResearchAndMarkets.com

Retrieved on: 
Tuesday, March 12, 2024
Biotechnology, Pharmaceutical, Health, Hospital, TPO, Diagnosis, Research, PCR, Flow cytometry, Prevalence, Genetic testing, Disease, Porter's five forces analysis, Drug discovery, Incidence, Patient, SWOT, ITP, Autoantibody, Administration, Treatment, Rare disease, Drug development, Safety, Thrombocytopenia, Mimetic theory, USD, Marketing, Polymerase chain reaction, Ageing, Therapy, Pharmaceutical industry

The Global Immune Thrombocytopenia Drug market showcased growth at a CAGR of 21.32% during 2019-2022.

Key Points: 
  • The Global Immune Thrombocytopenia Drug market showcased growth at a CAGR of 21.32% during 2019-2022.
  • Immune Thrombocytopenia Drug Market is being propelled by rising prevalence of immune thrombocytopenia worldwide is a significant driver of the ITP drug market.
  • Technological advancements drive innovation and progress in the global Immune Thrombocytopenia Drug Market, accelerating drug discovery, development, manufacturing, and clinical practice.
  • The report analyses the Immune Thrombocytopenia Drug Market by End-User (Hospitals and Clinics, Specialty Centers, Research and Academic Institutes).

Ambry Genetics Announces a Collaboration with Tempus to Advance Paired Germline and Somatic Testing Services for Medical Oncologists

Retrieved on: 
Tuesday, March 12, 2024
Technology, Genetics, Health Technology, Software, Biotechnology, Pharmaceutical, Health, Data Management, Oncology, Artificial Intelligence, Database, Genetic testing, Disease, Intelligence, Risk, Library, Patient, RNA, DNA, Cancer, Medicine, Genome, Biology, Clinical trial, Neoplasm, Genomics, Liquid biopsy, HRD, Therapy, Collection, Physician

Ambry Genetics (Ambry), a leader in clinical diagnostic testing, and Tempus , a leader in artificial intelligence and precision medicine, announced today that they have entered into a strategic collaboration to offer best-in-class, comprehensive, germline and somatic testing services.

Key Points: 
  • Ambry Genetics (Ambry), a leader in clinical diagnostic testing, and Tempus , a leader in artificial intelligence and precision medicine, announced today that they have entered into a strategic collaboration to offer best-in-class, comprehensive, germline and somatic testing services.
  • As part of the agreement, Ambry is performing germline sequencing assays for Tempus, powered by Ambry’s CancerNext® and CancerNext-Expanded® assays.
  • “Tempus has a powerful offering for tissue and liquid biopsy DNA and RNA profiling and somatic testing.
  • Now, with our germline testing and variant assessment expertise behind Tempus xG and xG+, we are poised to create a future where paired somatic and germline testing is the standard.