This story was produced by Rob McManus and distributed by Next Net.

Partnerships in rare disease research dramatically improve success rates. Professionals get to share their resources and expertise, leading to better patient outcomes. It’s proof that teamwork helps drive real results in this challenging field.

Nearly 300 million people live with rare diseases globally, as per the Lancet Global Health reports. This number shows how widespread these conditions are despite being independently uncommon.

As a result, many families may face issues with diagnoses, few treatment options, and social exclusion. Urgent and collaborative research focused on rare diseases is one way to improve lives everywhere.

What Is the Rare Disease Research Partnership?

The rare disease research partnership brings together specialists to tackle the challenges in looking into rare diseases. These partnerships go beyond disciplines, organizations, and continents. Research partnerships often involve:

The patient communityAcademic researchersGovernment agenciesHealthcare providersPharmaceutical companiesPatient advocacy organizations

One example of medical innovation collaboration in Ireland is the Rare Disease Research Partnership (RAinDRoP). It’s an initiative that brings together patients, academic researchers, and health experts.

Its goal is to improve the supply of information and clinical care for rare conditions.

If we dive deeper, we get the European Rare Diseases Research Alliance (ERDERA). ERDERA involves nearly 180 partners from 37 countries. It focuses on improving prevention, diagnosis, and treatment innovations for over 30 million people affected by rare diseases in Europe.

What Is the Most Overlooked Challenge in the Rare Disease Community?

Since rare diseases are uncommon among people, they’re often overlooked. Here are challenges that patients with rare diseases often face:

Lack of Awareness About Clinical Trials

A lot of people do not know about the clinical trial opportunities for most rare diseases. If health care experts don’t know about clinical trials for rare diseases, they won’t refer eligible patients.

This often leads to a small number of patients participating in these trials.

Misdiagnosis and Delayed Diagnosis

Some rare diseases have little to no biomarkers. This makes it hard to get an accurate diagnosis. As a result, the inaccessibility of testing can lead to a misdiagnosis or a delayed diagnosis.

Patients Mistrust the Medical System

Gene therapies are new, making patients apprehensive about their use. Patients have many concerns and misconceptions about these therapies.

It doesn’t help that some health care professionals lack knowledge of these rare disease therapies. This leads to a lack of trust between rare disease patients and health care specialists.

Why Is Rare Disease Research Important?

Funding for the study of rare diseases is often limited and short-term. However, Rare Patient Voice notes that this field needs a lot of resources to improve health outcomes.

Some collaborative research benefits of rare diseases that emphasize the need for resources include:

Getting Knowledge on Fundamental Biology

Studying rare diseases helps scientists understand how cells function when you are healthy or sick. Most rare diseases are caused by mutations in single genes.

As researchers look at these genes and the proteins they produce, they can find important cellular pathways related to metabolism and cell growth. For example, research done on familial hypercholesterolemia shows how cholesterol is regulated in cells.

This finding led to the development of statins, lifesaving drugs that lower cholesterol and prevent heart attacks.

Promoting Drug Development

Rare disease research reveals faulty molecular pathways, helping to identify new drugs. We have a study done of tuberous sclerosis complex (TSC).

It linked abnormal genes to the mTOR signaling pathway, which controls cell growth. This knowledge allowed for the creation of mTOR inhibitors like rapamycin.

Now, these inhibitors are used to treat both TSC and some types of cancers. Researchers focus on genetic causes to create treatments that apply beyond rare diseases.

Improving Diagnostic Accuracy

Many rare diseases are hard to diagnose, causing patients to struggle with symptoms they don’t understand. Research improves genetic testing and diagnostic tools.

This action helps reduce misdiagnosis and allows patients to get fast treatment.

Improving Understanding of Common Diseases

Rare diseases often mirror severe forms of common disorders. For instance, Hutchinson-Gilford progeria syndrome is a rare premature aging condition that includes symptoms such as:

Hair lossHigh blood pressureWrinkled skinHardening of the arteriesHeart failure

As scientists research the defective genes of this condition, they get more insights into the aging process. Additionally, they can find possible interventions for cardiovascular diseases.

Enhancing Patient-Centered Care

Teamwork in healthcare means involving patients in research design. It helps make rare disease studies more relevant and effective.

Patient advocacy groups ensure that research addresses quality-of-life issues, access to treatments, and care.

Frequently Asked QuestionsWhat Is the Most Extremely Rare Disease?

There are a lot of rare diseases, but one of the rarest is fibrodysplasia ossificans progressiva (FOP). It’s also known as the Stoneman Syndrome. Patients with this condition often experience their connective tissue, such as muscles, turning to bone.

This disorder starts in the neck and spreads to other lower parts of the body. Stoneman Syndrome often reduces body movement, such as opening the mouth.

This condition doesn’t have a treatment, but research partnerships can lead to breakthroughs.

What Is the International Collaboration on Rare Diseases and Orphan Drugs?

International Collaboration on Rare Diseases and Orphan Drugs (ICORD) is an international community of people involved in rare diseases and orphan drugs. Members of this community often include patient groups, HCPs, researchers, and regulatory authorities.

This community’s goal is to make patients with rare diseases enjoy quality care through knowledge. ICORD often has annual meetings to discuss collaborations in rare diseases and orphan drugs.

Why Is Rare Disease Advocacy Important?

Rare disease advocacy connects patients with researchers, pharmaceutical companies, and policymakers. Patient advocacy organizations often help to drive research priorities.

They focus on unmet medical needs, ensuring that patients’ views shape research design. They also offer education, emotional support, and connections to clinical trials. 

Breaking Barriers in Rare Disease Research

Rare disease research is the way to go if we want to improve the quality of life of our patients. Through patient engagement, international partnerships, and innovation, rare condition breakthroughs are becoming possible.

You can join in these efforts to bring change to the lives of millions globally. Collaborative support networks can also include families that have loved ones with rare conditions.

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