About this Research Topic

Background

A rare disease (RD) is any disease that affects a small percentage of the population. In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens. There are more than 7000 RDs worldwide. Although individually rare, collectively RDs are estimated to affect 350 million people globally. Most rare diseases are genetic and are present throughout a person's entire life, even if symptoms do not immediately appear. RDs are characterized by each having a wide diversity of symptoms, which can vary from patient to patient. Symptoms of RDs can also appear to be similar to those of common diseases. These factors mean that RDs can often be misdiagnosed.

According to the Global Genes organization, 8 out of 10 RDs are caused by a faulty gene and approximately 75% affect children, yet it takes an average of 4.8 years to arrive at an accurate diagnosis. This is part of the reason for 30% of children with RDs not living to see their fifth birthday. There are numerous challenges and issues that need to be addressed, ranging from technical to theoretical points of view, such as the small number of patients (often children), the heterogeneity of the disease, and the limited amount of national/international data resources.

The development of new technologies, such as genomic analysis by means of next generation sequencing (NGS) and other “omics technologies”, has boosted the molecular understanding and diagnosis of RDs. However, there is a growing need to develop new methods to integrate multi-omics data from different technologies. Furthermore, the ability of AI technologies to integrate and analyze data from different sources (e.g., multi-omics, patient registries) can be used to overcome further challenges, such as low diagnostic rates, reduced number of patients, and geographical dispersion. Ultimately AI-mediated knowledge could significantly boost therapy development for RDs.

The goal of this Research Topic is to publish original manuscripts that address broad challenges on both the application and theory of AI and multi-omics in the field of RD. Potential topics include, but are not limited to, the following:

• The application of AI in RD: how AI can solve/help RD diagnostic?
• AI approaches to solve RDs challenges such as low diagnostic rates, reduced number of patients, geographical dispersion, limited annotated data.
• Limitations of current AI approaches and how can we improve it
• Development or application of multi-omics methods for RD diagnosis
• Novel statistical methods for multi-omics data integration in RD

We welcome submissions of the following article types: Brief Research Report, Correction, Editorial, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Review and Technology and Code.

Keywords: artificial intelligence, multi-omics, rare diseases, bioinformatics, diagnostic stalemate

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Frequently asked questions

• What is a Research Topic?

  Frontiers' Research Topics are collaborative hubs built around an emerging theme.Defined, managed, and led by renowned researchers, they bring communities together around a shared area of interest to stimulate collaboration and innovation.

  Unlike section journals, which serve established specialty communities, Research Topics are pioneer hubs, responding to the evolving scientific landscape and catering to new communities.

• Why does Frontiers publish Research Topics? 

  The goal of Frontiers' publishing program is to empower research communities to actively steer the course of scientific publishing. Our program was implemented as a three-part unit with fixed field journals, flexible specialty sections, and dynamically emerging Research Topics, connecting communities of different sizes and maturity.

  Research Topics originate from the scientific community. Many of our Research Topics are suggested by existing editorial board members who have identified critical challenges or areas of interest in their field.

• Why are Research Topics important for journals?

  As an editor, Research Topics will help you build your journal, as well as your community, around emerging, cutting-edge research. As research trailblazers, Research Topics attract high-quality submissions from leading experts all over the world.

  A thriving Research Topic can potentially evolve into a new specialty section if there is sustained interest and a growing community around it.

• How do we ensure the quality of articles within Research Topics?

  Each Research Topic must be approved by the specialty chief editor, and they fall under the editorial oversight of our editorial boards, supported by our in-house research integrity team. The same standards and rigorous peer review processes apply to articles published as part of a Research Topic as for any other article we publish.

    In 2023, 80% of the Research Topics we published were edited or co-edited by our editorial board members, who are already familiar with their journal's scope, ethos, and publishing model. All other topics are guest edited by leaders in their field, each vetted and formally approved by the specialty chief editor.

• What are the benefits of publishing my article in a Research Topic?

  Publishing your article within a Research Topic with other related articles increases its discoverability and visibility, which can lead to more views, downloads, and citations. Research Topics grow dynamically as more published articles are added, causing frequent revisiting, and further visibility.

  As Research Topics are multidisciplinary, they are cross-listed in several fields and section journals – increasing your reach even more and giving you the chance to expand your network and collaborate with researchers in different fields, all focusing on expanding knowledge around the same important topic.

  Our larger Research Topics are also converted into ebooks and receive social media promotion from our digital marketing team.

   
• What types of articles can be published in a Research Topic?

  Frontiers offers multiple article types, but it will depend on the field and section journals in which the Research Topic will be featured. The available article types for a Research Topic will appear in the drop-down menu during the submission process.

  Check available article types here 

• Can I suggest a new Research Topic? 

  Yes, we would love to hear your ideas for a topic. Most of our Research Topics are community-led and suggested by researchers in the field. Our in-house editorial team will contact you to talk about your idea and whether you’d like to edit the topic. If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. 

  Suggest your topic here 

• Who leads a Research Topic? 

  A team of guest editors (called topic editors) lead their Research Topic. This editorial team oversees the entire process, from the initial topic proposal to calls for participation, the peer review, and final publications.

  The team may also include topic coordinators, who help the topic editors send calls for participation, liaise with topic editors on abstracts, and support contributing authors. In some cases, they can also be assigned as reviewers.

• What is the role of a topic editor?

  As a topic editor (TE), you will take the lead on all editorial decisions for the Research Topic, starting with defining its scope. This allows you to curate research around a topic that interests you, bring together different perspectives from leading researchers across different fields and shape the future of your field. 

   

  You will choose your team of co-editors, curate a list of potential authors, send calls for participation and oversee the peer review process, accepting or recommending rejection for each manuscript submitted.

• What support will I receive when editing a new Research Topic? 

  As a topic editor, you're supported at every stage by our in-house team. You will be assigned a single point of contact to help you on both editorial and technical matters. Your topic is managed through our user-friendly online platform, and the peer review process is supported by our industry-first AI review assistant (AIRA).

• As a junior researcher, can I be involved in editing a Research Topic? 

  If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. This provides you with valuable editorial experience, improving your ability to critically evaluate research articles and enhancing your understanding of the quality standards and requirements for scientific publishing, as well as the opportunity to discover new research in your field, and expand your professional network.

• Can I get a certificate for editing a Research Topic?

  Yes, certificates can be issued on request. We are happy to provide a certificate for your contribution to editing a successful Research Topic.

• Who will I collaborate with?

  Research Topics thrive on collaboration and their multi-disciplinary approach around emerging, cutting-edge themes, attract leading researchers from all over the world.

• How long does it take to publish a Research Topic?

  As a topic editor, you can set the timeline for your Research Topic, and we will work with you at your pace. Typically, Research Topics are online and open for submissions within a few weeks and remain open for participation for 6 – 12 months. Individual articles within a Research Topic are published as soon as they are ready.

  Find out more about our Research Topics

• What fee support is available to authors publishing in a Research Topic?

  Our fee support program ensures that all articles that pass peer review, including those published in Research Topics, can benefit from open access – regardless of the author's field or funding situation.

  Authors and institutions with insufficient funding can apply for a discount on their publishing fees. A fee support application form is available on our website.

• Will there be a printed version of my RT?

  In line with our mission to promote healthy lives on a healthy planet, we do not provide printed materials. All our articles and ebooks are available under a CC-BY license, so you can share and print copies.