Human Genetics News
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CD Genomics Unveils Advanced Mitochondrial Diseases Panel Sequencing Service
CD Genomics, a leading biotechnology company specializing in genomics and sequencing, has announced the launch of its advanced Mitochondrial Diseases Panel Sequencing services. This new panel enables rapid and accurate detection of mutations in mitochondrial DNA (mtDNA) that are associated with a wide range of mitochondrial disorders. Mitochondrial diseases are a complex and heterogeneous group ...
By CD Genomics
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CD Genomics Optimized Cancer Hotspot Panel Sequencing Service for Cancer-Related Research
Based on rich experience in genomic analysis, CD Genomics has developed a specialized platform for targeted sequencing of cancer-related genes to accelerate research on disease pathogenesis, disease identification, biomarker discovery, targeted drug development, etc. The company has optimized its Cancer Hotspot Panel Sequencing service to meet the most challenging research process. Cancer is ...
By CD Genomics
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ViGeneron presents preclinical data on intravitreal gene therapy of Stargardt disease at ESGCT
Efficient transfer of larger gene via ViGeneron’s proprietary technology platforms REVeRT and vgAAV ViGeneron advances its preclinical programs for Stargardt disease and Retinitis Pigmentosa into IND-enabling activities and clinical stage development ViGeneron GmbH, a next-generation gene therapy company, today announced the presentation of preclinical data on its program VG801 in ...
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CD Genomics Expands Its Sequencing Portfolio with the Launch of Whole Exome Sequencing
CD Genomics is a world-leading genomics services company that continues to innovate in sequencing solutions for the genomics industry, covering genotyping, library construction, bioinformatics, microarrays, mutagenesis analysis, and more. CD Genomics is pleased to offer whole exome sequencing services, which can help scientists discover disease-related mutation sites more accurately. Exomes are ...
By CD Genomics
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Eikonoklastes Therapeutics and Forge Biologics Announce Viral Vector Contract Development and AAV Manufacturing Partnership
Eikonoklastes Therapeutics, a preclinical biotech company developing treatments for today’s most challenging diseases, and Forge Biologics, a gene therapy-focused contract development and manufacturing organization, today announced a manufacturing partnership that will advance Eikonoklastes’ AAV-based gene therapy, ET-101, into clinical trials for the treatment of patients with ...
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Ray Therapeutics and Forge Biologics Expand Their Viral Vector cGMP Partnership to Encompass Plasmid DNA Manufacturing
Ray Therapeutics, a biotechnology company developing optogenetic gene therapies for patients with retinal degenerative conditions, and Forge Biologics, a gene therapy-focused contract development and manufacturing organization, announced further collaboration for their manufacturing partnership to include clinical stage plasmid DNA production to support Ray Therapeutics’ lead optogenetics ...
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Emmaus Life Sciences Announces Launch of Full-Service Telehealth Solution
Emmaus Life Sciences, Inc. (OTQXC: EMMA), a commercial-stage biopharmaceutical company and leader in the treatment of sickle cell disease, today announced the launch of an innovative full-service telehealth solution (https://www.endarirx.com/ask-physician) with its strategic partners, including Asembia LLC, US Bioservices Corporation and UpScriptHealth. The telehealth program capitalizes on the ...
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Emmaus Life Sciences Presented Positive Real-World Data on the Efficacy of Endari in Preventing Acute Complications from Sickle Cell Disease at the 62nd Annual Scientific Meeting of the British Society for Haematology
Emmaus Life Sciences, Inc. (OTCQX: EMMA), a commercial-stage biopharmaceutical company and leader in the treatment of sickle cell disease, today announced real-world data on Endari®, the company’s prescription-grade L-glutamine oral powder, in preventing acute complications from sickle cell disease (SCD) and hemolysis in pediatric and adult patients in French Guiana and Qatar. The data ...
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Vertex Advances VX-147 Into Pivotal Clinical Development for People With APOL1-Mediated Kidney Disease
Single pivotal trial to initiate later this month targets the broad patient population with two APOL1 mutations and proteinuric kidney disease Pathway for accelerated approval using an interim analysis at Week 48 of eGFR slope, supported by reduction in proteinuria Final analysis evaluating eGFR slope at approximately two years serves as basis for U.S. approval Vertex Pharmaceuticals ...
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Ocugen, Inc. Announces U.S. FDA Acceptance of Investigational New Drug Application to Initiate a Phase 1/2 Clinical Trial for Gene Therapy Candidate OCU400 to Treat Inherited Retinal Degeneration
Gene therapy candidate has potential to address a large number of retinitis pigmentosa and Leber congenital amaurosis gene mutations with a single product Trial to start in Q1 2022 will enroll patients with mutations in NR2E3 or RHO genes MALVERN, Pa., Dec. 09, 2021 (GLOBE NEWSWIRE) -- Ocugen, Inc. (NASDAQ: OCGN), a biopharmaceutical company focused on discovering, developing, and ...
By Ocugen, Inc.
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Emmaus Life Sciences Announces Partnership with UpScript to Provide Telehealth Solutions to Sickle Cell Disease Patients
Emmaus Life Sciences, Inc. (OTCQX: EMMA) a commercial-stage biopharmaceutical company and leader in the treatment of sickle cell disease, today announced a partnership with UpScript IP Holdings, LLC. (UpScript), to offer telehealth solutions to sickle cell disease patients, expanding access to Endari, Emmaus’ prescription L-glutamine oral powder for the treatment of sickle cell disease. ...
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Creative Proteomics Offers Untargeted Metabolomics Service for Academia and Various Industries
Metabolomics, a division of Creative Proteomics, is dedicated to providing cutting-edge LC-MS based metabolomics services for biomedical research institutions, biotechnology and pharmaceutical companies. Creative Proteomics has deep industry and business process expertise, global resources, and a good reputation in providing contract services specialized for metabolomics. Recently, the company ...
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New SARS-CoV-2 Variants II RT-PCR assay
Despite the slow evolutionary rate of SARS-CoV-2 relative to other RNA viruses, its massive and rapid transmission during the COVID-19 pandemic has enabled it to acquire significant genetic diversity since it first entered the human population. This led to the emergence of numerous variants, some of them recently being labeled “variants of concern” (VOC), due to their potential impact ...
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Creative Enzymes Launches Native Porcine Prolidase for Research and Diagnostic Use
As an excellent supplier and manufacturer located in New York, Creative Enzymes has recently launched native porcine prolidase used for research and diagnosis. Relying on its professional team and the most advanced technology, as well as high-quality products and services, it has won a good reputation all over the world Prolidase has an important role in recycling proline and collagen ...
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Delivering gene therapy’s promise
The human body consists of trillions of cells, each possessing their own copy of DNA that provides the blueprint for making a human. Despite sharing the same DNA, different cells activate a varied mix of genes within them to enable differentiation into various tissues and organs. For millions of people, unfortunately, some of these genes do not function properly, resulting in diseases and ...
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Eyevensys Receives FDA Orphan Drug Designation for EYS611 for Treatment of Retinitis Pigmentosa
Eyevensys, a privately held, clinical-stage biotechnology company developing non-viral gene therapies for ophthalmic diseases, today announced the U.S. Food and Drug Administration (FDA) has granted an orphan-drug designation (ODD) for EYS611 for the treatment of retinitis pigmentosa (RP). Eyevensys is developing EYS611, a DNA plasmid that encodes for the human transferrin protein, to benefit ...
By Eyevensys
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Eurofins Biomnis and Seqone Partner to Improve Clinical Access to Whole Exome Testing
Eighty percent of rare diseases are genetic in origin and result from a small number of genetic mutations. Identifying these variations is essential in diagnosing the diseases and can dramatically improve patient care. Making Whole Exome sequencing more affordable to improve diagnostic efficiency Since 2017, Eurofins Biomnis has offered “Whole Exome” sequencing which, starting from ...
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Surgeon Explains the Importance of Preserving the Breast During Cancer Treatment through Education, the Latest Technology—and an Artistic Touch
Dr. Elizabeth Revesz has a unique background as an artist and sculptor. She was able to translate her precision, and her ability to see things in three dimensions, into a highly successful career in medicine. But once in the medical field, Dr. Revesz went further to find her true calling. “Medicine is great, but surgery is actually where I feel the most comfortable,” the physician ...
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AB2 Bio announces readiness for recruitment in pivotal Phase 3 trial of Tadekinig alfa, a novel human recombinant interleukin-18 binding protein, in children with genetic diagnosis of NLRC4-MAS mutation or XIAP deficiency, with amended design in the U.S.
AB2 Bio Ltd, a Swiss advanced clinical-stage biotech company, specialized in developing innovative therapies for the treatment of severe systemic autoinflammatory diseases, announced today that a single-arm open label design with a randomized withdrawal phase for its ongoing pivotal Phase 3 trial under an Investigational New Drug (IND) Application for its product candidate Tadekinig alfa, has ...
By AB2 Bio Ltd.
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NIEHS Scientists Identify the Immunity Proteins that cause a majority of DNA Damage in Several Types of Human Cancers
New research published online August 10 in the journal Nature Genetics found that a mutation-causing enzyme known at APOBEC3A (A3A) may be the main cause of mutations in certain cancers. Previous work from other groups implicated another APOBEC enzyme, known as APOBEC3B (A3B). Corresponding author Dmitry Gordenin, Ph.D., head of the NIEHS Mechanisms of Genome Dynamics Group, will be available ...
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