Innovations paving the way for drug discovery of rare diseases

Sanjay Vyas, Executive VP and MD, Parexel examines the challenges associated with rare diseases in India, and emphasises on the need for innovative technologies such as precision medicine, CRISPR, and AI to improve diagnosis and treatment to address the complexities of rare diseases and ensure timely and effective care

Orphan diseases, also known as rare diseases, are a variety of conditions that affect a small percentage of the population. By definition, rare diseases are those diseases with a prevalence rate of one case in a population of 5000 people. Rare diseases are of two types: primary and secondary. Primary rare diseases are caused due to genetic or congenital defects. On the other hand, secondary rare diseases are caused due to exposure to a toxic substance.

Even though these diseases are rare in nature, they significantly affect the lives of patients and their families, impacting their physical, mental, and social well-being. In India, challenges related to rare diseases include a lack of awareness, social stigmas linked to these conditions, and high treatment costs.

Challenges associated with rare diseases

A significant challenge faced by patients with rare diseases is getting timely and accurate diagnoses as well as the right care or treatment. Due to the scarcity of such rare medical cases and associated treatments, medical professionals may not be familiar with the unique signs and symptoms of such diseases, which could lead to delayed or incorrect diagnoses. As a result, patients might experience prolonged suffering and unnecessary testing and treatments before receiving an accurate diagnosis and treatment.

Out of more than 10,000 rare diseases affecting millions worldwide, only about five per cent have FDA-approved treatments. This imbalance highlights the considerable challenges in creating drugs for these conditions. Three main factors make this challenging: First, there’s a limited understanding of how the diseases progress naturally. Second, there’s a lack of clearly defined and measurable markers of success in clinical trials, which are commonly addressed as clinically meaningful endpoints. Lastly, the difficulties in proving therapeutic benefits and obtaining full regulatory approval further slow progress.

Regulatory challenges make developing drugs for rare diseases more complex. Unlike drugs for common conditions, clinical trials for rare diseases are complicated for several reasons. Firstly, rare diseases often have unknown biological mechanisms, making it harder to find effective treatments compared to well-understood illnesses. The diverse nature of rare diseases requires unique protocols for each patient group, making research design more complex. Tracking outcomes across these diverse populations needs careful consideration and specialised approaches. Also, the limited number of patients makes recruiting for clinical trials challenging. This difficulty makes it tough to gather enough data for thorough analysis, leading to delays in potential progress.

The challenges mentioned highlight the need for creative approaches and technologies to bridge the gap and successfully treat rare diseases. This emphasises how new technological advances can offer advantages over traditional methods for treating individuals with rare diseases.

How technology empowers the development of treatment for rare disease

While many rare diseases have genetic causes, not all of these causes can be directly targeted by medication. However, the rise of precision medicine offers renewed hope for these patients. This approach tailors treatments to individual patients based on their unique genetic makeup, lifestyle, and other factors. Instead of simply managing symptoms, precision medicine aims to address the root causes of the disease, potentially revolutionising treatment for rare diseases.

Several cutting-edge tools are emerging to support this approach. Artificial intelligence (AI) and machine learning help in analysing vast amounts of genetic data to identify potential treatment targets. Genomic analysis and next-generation sequencing provide detailed information about a patient’s genes, aiding in diagnosis and treatment planning. Translational bioinformatics bridges the gap between basic research and clinical application, translating scientific discoveries into practical treatments.

CRISPR technology has great potential for treating rare genetic disorders by accurately editing genes. Its capability to fix underlying genetic mutations provides optimism for personalised therapies, tackling the root cause of rare diseases instead of merely managing symptoms. CRISPR introduces new possibilities for effective treatments and potential cures, revolutionising the approach to managing rare conditions worldwide.

Digital twin technology is set to revolutionise clinical research by presenting a unique method to comprehend complex biological systems and enhance patient outcomes. This technology can offer a more detailed and comprehensive understanding of patient physiology, facilitating tailored treatments and contributing to advancements in precision medicine.

Automation and robotics enable quicker and more precise testing, enhancing quality control and expediting drug development. Big data analytics, through the analysis of extensive datasets, help identify biomarkers linked to specific rare diseases, allowing for earlier diagnosis and improved treatment options. Additionally, artificial intelligence holds promise in identifying personalised treatments tailored to the specific needs of individual patients.

By embracing these technologies, pharma companies can bridge the gap between scientific discoveries and their application in clinical settings. This improves the chances of patients receiving the care they need sooner rather than later.

Though, advancements offer hope for faster development of effective treatments, addressing rare diseases requires more than technology. Patients and caregivers are closely connected with the rare disease community and play a critical role in advocating for improved treatments and raising awareness. For people with rare diseases, a better future can be created by combining technology, teamwork, and an emphasis on unmet needs, ensuring they get the support and care they require.

Big data analyticsCRISPRDigital twin technologyorphan diseasesprecision medicinerare diseasesRare Diseases DayTranslational bioinformatics
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