Rare Disease Research Incentives for Doctors

Creating Incentives For Researcher And Doctors To Focus On Rare Diseases

Advancements in medical technology regularly help to improve all aspects of the industry, but have you ever wondered what factors determine which direction research takes to make these discoveries?

Regarding medication, there are two leading players: doctors and scientists, followed by pharmaceutical companies. Of course, these two parties have very different objectives. Still, at a certain point, they must work in tandem to develop effective treatments, and this is where incentives for doctors and scientists can really help drive the discovery of treatments for rare diseases that might have otherwise gone uninvestigated by manufacturers looking for an easy-to-market treatment.

Creating Incentives For Researcher And Doctors To Focus On Rare Diseases

Although most pharmaceutical companies were likely founded with the vision of helping those in need, the main driver behind the operation of these large, multimillion-dollar corporations is largely financial. Whilst this is of course partly true for the doctors themselves, their chosen profession was almost certainly motivated more so by empathy and compassion, than money.

Similar Objectives Different Motives

With companies being driven by money and doctors more so by emotion, it would make sense that the treatments promising more significant financial gain are the ones that get made. However, since doctors and scientists are the ones who receive first-hand experience with patients and typically have access to the resources needed to investigate further and study these cases, listening to their opinions, ideas, and findings can be extremely valuable.

Numerous recent cases have shown the effectiveness of hearing doctors’ concerns, funding scientists’ findings, and supporting their continued work. In these instances, effective treatments have eventually been made available to the public, and in some cases, for rare diseases and conditions that would have not otherwise received this necessary support. This shows that, despite the lower demand, treatments for more obscure diseases can still make it to the manufacturing stage if all the research has been proven successful.

For this reason, it’s important to have incentives for doctors and scientists, those on the front line, to encourage research into all manner of diseases, as the benefits are often more than they first appear.

Incentives for Scientists to Study Rare Diseases

Until recently there had only been one world-renowned incentive for scientists, especially for those who wish to see their name and research become part of history; that being the Nobel Peace Price. Aside from college and university grants, as well as privately funded projects there has been little else in the way of financial encouragement for scientists.

Now, with the goal of spurring on the development of new medications, drugs and treatments for obscure, an organization founded by the millennial world’s most famous billionaires has just awarded the Oscars of Science to research that presents a breakthrough in cystic fibrosis treatment.

Nobel Peace Prize for Rare Diseases

Nobel Peace Prize Winners

Katalin Kariko and Drew Weissman won a Nobel Prize in medicine for their contributions to the messenger RNA vaccines which they hope will also be applied to cancer and rare disease treatments.
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Breakthrough Prizes Award Incentives

The new ‘Breakthrough Prizes’ project may not be as prestigious as the world-renowned science award, however it does have lofty goals that comes with three times more prize money than the Nobel Prize. This year, in the Life Sciences category, the 2024 prizes saw “groundbreaking research set to change the lives of those suffering from three debilitating diseases: Parkinson’s disease, cystic fibrosis, and cancer.” [TheHindu.com]

As the Ministry of Health and Family Welfare states, “There are about 7,000 known rare diseases, affecting around 8% of the world’s population” and “75% of rare disease patients [are] children,” 

These low numbers deter drug manufacturers and pharmaceutical companies from investing money into them, which means these rare conditions ultimately stay rare, poorly understood and of course, untreatable. Despite these discouraging circumstances, there are still scientists willing to go against the grain and fight the uphill battle to purse research into these rare diseases.

Ellen Sidransky, a clinical geneticist at the U.S. National Institutes of Science, is not only one of these determined scientists she’s also one who’s experienced the mutual benefits offered by organization such as the Breakthrough Prizes. Sidransky, has been studying Gaucher disease, an inherited metabolic disorder affecting 1 in 57,000 globally, when her research uncovered a mutation in a gene, called sGBA1, which seems to indicate if a person will develop Parkinson’s.

Parkinson’s affects approx. 8.5 million people worldwide and while not officially classified as a rare disease, this discovery was passed onto Breakthrough Prize in India, who subsequently awarded Dr. Sidransky for her efforts. Being a high profile condition means there is more research and financial support, despite the continued attempts to better understand the disease, finding a cure for Parkinson’s remains elusive.

The Benefits of Unrelated Discoveries

The recent honoring by Breakthrough Prizes provides a fine example of how the organization’s concept could reach further than the realm of rare diseases, to potentially help support research into better-known conditions that still remain a mystery to science. Identifying genes that carry risk of developing disease/s has become a valuable tool in the quest to understand and treat conditions, both rare and common. And with the recent advancement in CRISPR technology, these findings have never been more significant.

Krishna Deepak, a computational biologist at Azim Premji University, Bengaluru, noted how our current procedure to screen for breast cancer early on was born out of the discovery of mutated BRCA1 and BRCA2 (BRCA1/2) genes. Once it was understood that mutations in the BRCA1 and BRCA2 genes could cause cancer to grow, doctors suddenly had a way to identify, with relative accuracy, which patients would go on to develop breast cancer. This led to the implementation of genetic tests being administered to high-risk patients many years before any cancer is present, and since early treatment of cancer dramatically improves chance of remission, this move directly improved the survival rate of patients.

The breakthrough in combatting breast cancer is a story well known through the medical community; the same is slowly coming to fruition for the 2024 Breakthrough Prize winner. Sidransky uses her own example to try raise awareness regarding this support for research into rare diseases; an avenue of study that is often hindered by low financial gains. Sidransky hopes that projects like the one that help her will also help others overcome the final hurdles that often hold up funding, and delay the development of treatments.

Creating Incentives For Researcher And Doctors

No Better Time Than Now

Fortunately, with the current state of medical science, it seems that there’s no better time than now.

For example, identifying genes is only half the struggle; once these genes have been discovered there’s still the arduous process of creating effective and safe treatments, which must then be put through rigorous clinical trials to further confirm viability and safety. But as mentioned, advancements in CRISPR technology now enable scientists to manipulate and edit genes like never before; opening the door to a world of new possibilities for the treatment of rare diseases and those that are notoriously difficult to treat.

In addition, Breakthrough Prizes are not the only who’ve noticed the importance of providing funding for those researching more obscure, rare diseases.

The European Expert Group for Orphan Drug Incentives (OD Expert Group) has devised a new policy framework within its European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals, that aims to provide similar incentives to ‘ deliver treatments where there are none and to authorize innovative and transformative treatments where treatments already exist.’

OD Expert Group's New Incentives For Rare Disease Research

The new framework, published on the ‘Frontiers in Pharmacology’ website, consists of 14 revised policies that address 4 key points:

The OD Expert Group noted that bringing treatments to market for rare diseases is extremely complex; being made up of many different stages. Not all of these stages work together, and in fact, in some cases completely work against each other. The new policy aims to address such roadblocks, whilst also providing financial incentives. The 14 policy revisions include:

Form an EU Rare Disease Hub for Large-Scale Collaboration, Sharing and Generation of Data, and Diagnosis

Provide Guidance and Incentives for the Translation of Basic Research

Form a Rare Disease PPP Fund for Basic Research and Early Development

Establish a Coherent Policy Framework for the Use of RWE

Modulate Market Exclusivity Based on Agreed Criteria

Introduce Novel Financial Incentives, Such as a Transferable Voucher or Tax Credits for Drug Development

Strengthen EMA’s Role in Advising OMP Developers Through the OMP Pathway

Increase the Legal Certainty Around the Concept of Significant Benefit

Adopt Guidelines on the Use of Alternative Treatments (e.g., Off-Label and Pharmacy Compounding Preparations) in the Presence of Approved OMPs

Adapt the Regulatory Pathway to the Specificities of OMP Groups With Additional Challenges

Establish an Iterative Early Dialogue for EMA-HTA Bodies and OMP Developers

Create a Common EU Value Assessment for OMPs

Pilot a Common EU Access Pathway for “Priority” (e.g., Extremely Rare) OMPs

Facilitate Homogeneous Access to OMPs Across EU Member States

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