Medical genetics

Myriad Genetics Reports Strong First Quarter 2024 Financial Results; Achieves 12% Revenue Growth Year-Over-Year; Significantly Improved Year-Over-Year Net Loss and Generated Positive Adjusted EBITDA

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tisdag, maj 7, 2024
Sale, American College, Average cost, MRD, Test management, Myriad Genetics, Intermountain, Research, Forecasting, CLIA, Medical genetics, Genetics, DNA, DSM-IV codes, AAPP, Patient, Operating cost, ASPS, Women's health, Genomics, Cancer, GAAP, Pharmaceutical industry

SALT LAKE CITY, May 07, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced financial results for its first quarter ended March 31, 2024 and reiterated its previously issued outlook on business performance for the full-year 2024.

Key Points: 
  • Adjusted gross margin in the first quarter of 2024 was 68.5%, an increase of 80 basis points year-over-year.
  • Operating loss in the first quarter of 2024 was $27.9 million, improving $24.3 million year-over-year; adjusted operating loss in the first quarter of 2024 was $0.6 million, improving $21.3 million year-over-year.
  • The Oncology business delivered revenue of $79.4 million in the first quarter of 2024.
  • Prolaris first quarter 2024 revenue grew 9% year-over-year, benefiting, in part, from improved payer coverage.

Cache Raises Seed Financing to Advance its Biomolecule Storage Technologies

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tisdag, maj 7, 2024
Technology, Research, Genetics, Health Technology, Biotechnology, Health, Data Management, Other Science, Science, Pillar, Harvard University, University, Cancer, Cache, International Society, American College, Cell, Laboratory, AUC, Harvard Business School, University Health Network, Biological engineering, Genetic, Software, Biophysical environment, Area studies, Biochemistry, RNA, Doctor of Philosophy, University Medical Center, Pathology, San Francisco Bay Area, Intelligence, ACMG, Stanford University, George Church, Bioethics, Chemistry, Faculty, MIT, MBA, SBIR, Yale School of Management, Temperature, Ageing, National Science Foundation, Dicarboxylic acid, Biology, Medical genetics, Nucleation, Computer data storage

Cache DNA, Inc. , a life sciences company revolutionizing biological sample and data storage infrastructure, today announced the closing of its seed round.

Key Points: 
  • Cache DNA, Inc. , a life sciences company revolutionizing biological sample and data storage infrastructure, today announced the closing of its seed round.
  • The funds will help power R&D and support commercial development efforts and key partnerships to bring their solutions to market.
  • “Over the past three decades, sequencing technologies have evolved drastically.
  • It feels like every month, a new sequencing method is developed,” says Michael Becich, Cache CEO.

Genomenon Partners with Pharming to Advance APDS Diagnosis

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torsdag, maj 2, 2024
Mortality, American College, Probability, Laboratory, ANN, Survival, APDS, Disorder, Partnership, Genetic testing, PIK3R1, Molecular diagnostics, Disease, ACMG, Lymphoma, Patient, Bronchiectasis, AMP, Primary immunodeficiency, Caregiver, Genome, Immunodeficiency, Diagnosis, Infection, PIK3CD, Medicine, Activated, Medical genetics, Gene, Medical device

ANN ARBOR, Mich., May 2, 2024 /PRNewswire-PRWeb/ -- Genomenon, a genomic intelligence company, has partnered with Pharming Group in an effort to make variant data on the PIK3CD and PIK3R1 genes available to genetic testing labs, as well as clinicians and researchers, worldwide. This data enables accurate molecular diagnoses and supports the precise medical management of the disease. The partnership also improves the ability of diagnostic laboratories and clinicians to resolve variants of uncertain significance (VUSs) and advances Genomenon's mission to curate the human genome.

Key Points: 
  • APDS, or Activated PI3K delta syndrome, is a rare primary immunodeficiency affecting approximately 1 to 2 people per million worldwide.
  • As the symptoms of APDS can be associated with a variety of conditions, patients typically experience a median 7-year diagnostic delay.
  • "Through our AI-driven technology and genomic expertise, Genomenon has produced the world's most comprehensive variant landscape on PIK3CD and PIK3R1.
  • This curated genetic dataset is being made available to the community through Genomenon's Mastermind Genomic Intelligence Platform to help inform and accelerate the diagnosis for patients with APDS," said Mike Klein, Genomenon CEO.

Parent Project Muscular Dystrophy Awards $250,000 to Support Clinical Research Network for Duchenne Babies Identified by Newborn Screening

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måndag, april 29, 2024
University, Bangladesh Technical Education Board, NBS, American College, REDCap, Hospital, NIH, Male, MD, Partnership, Research, Natural history, Life, ACMG, Patient, PPMD, Database, Diagnosis, Duchenne muscular dystrophy, NYS, Clinical trial, Medical genetics, Infant, Pharmaceutical industry

The initiative aims to support newborn screening implementation efforts, inform clinical care guidelines for young patients, and lay the foundation for expansion of the network across states.

Key Points: 
  • The initiative aims to support newborn screening implementation efforts, inform clinical care guidelines for young patients, and lay the foundation for expansion of the network across states.
  • In October 2023 , New York Governor Hochul signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state.
  • Dr. Lee's project, referred to as Baby Duchenne, aims to establish a collaborative clinical network and database to enroll and prospectively follow all babies identified by newborn screening in NYS with genetically confirmed Duchenne.
  • Dr. Lee's team will leverage the currently established clinical network of pediatric neuromuscular centers initially designated for spinal muscular atrophy newborn screening to build a network infrastructure to capture all Duchenne diagnoses identified via newborn screening in NYS.

New Myriad Genetics Study Published in Prenatal Diagnosis Shows High Positive Predictive Value for 22q11.2 Microdeletion Syndrome Using Prequel® Prenatal Screen

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tisdag, april 16, 2024
Patient, DiGeorge syndrome, American College, MYGN, Pregnancy, Test management, Myriad Genetics, Ventricular septal defect, FACMG, MD, Doctor of Philosophy, Genetic testing, Medical genetics, Genetics, DNA, SNP, PPV, Genomics, Medicine, FACOG, Dietary supplement

“This is now the second publication—one from Myriad and another from a separate laboratory5—showing exemplary PPV for whole-genome-sequencing-based pcfDNA screening.

Key Points: 
  • “This is now the second publication—one from Myriad and another from a separate laboratory5—showing exemplary PPV for whole-genome-sequencing-based pcfDNA screening.
  • This study enables greater confidence for providers when they receive positive screening results for 22q11.2 microdeletion.
  • 22q11.2 deletion syndrome (22q11.2DS), often called DiGeorge syndrome, is caused by deletions on chromosome 22 (22q11.2 microdeletions).
  • The American College of Medical Genetics and Genomics recently recommended that 22q11.2DS screening be offered to all pregnant patients.

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

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torsdag, mars 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.

Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for Developmental Delay

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tisdag, april 2, 2024
Diagnosis, WGS, Disease, FACMG, Broad Institute, Genetic testing, Fragile X syndrome, Massachusetts General Hospital, MIT, Harvard University, CMA, Patient, Medical genetics, Research, Mortality, Laboratory, DGX, Senior, Genome, American College, Saliva, Intellectual disability, Hospital, Whole genome sequencing, ACMG, Blood, Quest Diagnostics, Antibiotics

SECAUCUS, N.J., April 2, 2024 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), a leader in diagnostic information services, and Broad Clinical Labs, the world expert in whole genome sequencing (WGS), today announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

Key Points: 
  • "We are delighted to bring the experience and expertise of Broad Clinical Labs to this innovative collaboration with Quest.
  • "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."
  • While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test.
  • Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 600,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease.

Data-Science-Powered Research by Seattle Children's and Microsoft Shows Promise of Predicting SIDS and Other Causes of Sudden Death

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torsdag, mars 28, 2024
Gene, Sudden death, Herbal cigarette, SIDS, Learning, Medical genetics, Child, Infant, Electronic cigarette, Oxygen, Rutgers University, Research institute, Microsoft, Partnership, Risk, International, Pediatrics, Death, Fatality, Seattle Children's, Preterm birth, Database, American Journal, Research, AI, University, Pregnancy, DRS, Cardiac arrest, Hypoxia, Genetic testing, Developing Story, Mortality, SUID, Doctor of Philosophy, Life, Smoking, Summit, Pacific Northwest, Medical device

The event was sponsored by The Center for Integrative Brain Research at Seattle Children's and Microsoft AI for Good Lab.

Key Points: 
  • The event was sponsored by The Center for Integrative Brain Research at Seattle Children's and Microsoft AI for Good Lab.
  • Among the many topics attendees discussed was groundbreaking new research that suggests genetic testing at birth may hold the promise of detecting SIDS risk — and potentially other causes of sudden death later in life.
  • The Aaron Matthew SIDS Research Foundation funds the database, which is maintained and managed at Seattle Children's Research Institute.
  • "Scientific research sometimes leads to surprises," said Jan-Marino Ramirez , PhD, Director of the Center for Integrative Brain Research at Seattle Children's.

CCRM FERTILITY WELCOMES REGIONAL DIRECTOR OF CLINICAL REPRODUCTIVE GENETICS, DR. JASMINE ALY, TO JERSEY CITY TEAM

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onsdag, mars 27, 2024
ART, WRNMMC, Obstetrics, PCOS, Gynaecology, Obesity, Polycystic disease, Reproductive Sciences, Science, NHGRI, Genetic distance, FACOG, Genetics, COVID-19, Patient, Empathy, Medical genetics, Cooper University Hospital, Research, African Americans, USUHS, Fibroid, Reproduction, Assisted reproductive technology, IRMS, NIH, Polycystic ovary syndrome, Outline of health sciences, Reproductive endocrinology and infertility, Publication, Fertility, REI, Birth control

JERSEY CITY, N.J., March 27, 2024 /PRNewswire/ -- CCRM Fertility, a leading pioneer in the fertility treatment, research, and science industry, announced today that Jasmine Aly, MD, FACOG, will be joining  CCRM | IRMS in New Jersey. Dr. Aly holds the rare distinction of being a triple-specialized physician as an Obstetrician-Gynecologist, Reproductive Endocrinologist, and Medical Geneticist.

Key Points: 
  • JERSEY CITY, N.J., March 27, 2024 /PRNewswire/ -- CCRM Fertility, a leading pioneer in the fertility treatment, research, and science industry, announced today that Jasmine Aly, MD, FACOG, will be joining  CCRM | IRMS in New Jersey.
  • As Regional Director of Clinical Reproductive Genetics, Dr. Aly will bring her expertise to the CCRM Fertility team and aims to leverage her comprehensive fellowship training in genetics to further advance the field and better serve patients.
  • As an esteemed reproductive endocrinologist, she will utilize cutting-edge  technology and innovative scientific techniques to ensure patient success rates continue to rise.
  • "Dr. Aly's expertise in genetics is an invaluable attribute that will redefine care at CCRM | IRMS," notes CCRM Fertility CEO, Bob LaGalia.

Children's Mercy Kansas City and Geneyx Inc. Announce Collaboration to Advance Genomic Research and Analysis

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onsdag, mars 13, 2024
Genomics, Informatics, FACMG, Patient, Abraxis BioScience, CGC, DSM-IV codes, Research, Doctor of Philosophy, High fidelity, Mercy, Exome, Medical genetics, Nursing

and WILMINGTON, Del., March 13, 2024 /PRNewswire/ -- Children's Mercy Kansas City, one of the leading independent pediatric health organizations, and Geneyx Inc. are pleased to announce a collaboration aimed at advancing genomic research and analysis.

Key Points: 
  • and WILMINGTON, Del., March 13, 2024 /PRNewswire/ -- Children's Mercy Kansas City, one of the leading independent pediatric health organizations, and Geneyx Inc. are pleased to announce a collaboration aimed at advancing genomic research and analysis.
  • This collaboration formalized through a Master Software Subscription and Services Agreement, enables  Children's Mercy  to utilize Geneyx Analysis in its research institute to analyze, interpret, annotate, and report Long Read sequencing data originated by 5-base HiFi sequencing of PacBio technology.
  • "We are excited about this collaboration that signifies a significant step forward in leveraging cutting-edge technology to further genomic research and clinical care," said Emily Farrow, PhD, CGC, FACMG, Assistant Clinical Director, Clinical Genetics, Children's Mercy Kansas City.
  • Geneyx Analysis will play a crucial role in enhancing our ability to analyze and interpret long read genomic data, ultimately leading to advancements in pediatric healthcare."