Addressing the causes and treatment of rare diseases

It’s estimated that 300 million people worldwide are affected by a rare disease, and around 80% of these have a genetic component. A rare disease is a condition that affects fewer than 1 in 2,000 people within the general population. There are over 10,000 identified rare diseases, and this number continues to increase as researchers and medical practitioners characterize new conditions.

Despite the high prevalence of people living with a rare disease, there are high levels of unmet medical needs. Currently, less than 5% of rare diseases have an approved treatment. As a result, many people living with rare diseases die prematurely or live with debilitating symptoms.

In the past decade, we’ve seen strong advances in cell and gene therapies, as well as more sophisticated diagnostics tools (for example, utilizing genomics data or AI tools) being deployed to identify and treat people with rare diseases. Emerging approaches include harnessing the Nobel prize-winning gene-editing tool CRISPR; just last month, the first CRISPR therapy for a rare disease was submitted for approval.

However, finding effective and safe treatments for all 10,000+ rare diseases presents a monumental global challenge. Due to the very nature of rare diseases, patient populations are low and many diseases are orphan diseases, further complicating R&D efforts. Examples of orphan diseases include numerous childhood cancers, as well as more well-known conditions such as cystic fibrosis, amyotrophic lateral sclerosis (ALS), and sickle cell disease.

Why are we running a Global Challenge campaign on rare diseases?

Emerging in 2020 as a response to the Covid-19 pandemic, our Global Challenge program works to leverage our two matchmaking platforms, Connect and Connect Campaigns, to accelerate technical solutions to society’s greatest health and environmental challenges.

We know from speaking with teams across our global pharma and biotech networks that there is still a clear unmet need and demand from industry for treatments for rare disease. There are still numerous technical R&D challenges towards making next-generation diagnostic tools available to practitioners and effective therapies accessible to patients who need them.

The cell and gene therapy fields are rapidly expanding and are at the cutting edge of medicine. By introducing new genetic material into cells or implanting cells themselves, these therapies have the potential to rewrite the body’s response to disease. For rare disease patients, advancements in gene therapy are particularly promising, with 80% of rare diseases having a known monogenic (single-gene) cause. Gene therapy has the potential to modify and correct gene defects underlying many of these rare diseases, giving hope for a cure rather than simply managing symptoms.

Innovations from academia are being uncovered that seek to address the R&D challenges and pain points of the biopharma industry, accelerating the development of new rare disease treatments and diagnostic tools. On our free matchmaking platform Connect, there are about 320 live assets and technologies from academic researchers currently seeking industry partners.

Navigating this landscape, the next campaign in our Global Challenge program will aim to accelerate the development of new interventions to treat and detect rare diseases by surfacing the next generation of academic research and delivering these to companies working on aligned solutions.

What are the key challenges for the research ecosystem to address rare diseases?

While the pipeline of therapeutic treatments for rare genetic diseases continues to progress in many regions of the world, the crucial step of diagnosing patients remains a significant hurdle. Patients often struggle to get accurate and timely diagnoses, taking over 4 years on average. The genetic causes of rare diseases can often remain elusive to researchers, but recent advances in genomic sequencing, and the use of AI-driven tools to screen large sets of genetic data for potential rare disease indicators provide a more promising outlook. The use of AI/machine learning technology can aid experts to make faster, more accurate novel diagnoses, crucially enabling faster routes to treatment for patients.

In terms of available therapies, there have been exciting developments in the fields of cell and gene therapies. However, the transformative potential of these therapies often comes with a price tag to match, due to restrictively high research, manufacturing, and transportation costs. There have been multiple instances of gene therapies in particular being withdrawn due to commercial failures. In addition, as to be expected with emerging fields, expertise in both academia and industry remains limited.

Following our research and conversations with industry experts, we’ve defined the scope of this challenge to focus on rare diseases that are of genetic causes. Infectious and neglected tropical diseases are out of scope for this campaign, but will likely be addressed in a future Global Challenge.

R&D leaders in industry are looking for novel innovation from academia to help address some of these R&D challenges. As part of this Global Challenge we are working with industry partners who are active leaders in this spaces - Sanofi, Mitsubishi Pharma, Ultragenyx, and General Inception.

How are we going to work to help address the challenge?

Our Global Challenge program aims to mobilize the academia-industry ecosystem to start conversations and partnerships that ultimately address an unmet need in global health or sustainability. We do this by running a mission-oriented challenge campaign. Each campaign is modeled on our Connect Campaigns platform to surface new research and assets from across academia, and by leveraging our online matchmaking platform, Connect, to initiate the conversations and partnerships.

By uncovering the latest therapeutic and diagnostic breakthroughs targeting rare diseases from academic institutes and delivering them to external innovation and R&D teams with aligned interests across our global network of 6,000+ companies, this campaign will aim to start new partnerships that lead to the development of new innovative therapies and diagnostic tools to be rolled out to patients across the globe.

Written by Anabel Bennett. Edited by Alex Stockham and Joseph Ferner.

Copyrights reserved unless otherwise agreed – Inpart, 2023: ‘Addressing the next Global Challenge: Seeking research and assets addressing the causes and treatment of rare diseases’