# Rare Diseases * **Definition:** Medical conditions that affect a small percentage of the population, often requiring specialized treatment and research, with many lacking FDA-approved treatments or cures. * **Taxonomy:** Healthcare Topics / Rare Diseases ## News * Selected news on the topic of **Rare Diseases**, for healthcare technology leaders * 11.4K news items are in the system for this topic * Posts have been filtered for tech and healthcare-related keywords | Date | Title | Source | | --- | --- | --- | | 4/15/2025 | [**#RareDiseases - The EU Action Plan must step up European-national cooperation**](https://www.news-medical.net/news/20250415/RareDiseases-The-EU-Action-Plan-must-step-up-European-national-cooperation.aspx) | [[News Medical Net]] | | 4/15/2025 | [**Why Rare Diseases Still Go Undiagnosed**](https://www.news-medical.net/health/Why-Rare-Diseases-Still-Go-Undiagnosed.aspx) | [[News Medical Net]] | | 4/10/2025 | [**Odylia Therapeutics drives commitment to rare disease drug development through Rare Disease Day event**](https://www.globenewswire.com/news-release/2025/04/10/3059743/0/en/Odylia-Therapeutics-drives-commitment-to-rare-disease-drug-development-through-Rare-Disease-Day-event.html) | [[Globe Newswire]] | | 3/20/2025 | [**Government of Canada signs bilateral agreement with Nova Scotia to improve access to ...**](https://finance.yahoo.com/news/government-canada-signs-bilateral-agreement-222400627.html) | [[Yahoo Finance]] | | 2/10/2025 | [**Public health strategies skip patients with rare diseases, says UK study - Yahoo**](https://www.yahoo.com/finance/news/public-health-strategies-skip-patients-202111404.html) | [[Yahoo]] | | 2/4/2025 | [**Why are pharma, medical device and DTx companies investing in telemedicine?**](https://www.healthcareitnews.com/news/why-are-pharma-medical-device-and-dtx-companies-investing-telemedicine) | [[Healthcare IT News]] | | 2/3/2025 | [**Pioneering Progress for Rare Lives: Cell and Gene Therapy Trials in Pediatric Rare Disease Populations, Upcoming Webinar Hosted by Xtalks**](https://www.prweb.com/releases/pioneering-progress-for-rare-lives-cell-and-gene-therapy-trials-in-pediatric-rare-disease-populations-upcoming-webinar-hosted-by-xtalks-302365505.html) | [[PRWeb]] | | 2/3/2025 | [**Frontiers in Digital Health: Reshaping Healthcare - Alex G. Lee, Ph.D. Esq. CLP - LinkedIn**](https://www.linkedin.com/pulse/frontiers-digital-health-reshaping-healthcare-lee-ph-d-esq-clp-zjefe) | [[Linkedin]] | | 1/30/2025 | [**Study identifies rare diseases linked to increased COVID-19 mortality risks**](https://www.news-medical.net/news/20250130/Study-identifies-rare-diseases-linked-to-increased-COVID-19-mortality-risks.aspx) | [[News Medical Net]] | | 1/29/2025 | [**Large-scale data analysis links rare diseases to higher COVID-19 mortality risk**](https://medicalxpress.com/news/2025-01-large-scale-analysis-links-rare.html) | [[MedicalXpress]] | | 1/24/2025 | [**Orphan Drugs Strategic Research Report 2024-2030: A Beacon of Hope for Patients with Rare Diseases - Market to Reach $394.7 Billion by 2030 - ResearchAndMarkets.com**](http://www.businesswire.com/news/home/20250124756550/en/Orphan-Drugs-Strategic-Research-Report-2024-2030-A-Beacon-of-Hope-for-Patients-with-Rare-Diseases---Market-to-Reach-394.7-Billion-by-2030---ResearchAndMarkets.com/?feedref=JjAwJuNHiystnCoBq_hl-RLXHJgazfQJNuOVHefdHP-D8R-QU5o2AvY8bhI9uvWSD8DYIYv4TIC1g1u0AKcacnnViVjtb72bOP4-4nHK5ieT3WxPE8m_kWI77F87CseT) | [[Business Wire]] | | 1/13/2025 | [**Neuromuscular Disease Therapeutics Market to Grow by USD 13.73 Billion from 2025-2029, Driven by Novel Approvals and AI-Driven Market Transformation - Technavio**](https://www.prnewswire.com/news-releases/neuromuscular-disease-therapeutics-market-to-grow-by-usd-13-73-billion-from-2025-2029--driven-by-novel-approvals-and-ai-driven-market-transformation---technavio-302347934.html) | [[PR Newswire]] | | 12/20/2024 | [**Rare Disease Consulting: Explore How to Address the Low Prevalence and High ... - PR Newswire**](https://www.prnewswire.com/news-releases/rare-disease-consulting-explore-how-to-address-the-low-prevalence-and-high-outstanding-therapeutics-needs-and-stay-ahead-by-understanding-the-gaps-in-the-rare-diseases-market-with-delveinsight-302335927.html) | [[PR Newswire]] | | 12/20/2024 | [**Biopreservation Market to Accelerate at 18.2AGR, Reaching Revenues of US$24.5 ...**](https://finance.yahoo.com/news/biopreservation-market-accelerate-18-2-114300076.html) | [[Yahoo Finance]] | | 12/12/2024 | [**Tracey Sikora Joins the National Organization for Rare Disorders (NORD®) as Vice ...**](https://www.prnewswire.com/news-releases/tracey-sikora-joins-the-national-organization-for-rare-disorders-nord-as-vice-president-of-research--clinical-programs-302329617.html) | [[PR Newswire]] | | 12/9/2024 | [**Kelly Esperias Joins the National Organization for Rare Disorders (NORD) as Chief Strategy & Operations Officer**](https://www.prnewswire.com/news-releases/kelly-esperias-joins-the-national-organization-for-rare-disorders-nord-as-chief-strategy--operations-officer-302326390.html) | [[PR Newswire]] | | 12/4/2024 | [**Indo US Bridging RARE Summit Highlights Patient Stories, Affordable Innovation, and Calls for Global Collaborations**](https://www.prweb.com/releases/indo-us-bridging-rare-summit-highlights-patient-stories-affordable-innovation-and-calls-for-global-collaborations-302322221.html) | [[PRWeb]] | | 12/2/2024 | [**European leaders urged to develop action plan for rare diseases**](https://www.news-medical.net/news/20241202/European-leaders-urged-to-develop-action-plan-for-rare-diseases.aspx) | [[News Medical Net]] | | 11/5/2024 | [**Catalyzing Crucial Cross-Border Collaborations and Innovation to Address Unmet Needs in Rare Diseases**](https://www.prweb.com/releases/catalyzing-crucial-cross-border-collaborations-and-innovation-to-address-unmet-needs-in-rare-diseases-302296167.html) | [[PRWeb]] | | 10/9/2024 | [**Exploring electronic health records to study rare diseases**](https://www.thelancet.com/journals/landig/article/PIIS2589-7500(25)00008-1/fulltext) | [[The Lancet]] | | 8/26/2024 | [**Health Ministry considering setting up a Technical Expert Group on Spinal Muscular Atrophy**](https://www.msn.com/en-in/health/health-news/health-ministry-considering-setting-up-a-technical-expert-group-on-spinal-muscular-atrophy/ar-AA1pvs4p) | msn.com | | 8/9/2024 | [**HIMSSCast: DoH Abu Dhabi and AstraZeneca establish New Rare Diseases Centre of Excellence**](https://www.healthcarefinancenews.com/news/himsscast-department-health-abu-dhabi-and-astrazeneca-partner-establish-new-rare-diseases) | [[Healthcare Finance]] | | 6/28/2024 | [**Registrations Open for the 2024 Orphan Drugs and Rare Diseases Conference**](https://finance.yahoo.com/news/registrations-open-2024-orphan-drugs-142600765.html) | [[Yahoo Finance]] | | 6/24/2024 | [**Cure and The New York Academy of Sciences to Co-Host Forum on Science and Business of AI-Driven Drug Discovery**](https://www.prnewswire.com/news-releases/cure-and-the-new-york-academy-of-sciences-to-co-host-forum-on-science-and-business-of-ai-driven-drug-discovery-302180739.html) | [[PR Newswire]] | | 10/12/2022 | [**Children's Mercy Kansas City unveils genomic sequencing system to identify rare diseases**](https://www.fiercehealthcare.com/health-tech/childrens-mercy-kansas-city-research-institute-announces-its-creation-most-advanced) | [[FierceHealthcare]] | ## Topic Overview (Some LLM-derived content — please confirm with above primary sources) ### Key Players - **National Organization for Rare Disorders (NORD)**: Launched the Living Rare Study to understand the experiences of individuals living with rare diseases in the U.S. - **Global Genes**: A non-profit organization focused on rare diseases, enhancing patient data platforms and advocating for patient access to advanced therapies. - **NIH Undiagnosed Diseases Network**: A network that has successfully diagnosed over 200 rare diseases using clinical and exome sequencing databases. - **Every Cure**: A nonprofit organization focused on advancing repurposed drugs for multiple diseases, including rare diseases. - **EURORDIS**: An alliance of over 1,000 organizations representing patients with rare diseases, involved in various initiatives. - **Chiesi Global Rare Diseases**: A pharmaceutical company involved in the development of treatments for rare diseases, including the investigational regimen ELFABRIO for Fabry disease. - **Oxford-Harrington Rare Disease Centre**: A collaboration between the University of Oxford and the Harrington Discovery Institute aimed at delivering new therapies for rare diseases. - **EveryLife Foundation**: A nonprofit organization advocating for effective legislation and policies to promote access to treatments for rare diseases. - **GEn1E Lifesciences**: A clinical-stage company developing novel therapies for inflammatory and rare diseases. - **Mayo Clinic**: Utilizes AI technology to improve the diagnosis of rare diseases, significantly reducing diagnostic timelines. - **Mediaplanet**: A media company that launched a campaign on Rare Disease Day to raise awareness and support for individuals affected by rare diseases. - **DelveInsight**: A company providing specialized support to pharmaceutical and biotech companies in analyzing and forecasting data related to low-prevalence indications, particularly in the rare diseases domain. - **Rhythm Pharmaceuticals**: Specializes in therapies for rare neuroendocrine diseases, with a market capitalization of approximately $4.14 billion. - **Alesta Therapeutics**: Developing oral small molecule therapeutics for rare diseases, with plans to initiate clinical studies in 2025. - **Yale School of Medicine**: A leading institution that received a $3.35 million NIH grant to establish the Yale Diagnostic Center of Excellence for improving genetic testing and diagnosis for rare diseases. - **Odylia Therapeutics**: A nonprofit biotech company focused on innovative funding models and collaborative strategies for accelerating drug development for rare diseases. - **Labcorp**: A global leader in laboratory services, enhancing genetic testing solutions for oncology and rare diseases. - **Quince Therapeutics**: A biotechnology company utilizing patient biology to treat rare diseases, currently conducting pivotal clinical trials. ### Partnerships and Collaborations - **Oxford-Harrington Rare Disease Centre**: A collaboration focused on developing 40 new therapies for rare diseases over the next decade. - **Solve-RD Consortium**: An international collaboration diagnosing rare diseases through genetic research, resulting in over 500 patients receiving diagnoses. - **Hong Kong Genome Institute and Rare Diseases International**: Hosting the International Genomic Medicine Symposium to discuss advancements in genomic medicine for rare diseases. - **GeneDx and Biopharmaceutical Companies**: Collaborates to improve patient access to genetic testing and expedite the development of treatments for rare diseases. - **Citizen Health and Chan Zuckerberg Initiative**: Formed a partnership to enhance patient-led organizations and accelerate research in rare diseases. - **Department of Health Abu Dhabi and AstraZeneca**: A partnership aimed at addressing rare diseases prevalent in the Middle East and developing lifesaving medications. - **Yale Diagnostic Center of Excellence**: Part of the Undiagnosed Diseases Network, collaborating with various research and clinical sites across the U.S. to enhance understanding and treatment of undiagnosed diseases. - **Nova Scotia and Federal Government**: Collaboration to develop a comprehensive plan for improving screening and diagnostics for rare diseases. - **Health Ministers of Canada**: A bilateral agreement to invest over $39 million to enhance access to medications for rare diseases and improve early diagnosis. - **Chan Zuckerberg Initiative and Global Genes**: Funding to enhance the RARE-X patient data platform, integrating AI for improved data analytics. - **MGI Tech Co. and Dasa**: A strategic alliance to enhance access to next-generation genomics for Brazilian patients, focusing on rare diseases. - **MEDIPAL HOLDINGS CORPORATION and JCR Pharmaceuticals**: Collaborating on a Phase I/II clinical trial for JR-446, targeting MPS IIIB, a rare disease with no approved treatments. - **Canadian Government and Provincial Governments**: Investing over $1.5 billion to support the National Strategy for Drugs for Rare Diseases, enhancing access to treatments. - **NanoVation Therapeutics and Novo Nordisk**: Established a multi-year partnership worth up to $600 million to develop genetic medicines targeting cardiometabolic and rare diseases. - **SciSparc and Clearmind Medicine**: Collaborating to develop therapies for central nervous system disorders and rare diseases, resulting in multiple patent filings. - **Max Foundation and Novartis**: Partnership to provide access to innovative treatments for Paroxysmal Nocturnal Hemoglobinuria in low-resource countries. - **DelveInsight and Pharmaceutical Companies**: DelveInsight collaborates with pharmaceutical and biotech companies to provide insights into the rare diseases market, helping them navigate complexities and identify growth opportunities. - **Pacific Biosciences and University Hospital of Munster**: Collaboration to utilize sequencing technology for research on male infertility and rare diseases. - **Collaboration among MIT, Boston Children's Hospital, and others**: Aims to make gene and cell therapies more affordable and accessible for patients globally. ### Innovations, Trends, and Initiatives - **Living Rare Study**: A multi-year initiative by NORD to gather data on the challenges faced by patients with rare diseases. - **Rare Disease Innovation Hub**: FDA's initiative aimed at streamlining the drug development process for rare diseases, influenced by advocates and stakeholders. - **FDA's Rare Disease Innovation Hub**: A proposed initiative to streamline communication and enhance collaboration for rare disease treatments. - **European Health Data Space**: An initiative to facilitate data sharing and interoperability for better management of rare diseases. - **Personalized Medicine**: A growing trend focusing on tailored treatment strategies for rare diseases, supported by advancements in gene therapy and immunotherapy. - **European Action Plan on Rare Diseases**: A proposed comprehensive policy framework to ensure equal access to diagnosis and treatment across EU Member States. - **2024 Orphan Drugs and Rare Diseases Conference**: An event focusing on orphan drug developments, pricing, and patient access, gathering stakeholders to discuss challenges and innovations. - **Solve-RD Initiative**: Utilizing advanced techniques like long-read genome sequencing to improve diagnostic accuracy for rare diseases. - **Health Technology Assessment (HTA)**: Facing challenges in evaluating treatments for rare diseases due to limited patient populations and data scarcity. - **Diversity in Clinical Trials**: Emphasizing the importance of diverse participant representation in clinical trials to improve outcomes for rare disease patients. - **Pediatric Orphan Drug Market Growth**: Significant growth expected due to rising demand for specialized treatments for rare pediatric diseases. - **Gene therapy advancements**: Curative therapies, including gene therapy, are projected to grow significantly, with a focus on precision medicine for rare diseases. - **CRISPR-Cas9 Technology**: Recent advancements in gene editing are leading to innovative treatments for rare diseases. - **Indo US Bridging RARE Summit 2024**: A summit focused on advancements in rare disease advocacy, research, and innovation. - **Telehealth Expansion**: Telehealth is improving access to care for rare diseases, with significant investments from pharmaceutical and digital therapeutics companies. - **Cell and Gene Therapy Market Growth**: Driven by advancements in technologies such as oligonucleotides and viral transfection, transforming treatment options for rare diseases. - **FDA's Diversity Action Plan**: Aims to address the underrepresentation of minorities in clinical trials, particularly for rare diseases. - **AI in Diagnostics**: AI technology is revolutionizing the diagnosis of rare diseases, as seen in the Mayo Clinic's RENEW system, which uncovers hidden patterns. - **AI and Genomic Technologies**: Advancements in AI and genomic technologies are improving the diagnostic process for rare diseases by enabling comprehensive analysis of genetic mutations. - **Patient Engagement Solutions**: The market for patient engagement solutions is expanding, driven by technological advancements and a shift towards personalized healthcare, which is vital for managing rare diseases. ### Challenges and Concerns - **Limited Access to Care**: Patients with rare diseases often face challenges such as low awareness and limited treatment options, with only about 5% of known rare diseases having FDA-approved treatments. - **Data Scarcity**: There is a scarcity of published data on rare diseases, complicating research and development efforts in this area. - **Lack of FDA-Approved Treatments**: 95% of rare diseases lack FDA-approved treatments, highlighting a significant unmet need in the healthcare system. - **Access to Treatments**: Despite advancements, 90% of rare diseases still lack approved treatments, highlighting the need for enhanced drug development efforts. - **Lack of treatments for rare diseases**: 95% of rare diseases lack FDA-approved treatments, highlighting the urgent need for advancements in drug approvals. - **Unmet Medical Needs**: Over 95% of rare diseases lack FDA-approved treatments, highlighting significant unmet medical needs. - **Delayed Diagnosis**: Patients with rare diseases often face lengthy diagnostic processes, averaging 7.6 years, due to limited physician awareness and nonspecific symptoms. - **Lengthy Diagnostic Journey**: Patients with rare diseases often face a lengthy diagnostic journey, which can delay treatment and worsen health outcomes. - **Funding and Support for Rare Diseases**: Concerns over federal funding cuts affecting biomedical research and public health initiatives for rare diseases. - **Integration of Rare Diseases in Public Health**: The need for better integration of rare disease data into public health strategies, particularly highlighted during the COVID-19 pandemic. - **Patient Safety in Drug Development**: Ensuring long-term patient safety is critical due to the unique challenges presented by rare diseases. - **Regulatory Hurdles**: Challenges related to reimbursement policies and regulatory frameworks can impede the development and accessibility of treatments for rare diseases. - **Data Scarcity in HTA**: Limited patient populations and scarce data hinder effective health technology assessments for rare diseases. - **Underrepresentation in Clinical Trials**: Racial and ethnic minorities are significantly underrepresented in biomedical research, particularly in rare diseases, leading to delays in treatment development. - **Economic Viability of Orphan Drugs**: High development costs and low success rates hinder the availability of effective treatments for rare diseases. - **Regulatory Challenges in the EU**: New EU regulations may impede the development of treatments for rare diseases due to stricter guidelines on medical trials. - **Impact of climate change**: Climate change exacerbates challenges for individuals with rare diseases, necessitating tailored healthcare strategies.