Rare disorders present both a tough challenge and a special opportunity for medical science, due to their unique genetic and phenotypic diversity. Characteristically, these diseases have low prevalence, but their profound complexity impacts individuals and health-care systems globally.
The rarity of these conditions limits scientists’ understanding and ability to research them (see sample-size and data-related challenges in the callout box). As a result, patients and their families often struggle with diagnostic delays, frequent misdiagnoses, and socioeconomic burdens. Marginalized populations face additional challenges: they are often underrepresented in clinical trials and genome-wide studies, a problem that leads to a critical lack of effective treatments and to broader racial disparities in health-care access.
Rare disorders do, however, present medical science with an extraordinary opportunity to tailor diagnostic and therapeutic strategies that take into account global variations based on geography, ethnicity, and population groups. Innovations in genetic sequencing and diagnostics, alongside such emerging treatments as gene therapies and precision medicine, offer new hope. The ability to harness technology and big data, including artificial intelligence, machine learning, and telemedicine, promises to revolutionize research and to make patient care more personalized and effective.
To accomplish these goals, however, the rare-disease research field requires more investigators from diverse backgrounds and more consistent funding. This is where the National Organization for Rare Disorders (NORD) and its student chapters (like ours at Purdue University) are stepping in. The organization aims to correct gaps in diversity and funding by working to build awareness, to advocate for more financial support, and to offer support to those in the rare-disease community.
Building Awareness
NORD collects facts and statistics on rare diseases, maintains a rare-disease database, and shares patient stories to increase knowledge of the diseases and their impact on patients. Student chapters work to spread awareness and to provide opportunities to support patients dealing with these conditions. The chapters organize events, workshops, and seminars that highlight the unique needs of these communities, thereby encouraging empathy and understanding. By including diverse voices in their activities, the chapters ensure representation and inclusivity for all affected individuals. Additionally, by collaborating with patient-advocacy groups, hearing stories, and reaching out to medical professionals, they amplify the voices of those directly impacted, promote awareness, and drive meaningful change.
The student chapter of NORD at Purdue University offers coursework in rare disorders to educate potential researchers; to provide students with a comprehensive understanding of the disorders’ causes, progression, and challenges; and to identify research gaps and opportunities for innovation. Courses often include practical components like lab work, data analysis, and case studies, which help participants develop the technical skills needed for investigations in this specialized field. The classes raise awareness about the unique challenges faced by individuals with rare disorders, fostering empathy and a desire to make a positive impact. Students and researchers gain inspiration to become advocates and to pursue studies that address these challenges, and they get the opportunity to connect with peers and professionals who share their interests. This networking can lead to collaborative projects and partnerships that advance the field. Educational courses often provide access to a wealth of resources— including databases, case studies, and expert insights— which can inform and inspire new research directions, make investigators aware of special challenges, and help them find solutions.
The efforts of our student chapter to educate ourselves and others can significantly contribute to public understanding and to early recognition of rare disorders, an excellent outcome because early detection can save lives! We offer engaging articles, video lectures, quizzes, and downloadable resources online to spread the word.
Fundraising
Adequate and equitably distributed funding is crucial in transforming the research landscape and societal outcomes for rare disorders. Financial support should extend beyond prestigious institutions to embrace young investigators from diverse backgrounds and places and to foster a more inclusive and innovative research environment. This approach would enable groundbreaking studies across diagnostics, treatments, and patient care, irrespective of a researcher’s race or ethnicity.
Expanded financial support would not only accelerate scientific discovery but would also ensure that advancements in rare-disease research benefit a wider segment of society. Clinical research trials could afford to include diverse and inclusive participants and to work toward solutions that enhance health-care equity and improve quality of life for all patients with rare disorders.
Currently, NORD offers grants that are funded largely by patients and patient-advocacy organizations. This funding crucially supports research and awareness campaigns, helping to ensure that the rare-disorders community receives the attention and support it needs to advance meaningful progress.
Collaboration and Community
Through collaborative research and lab work, scientists can make significant advances in the detection, prognosis, and treatment of rare disorders, ultimately improving patient outcomes and quality of life. Developing standardized protocols, improving bioinformatics tools, and including patient and family histories in research are all key.
In addition, patient-advocacy and support groups play a crucial role and represent the importance of a community-centric approach. Participating in and growing the national and international student chapters helps to build awareness further and to advocate for the research funding that is so very crucial.
NORD’s vision remains rooted in personal experiences and is dedicated to patient-centric research. As we work together to push for better understanding and treatment for rare disorders, we urge researchers, health-care professionals, and the broader community to build a united front to effect real change.
Overview of Challenges in Rare-Disorder Research
Pioneering research in rare disorders requires sophisticated analytical techniques, including mass spectrometry in genomics, proteomics, metabolomics, lipidomics, etc. It also presents challenges related to sample size and sample preparation, which can affect the reliability and reproducibility of research findings. Researchers should be mindful of the following challenges:
- Technical Challenges:
• Detecting low-abundance biomarkers and preserving various biomolecules during sample preparation can be difficult due to the complexities involved.
• Analyzing and integrating vast datasets requires sophisticated computational tools and expertise.- Financial Challenges:
• Research into rare disorders often faces funding limitations due to the small number of affected individuals, which may deter interest from major funding agencies and pharmaceutical companies
• The high costs associated with the necessary equipment and consumables pose additional financial burdens.- Ethical and Regulatory Challenges:
• Recruiting enough participants for studies is challenging due to the low prevalence of these disorders. Ethical considerations around patient consent and the protection of sensitive genetic information complicate research efforts.
• Balancing the advancement of research with the need for privacy protection is a significant concern.- Data-Related Challenges:
• Managing, storing, and interpreting large volumes of data requires robust systems and significant technical skills.
• The absence of comprehensive reference datasets for many rare diseases complicates the validation of new findings.- Sample-Size Challenges:
• The rarity of these disorders makes it difficult to gather sufficient biological samples that are necessary for statistically significant findings.
• Genetic and phenotypic diversity among patients requires larger sample sizes to ensure that research findings are representative and capable of identifying subtypes within diseases.- Sample-Preparation Challenges:
• The complexity and variability of rare disease samples necessitate meticulous optimization of sample preparation techniques to maintain biomolecule integrity and to avoid cross-contamination.- Social Considerations:
• Ensuring inclusivity and diversity in clinical trials and addressing socioeconomic barriers are crucial to making health-care advancements accessible to all segments of the population.
Behnaz Akbari received her BS in chemistry & MSc in analytical chemistry in Iran. In 2019, she joined the University of Nebraska-Lincoln and obtained a second MSc in chemistry (2021). To advance her career in medicine, she pursued her interests at Boston University School of Medicine and received her third MSc in 2022 in bioimaging (e.g., MRI). She is continuing her PhD studies at Purdue University. She received several awards and educational grants. She is also the President of the Purdue University Chapter of the National Organization for Rare Disorders.
This article was originally published in AWIS Magazine. Join AWIS to access the full issue of AWIS Magazine and more member benefits.