MendelScan:利用算法及遗传确诊罕见病的技术（美国）

20250327

医药健康

Mendelian’s software solution (MendelScan) supports earlier diagnosis of rare diseases – the first tool that addresses rare diseases as a whole and integrates diagnosis into a healthcare system. Using MendelScan, plus a team of international rare disease experts, they support doctors to refer patients to the right specialist, enabling faster diagnosis and treatment.-In an example, using MendelScan to help diagnose Behcet’s disease – Mendelian saved three and a half years of patients’ diagnostic odyssey as well as saving the patient £876 incurred in the three years before diagnosis. On average patients would have otherwise faced 41 laboratory tests, seven clinical visits and four specialist referrals during this three year period.

Commercial, scalable

知识产权情况： 其它 成果权属： 其他 知识产权数量： Trade secret software 知识产权描述： Rare disease pattern detection using AI 该技术潜在应用场景及目标客户： Our direct users are clinicians and administrational users in primary care – our ultimate beneficiary, the patient, does not see the system in operation. We currently have 35 rare disease algorithms deployed and have encoded criteria for more than 100 diseases. When patients are matched to case finding criteria, clinicians receive a MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway. The clinician then has autonomy on the next stage of the care pathway – including review, referral and further testing. Our platform is used across the life-course including to aid the diagnosis and monitoring in children – over 70% of rare conditions start in childhood. 产品形态： 技术服务 产品描述： Mendelian's AI-powered diagnostic platform combines advanced artificial intelligence algorithms with genomic analysis, the platform revolutionizes the diagnosis of rare genetic diseases. Its creativity is evident in the platform's ability to unravel the complexities of the human genome, transforming vast genetic data into actionable insights.

The platform's machine learning algorithms exhibit dynamic learning capabilities, continuously refining diagnostic accuracy with each interaction. This adaptability ensures that Mendelian stays at the forefront of genetic research, incorporating new discoveries and disease patterns into its analyses. A standout feature is the platform's adeptness in genetic variant interpretation, pinpointing rare and pathogenic variants that often elude traditional methods.

Mendelian's AI product offers tailored clinical decision support, providing clinicians with evidence-based recommendations and personalized treatment options based on each patient's genetic profile. This creative approach empowers clinicians with a comprehensive toolkit for navigating the complexities of rare disease management, ultimately leading to optimal patient outcomes.

Seamlessly integrating into existing healthcare systems, Mendelian's platform boasts a user-friendly interface designed for accessibility across various levels of expertise. This ensures that clinicians can harness the power of AI-driven diagnostics without hindrances, fostering a smooth and intuitive user experience.

Moreover, the platform goes beyond clinical utility, empowering patients with knowledge about their genetic conditions. By delivering clear and accurate diagnoses based on genetic profiles, Mendelian enables patients and families to make informed decisions about their healthcare journey. This patient-centric approach fosters empowerment, placing patients as active participants in their treatment plans.

合作方式描述： Statergic partnerships, coperation and models for the China health system 融资情况及需求： Raising in 12 -18 months

Mendelian's technology has emerged from a deep commitment to addressing the challenges faced by patients and clinicians in this field. The foundation of Mendelian's technology R&D lies in the convergence of cutting-edge artificial intelligence and genomic analysis. Developed by a team of experts in genetics, bioinformatics, and AI, the platform harnesses the power of machine learning algorithms to analyze vast amounts of patient data, genetic variants, and clinical information. This AI-driven approach enables rapid and accurate diagnoses of rare and undiagnosed genetic conditions, where traditional diagnostic methods often fall short. Mendelian's AI-powered diagnostic platform finds application in a diverse range of healthcare segments, particularly focusing on rare genetic diseases. The platform is designed to assist clinicians in diagnosing conditions that are often challenging to identify using conventional methods. This includes diseases with complex genetic etiologies, elusive symptoms, and limited diagnostic markers.

The core technology form of Mendelian is its AI diagnostic platform, which operates as a comprehensive solution for genetic variant interpretation, clinical decision support, and personalized treatment planning. The platform is designed to be seamlessly integrated into existing healthcare systems, offering a user-friendly interface for clinicians. Mendelian's technology spans across various medical fields, with a primary focus on rare genetic diseases.

At the heart of Mendelian's technology lies the aim to solve critical challenges in rare disease diagnosis and management. Mendelian's platform aims to streamline the diagnostic process, improve diagnostic accuracy, and empower clinicians with actionable insights. Benefits include: · Rapid Diagnoses: The platform significantly reduces the time taken to diagnose rare genetic diseases, providing answers in days rather than years. · Personalized Treatment: Clinicians receive tailored treatment options based on the patient's genetic profile, optimizing therapeutic outcomes. · Increased Diagnostic Yield: Mendelian's AI algorithms have demonstrated a high diagnostic yield, uncovering elusive conditions that may have been missed. · Efficient Clinical Workflow: The platform streamlines the diagnostic process, leading to more efficient utilization of resources and reduced healthcare costs. · Empowering Patients: By providing patients with clear diagnoses and understanding of their conditions, Mendelian empowers informed decision-making and proactive healthcare management.。