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Home»Research»New research discusses the role of AI in improving rare disease therapy
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New research discusses the role of AI in improving rare disease therapy

versatileaiBy versatileaiMay 23, 2025No Comments5 Mins Read
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Photo courtesy of Chaitlan Chakiram

Opinions expressed by digital journal contributors are unique.

Over 300 million people around the world suffer from rare diseases, and unfortunately timely and accurate care often remains elusive to them. Many of these individuals suffer from genetic disorders with few approved treatments. The success of treatment is also greatly affected by delayed treatment of diagnosis or inconsistent treatment. Experienced AI researcher Chaitran Chakilam proposes an AI-driven patient support framework that supports the diagnosis, management and treatment of rare genetic diseases.

Titled “Revolutionizing Gene Therapy: A Comprehensive Study on AI Neural Networks of Predictive Patient Support Systems in Rare Disease Management,” Chakilam’s recent study outlines how his AI framework is used for gene therapy to support personalized treatment, early intervention, and real-time patient surveillance.

Rare Disease Therapy: Current Condition

Treatment of rare diseases has always been constrained by health care models of all sizes that cannot accommodate conditions with highly individualized profiles. Common clinical pathways are insufficient for rare genetic disorders, as these conditions tend to occur in unpredictable ways early in life. Traditional care systems can slow the entire process, as they can only respond to visible symptoms that appear at later stages.

Chakilam argues that the future of rare disease therapy lies in accuracy and proactiveness. It is true that genetic therapy is extremely effective at targeting the root cause at a molecular level. However, its success depends on accurate diagnosis, optimized dosage, and ongoing follow-up.

“A paradigm shift is required to effectively treat rare diseases,” explains Chakiram. “Instead of tuning existing systems to fit rare diseases, we need to design intelligent systems that are essentially built to understand their complexity.”

Predictive Patient Support System

In his research, Chakilam proposes an AI-driven patient support system that can intelligently manage the entire treatment lifecycle of individuals with rare diseases. It is not a diagnostic tool, but an evolving ecosystem that can be adapted to the changing personal situation, health status, and treatment progression of a patient.

The four core elements of this system are summarized below.

• Integration of patient data: Complete images of each patient’s health are created by capturing a wide range of inputs, including genomic data. Electronic Health Records (EHRs), lifestyle, environmental variables, etc.

Predictive modeling: Using rare disease-specific neural networks and deep learning, the system accurately identifies the right patients for treatment. The simulations showed significant improvements in predicting treatment response.

– Ongoing Calibration: Real-time readjustment of treatment plans is possible. This is because the system continuously learns from compliance patterns, patient responses, and feedback from care teams.

• Coordinated care delivery: Pharmacists, clinicians and psychologists can provide integrated support using AI-generated insights. This mixed care model not only allows patients to receive appropriate treatment, but also receive behavior, emotions, and medical guidance.

Real-world impact

One of the most serious bottlenecks in the development of gene therapy is recruiting for clinical trials. If eligibility depends on a rare physiological profile or specific genetic variation, the trials often fail to reach the registration goal on time.

Chakilam’s model streamlines the patient identification process to address this issue. By leveraging predictive analytics, you can identify the subset of individuals most likely to benefit from treatment. This helps to compress the timeline, reduce trial wear and increase the chances of successful outcomes for patients.

If a patient’s condition shows early signs of deterioration, doctors and caregivers receive AI-generated alerts. This allows timely and at-home interventions that can reduce hospitalizations, reduce treatment costs and improve the quality of life of patients.

“Gene therapy is a high-stakes treatment,” Chakilam points out. “With a predictive support system, we can ensure that these powerful treatments are predicted to be accurately appropriate.”

Filling the access gap

Lack of resources or rural patients often lack the means to participate in facilities, professionals, or intensive care models. Logistics barriers such as awareness, distance and financial constraints may also exist.

Chakilam’s AI model leverages remote monitoring tools and virtual care infrastructure to democratize access. The system is designed to work not only in tertiary care centers, but also in community health hubs, primary care clinics and patient homes. By diversifying patient management, it helps to extend the scope of professional support to the final miles.

“Costs aren’t the only way healthcare equity is,” says Chakilam. “It’s about building a system that adapts to the patient world, not the other way around.”

Conclusion

By combining AI, deep medical data integration, and interdisciplinary collaboration, Chaitran Chakilam’s proposed system aims to improve patient support for people navigating the uncertain topography of rare diseases.

“Our goal is not only to improve treatment outcomes, but to redefine what patient support looks like in the age of precision medicine,” concludes Chakilam. “By predicting needs before the emergence of a crisis, we can build a proactive, comprehensive, and deep human healthcare model, a future that owes to all rare disease patients.

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