# Medical Biochemical Genetics * **Definition:** A branch of medicine that focuses on the diagnosis and management of genetic disorders through the analysis of biochemical processes and the identification of metabolic abnormalities, often involving the study of enzymes, metabolites, and genetic mutations. * **Taxonomy:** Specialties / Medical Biochemical Genetics ## News * Selected news on the topic of **Medical Biochemical Genetics**, for healthcare technology leaders * 1.4K news items are in the system for this topic * Posts have been filtered for tech-related keywords | Date | Title | Source | | --- | --- | --- | | 12/30/2024 | [**Precision Medicine Software Research Analysis Report 2024-2030: Increasing Adoption of Genomic Data Analysis Software Spurs Growth, Integration of Multi-Omics Data Strengthens the Business Case - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20241230952002/en/Precision-Medicine-Software-Research-Analysis-Report-2024-2030-Increasing-Adoption-of-Genomic-Data-Analysis-Software-Spurs-Growth-Integration-of-Multi-Omics-Data-Strengthens-the-Business-Case---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-Q-tiwWZwkcswR1UZtV7eGe24xL9TZOyQUMS3J72mJlQ7fxFuNFTHSunhvli30RlBNXya2izy9YOgHlBiZQk2LOzmn6JePCpHPCiYGaEx4DL1Rq8pNwkf3AarimpDzQGuQ==) | [[Business Wire]] | | 12/17/2024 | [**Press Registration Is Now Open for the 2025 ACMG Annual Clinical Genetics Meeting**](https://www.prnewswire.com/news-releases/press-registration-is-now-open-for-the-2025-acmg-annual-clinical-genetics-meeting-302332901.html) | [[PR Newswire]] | | 12/11/2024 | [**Anasens: Appointment of Pierre Fitzgibbon to the Board of Directors - Business Wire**](https://www.businesswire.com/news/home/20241211465784/en/Anasens-Appointment-of-Pierre-Fitzgibbon-to-the-Board-of-Directors) | [[Business Wire]] | | 12/11/2024 | [**Anasens: Appointment of Pierre Fitzgibbon to the Board of Directors**](https://www.businesswire.com/news/home/20241211465784/en/Anasens-Appointment-of-Pierre-Fitzgibbon-to-the-Board-of-Directors/) | [[Business Wire]] | | 11/25/2024 | [**Natera Co-Founder and Executive Chairman Matthew Rabinowitz Named 2024 R&D Leader of the Year**](http://www.businesswire.com/news/home/20241122663713/en/Natera-Co-Founder-and-Executive-Chairman-Matthew-Rabinowitz-Named-2024-RD-Leader-of-the-Year/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 11/22/2024 | [**Global Biotechnology Reagents & Kits Market Size to Reach USD 1441.03 Billion by 2032 ...**](https://finance.yahoo.com/news/global-biotechnology-reagents-kits-market-140000583.html) | [[Yahoo Finance]] | | 11/22/2024 | [**Barcelona launches world's first joint program on evolutionary medical genomics**](https://www.news-medical.net/news/20241122/Barcelona-launches-worlde28099s-first-joint-program-on-evolutionary-medical-genomics.aspx) | [[News Medical Net]] | | 11/18/2024 | [**Lilly unveils SGD$42M digital health innovation hub in Singapore - MobiHealthNews**](https://www.mobihealthnews.com/news/lilly-unveils-sgd42m-digital-health-innovation-hub-singapore) | [[MobiHealthNews]] | | 11/15/2024 | [**DNA Synthesis Market to Reach USD 15.48 Billion by 2032 Driven by Demand for Genomics Research and Personalized Medicine**](https://finance.yahoo.com/news/dna-synthesis-market-reach-usd-140000784.html) | [[Yahoo Finance]] | | 11/14/2024 | [**Lilly expands R&D footprint in Singapore with SGD$42 million investment in new Digital ...**](https://www.prnewswire.com/apac/news-releases/lilly-expands-rd-footprint-in-singapore-with-sgd42-million-investment-in-new-digital-health-innovation-hub-302305292.html) | [[PR Newswire]] | | 11/13/2024 | [**Lilly expands Rnt in Singapore with SGD$42 million investment in new Digital Health Innovation Hub**](https://finance.yahoo.com/news/lilly-expands-r-d-footprint-071000813.html) | [[Yahoo Finance]] | | 11/11/2024 | [**Population Health Management Market to Grow by USD 22.55 Billion from 2024-2028 ...**](https://www.prnewswire.com/news-releases/population-health-management-market-to-grow-by-usd-22-55-billion-from-2024-2028--driven-by-rising-adoption-of-healthcare-it-report-with-ai-impact-on-trends---technavio-302300769.html) | [[PR Newswire]] | | 11/6/2024 | [**Insulin Delivery Innovator PharmaSens Appoints Robert Gabbay, MD and James Peterson ...**](https://www.prnewswire.com/news-releases/insulin-delivery-innovator-pharmasens-appoints-robert-gabbay-md-and-james-peterson-to-board-of-directors-302296887.html) | [[PR Newswire]] | | 11/5/2024 | [**Clinical Potential of Multimodal Therapeutics - STAT News**](https://www.statnews.com/event/multimodal-therapeutics/) | [[STAT]] | | 10/29/2024 | [**Precision Medicine Global Thought Leader, Dr. Howard McLeod, Joins Cofactor Genomics ...**](https://www.businesswire.com/news/home/20241029349293/en/Precision-Medicine-Global-Thought-Leader-Dr.-Howard-McLeod-Joins-Cofactor-Genomics%E2%80%99-Advisory-Board-as-Cofactor-Brings-OncoPrism-test-to-Partnered-Hospitals) | [[Business Wire]] | | 10/29/2024 | [**Precision Medicine Global Thought Leader, Dr. Howard McLeod, Joins Cofactor Genomics' Advisory Board as Cofactor Brings OncoPrism test to Partnered Hospitals**](http://www.businesswire.com/news/home/20241029349293/en/Precision-Medicine-Global-Thought-Leader-Dr.-Howard-McLeod-Joins-Cofactor-Genomics%E2%80%99-Advisory-Board-as-Cofactor-Brings-OncoPrism-test-to-Partnered-Hospitals/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 10/17/2024 | [**CDRH's Michelle Tarver lays out vision for leadership and bringing healthcare into the home**](https://www.fiercebiotech.com/medtech/cdrhs-michelle-tarver-lays-out-vision-leadership-and-bringing-healthcare-home) | [[FierceBiotech]] | | 10/9/2024 | [**Worldwide Clinical Trials Appoints Kellie MacLeod as Executive Vice President, Global Quality Assurance**](http://www.businesswire.com/news/home/20241009912216/en/Worldwide-Clinical-Trials-Appoints-Kellie-MacLeod-as-Executive-Vice-President-Global-Quality-Assurance/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer - Morningstar**](https://www.morningstar.com/news/business-wire/20240912017707/archimedic-appoints-m-alexander-shaw-phd-as-chief-executive-officer) | [[Morningstar]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer**](http://www.businesswire.com/news/home/20240912017707/en/Archimedic-Appoints-M.-Alexander-Shaw-PhD-as-Chief-Executive-Officer/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 9/12/2024 | [**Archimedic Appoints M. Alexander Shaw, PhD as Chief Executive Officer - Yahoo Finance**](https://finance.yahoo.com/news/archimedic-appoints-m-alexander-shaw-140500305.html) | [[Yahoo Finance]] | | 9/10/2024 | [**LH Stock Expected to Gain From the Ballad Health Acquisition Deal**](https://finance.yahoo.com/news/lh-stock-expected-gain-ballad-122400434.html) | [[Yahoo Finance]] | | 8/5/2024 | [**Labcorp Finalizes Acquisition of Select Assets of Invitae**](https://www.prnewswire.com/news-releases/labcorp-finalizes-acquisition-of-select-assets-of-invitae-302214260.html) | [[PR Newswire]] | | 6/28/2024 | [**Genoks and Velsera Forge Strategic Partnership to Revolutionize Cancer Diagnostics in Turkey**](https://finance.yahoo.com/news/genoks-velsera-forge-strategic-partnership-050400903.html) | [[Yahoo Finance]] | | 6/6/2024 | [**Ethnic Health Inequalities in Genomic Medicine Need Addressing**](https://www.insideprecisionmedicine.com/topics/precision-medicine/ethnic-health-inequalities-in-genomic-medicine-need-addressing/) | [[Inside Precision Medicine]] | ## Specialty Overview (Some LLM-derived content — please confirm with above primary sources) ### Key Players - **MedGenome**: A genomics-driven diagnostics company in India, pioneering the integration of genomics into clinical practice and offering extensive genetic testing. - **Myriad Genetics**: A biotechnology company specializing in genetic testing and personalized medicine, particularly in hereditary cancer testing. - **Solid Biosciences**: A biotech firm focused on advancing gene therapy platforms for genetic cardiomyopathies and channelopathies. - **MGI Tech**: A company specializing in next-generation genomic sequencing technologies aimed at enhancing scientific research and personalized medicine. - **Genomenon**: A company that curates evidence for ACMG secondary findings genes within its Mastermind software platform, enhancing the interpretation of medically valuable genetic variants. - **ClinGen**: A global consortium funded by the NIH, focusing on curating genomic data relevant to genetic diseases and standardizing genomic information for medical practice. - **Beam Therapeutics**: A biotechnology company specializing in base editing technologies for genetic medicine, particularly for sickle cell disease. - **GeneDx**: A genetic testing company that provides data visualization tools for biopharmaceutical companies. - **Galatea Bio**: Focused on advancing precision medicine for underserved populations through genetic tools and data. - **ElevateBio**: A company dedicated to creating transformative genetic medicines through advanced R&D technology platforms. - **Beckman Coulter Life Sciences**: A company that provides laboratory automation and genomic analysis solutions. - **University Hospital of Münster**: A leading medical institution in Germany collaborating with PacBio to advance genomic medicine, focusing on complex genetic issues related to male infertility. - **Labcorp**: A global leader in laboratory services, enhancing genetic testing solutions for oncology and rare diseases through acquisitions and partnerships. - **Ois√n Biotechnologies**: A company targeting age-related diseases through a novel genetic medicine platform. - **DNAnexus**: A cloud-based platform for genomic data analysis and precision medicine. - **Helix**: A company focused on integrating genomics into patient care and drug discovery through large-scale genetic testing. - **Children's National Hospital**: A pediatric healthcare institution fostering research and innovation in genetic medicine. - **SalioGen Therapeutics**: A biotechnology company focused on developing genetic medicines, particularly for inherited retinal diseases and cystic fibrosis. ### Partnerships and Collaborations - **GeneDx and biopharmaceutical companies**: Collaboration to enhance drug development processes through access to genetic data. - **Solid Biosciences and Mayo Clinic**: A partnership to advance an AAV-based gene therapy platform for treating genetic heart diseases. - **ClinGen Consortium**: Includes over 2,500 experts from 69 countries, focusing on identifying disease-associated genes and variants for medical application. - **MedGenome and Twist Bioscience**: Through the HOPE for Rare Diseases Program, they provide discounted whole exome sequencing to economically disadvantaged patients. - **DNAnexus and Galatea Bio**: Collaboration to improve access to genetic tools for underserved populations in Latin America. - **Myriad Genetics and Flatiron Health**: Integration of MyRisk testing into Flatiron's OncoEMR platform to streamline genetic testing workflows. - **Labcorp and Invitae**: This partnership aims to leverage genetic insights to enhance patient care, diagnosis, and treatment options. - **Children's National Hospital and Virginia Tech**: Collaboration to develop precision medicine based on pediatric genomic research. - **MGI Tech and Universidad de San Martín de Porres**: A collaboration to implement advanced genomic sequencing in Peru, facilitating large-scale studies of human genomes. - **Eli Lilly and Genetic Leap**: Partnership to develop genetic medicine therapeutics using RNA-targeted AI technology. - **PacBio and University Hospital of Münster**: Collaboration to utilize the Revio HiFi sequencing system for research in male infertility and rare diseases, marking a significant step in Germany's genomic medicine integration efforts. - **Helix and health systems**: Partnering to sequence large patient populations for early intervention and drug discovery. - **Geneial and RENCI**: A pilot project to develop AI tools for transforming biomedical data into analysis-ready formats. - **Genoks and Velsera**: Collaborating to improve cancer diagnostics and treatment in Turkey through advanced genomic analysis technologies. - **Labcorp and Ballad Health**: Strategic collaboration to enhance outreach laboratory services in the Appalachian Highlands, improving patient care and access to advanced testing. - **Yale School of Medicine and NIH**: Yale received a grant to establish the Yale Diagnostic Center of Excellence, aimed at improving genetic testing for underserved patients with unexplained symptoms. - **ERS Genomics and Université de Montréal**: A non-exclusive license agreement allowing the university to access ERS's CRISPR/Cas9 patent portfolio. ### Innovations, Trends, and Initiatives - **Genomenon's Mastermind software**: Enhancements to interpret ACMG secondary findings, bridging the gap between genetic testing and actionable patient care. - **Integration of Genome Sequencing in Newborn Screening**: Efforts to enhance early diagnosis of genetic disorders through advanced sequencing technologies. - **EvoMG Program**: The world's first Joint Program on Evolutionary Medical Genomics launched in Barcelona, focusing on using evolutionary principles to understand disease mechanisms. - **AI in Genomic Medicine**: Integration of AI technologies to analyze genomic data and improve diagnostic accuracy and treatment strategies. - **Clinical Genomics Workspace**: A platform by Velsera designed to support oncology and inherited disease specialists in genomic testing. - **GeneDx Discover**: A new data visualization tool that provides biopharmaceutical companies with access to deidentified genetic data. - **Epigenetic Editing Technologies**: Advancements in gene editing that aim to provide functional cures for chronic diseases. - **Next-Generation Sequencing**: Technologies that enhance the identification of genetic variations for disease prevention and personalized treatments. - **RNA Editing Technologies**: Emerging trend in genetic medicine, with companies like Wave Life Sciences and Novo Nordisk focusing on RNA-based therapies. - **SalioGen's Gene Coding Technology**: Innovative technology allowing precise integration of large genes into the genome without double-strand breaks. - **Clinical Genome Resource (ClinGen)**: Aims to standardize genomic information assessment for medical practice and research, providing an open-access platform for genomic interpretation. - **EpiSign Technology**: Developed by researchers at London Health Sciences Centre, this technology uses epigenomic data to diagnose over 100 genetic diseases. - **GenomeDE Modellvorhaben**: A project in Germany aiming to incorporate genomic medicine into standard patient care, supported by the Revio system for whole genome sequencing. - **Mayo Clinic's Cloud-Based Platform**: Development of a platform to integrate personalized medical data into electronic health records, enhancing access to genomic data. - **VarSome Clinical Platform**: Received CE mark approval for automating NGS data interpretation, reflecting advancements in clinical genomics. - **Gene Therapy Platforms**: Innovations in AAV-based gene therapies aimed at treating genetic conditions, with a focus on cardiac diseases. - **STRIPE Initiative**: Aims to standardize pharmacogenomic practices and enhance clinical decision-making in genetics. - **Proteome-Wide Association Study Hub (PWAS Hub)**: A tool utilizing machine learning to explore gene-disease connections, enhancing personalized medicine. - **Plant-Based Viral Vector Manufacturing**: Innovative approaches to improve the safety and accessibility of gene therapies. ### Challenges and Concerns - **Access to Genetic Testing**: Challenges in ensuring equitable access to genetic testing and precision medicine, particularly in underserved populations. - **Fraud in Genetic Testing**: Concerns regarding fraudulent schemes in genetic testing and the need for robust detection mechanisms. - **Access to Precision Medicine**: Challenges in ensuring equitable access to genetic testing and precision medicine tools across diverse populations. - **Integration of Genomic Data**: The challenge of effectively integrating genetic data into clinical practice remains a significant hurdle for healthcare providers. - **Data Standardization in Precision Medicine**: Challenges in standardizing biomedical data for effective precision medicine applications. - **Data Privacy**: Concerns regarding the handling and privacy of genetic data in collaborations and partnerships. - **Ethnic Diversity in Genetic Research**: Underrepresentation of ethnic minorities in genetic medicine research may lead to healthcare disparities. - **Cost and Accessibility**: Issues related to the affordability and availability of advanced genomic technologies and therapies. - **Regulatory Compliance**: The need for genetic testing platforms to comply with stringent regulations like the EU's IVDR to ensure safety and effectiveness. - **Public Skepticism**: Concerns regarding the acceptance of genetically modified organisms and gene editing technologies. - **Complexity of Genetic Issues**: The Y chromosome's repetitive regions and structural variants pose challenges in understanding male infertility, highlighting the need for advanced sequencing technologies. - **Diversity in Genetic Databases**: The need for diverse genetic data to improve the understanding and treatment of rare diseases, as highlighted by Invitae's efforts to enhance its rare disease database. - **High Production Costs of mAbs**: Despite their efficacy, the high costs hinder commercialization, although the development of biosimilars is making these therapies more affordable. - **Precision in Gene Editing**: While CRISPR technology holds promise, it requires precision to avoid unintended edits that could be harmful or cancerous. - **Data Availability in Precision Medicine**: The lag in dataset availability compared to new drug introductions, particularly outside oncology. - **Regulatory Hurdles**: Challenges in obtaining approvals for new gene therapies and ensuring safety and efficacy. - **High Failure Rate in Drug Discovery**: Despite advancements in lab automation, the failure rate in new medicine discovery remains high. - **Regulatory Concerns**: Concerns over potential conflicts of interest in FDA collaborations with tech companies in health AI initiatives. ## Related Topics [[Clinical Biochemical Genetics]]; [[Biochemical Genetics]]; [[Medical Genetics]]; [[Molecular Genetic Pathology]]; [[Laboratory Genetics]]; [[Clinical Genetics]]; [[Clinical Genomics]]