Diagnosis and Identification of Novel Disorders and Ultra-Rare Disorders in Science and Clinical Routine

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Background

Rare diseases are those whose prevalence is below 5 cases per 10,000 inhabitants in the European Community and Orphanet has described more than 6000. The knowledge that one out of every ten people has a rare disease clearly highlights that rare disorders are in fact an important public health problem. Major advances have been made in recent years toward understanding the genetic basis for many genetic disorders. Unfortunately, despite the substantial advances, diagnostic delay is still an important issue for most rare disorders. Additional studies may be required to elucidate the mechanisms of the disease while serving the patient, due to the limited information about these diseases and even the fact that some diseases are observed for the first time in the world. That is why daily routine services related to these diseases sometimes turn into scientific research that can play a crucial role in the clinical service to the patient. When an undiagnosed disease is suspected, the contributions of the basic scientists may be as important as the physician evaluating the patient in the clinic. It is important that physicians who provide clinical services are informed about current research. Also, researchers must be informed of clinical information to help accelerate research progress on rare diseases.

It is important for physicians to consider the potential for rare diseases in clinical practice. This involves considering a rare disease as a possible diagnosis, being aware of referral options for patients to undergo diagnostic evaluation, knowing algorithms to follow when considering a rare disease, and being aware of the options for patients to receive service and to accelerate rare disease studies. There is value in distinguishing between rare diseases, ultra-rare diseases, and undiagnosed diseases. Making this distinction indicates situations where further scientific research is necessary. Tissue samples and clinical data of these patients, who are already few in number, are absolutely necessary for the development of knowledge about the disease.

The main problems are difficulties in the diagnosis of these disorders and care of the patients with a rare disease. The first and biggest problem is to differentiate a rare disease from a more common disease-causing similar phenotypes or phenocopies. Some comorbidities in these patients may complicate the clinical course of the disease. Care of these patients is very problematic due to a lack of knowledge, and experienced specialists.

The second problem is archiving cases for research in rare diseases and providing communication between physicians who encounter these patients. Articles originating from national and international registries for rare disorders and international natural history studies may pave the way for developing mandatory and highly anticipated health policies regarding the diagnosis and treatment of rare disorders.

The third problem is that the algorithms for the diagnosis and treatment of rare, especially ultra-rare diseases are still inadequate and sometimes difficult to implement in daily practice. Algorithms for the diagnosis or differential diagnosis of diseases or disease groups and sharing experiences with these algorithms are very valuable.

The fourth problem is the difficulties in suspecting a previously unknown, new disease and the lack of knowledge physicians have on the path to be followed when investigating a novel disease. Articles describing new cases and algorithms on both the identification of new diseases and the elucidation of the mechanisms of this disease by the physician or the researcher who encountered an undefined disease will be guiding. This Research Topic solicits manuscripts relevant to any of these four issues.

It is aimed to reduce the knowledge gap in this field by writing articles suitable for the following content with examples.
• New phenocopies
• National and international patient archiving activities
• Novel disorders or known disorders with unexpected phenotype
• Findings that alert physicians to suspect a rare disease- rare disease flags
• The path and algorithm to be followed by a physician who suspects a rare and undiagnosed disease
• Diagnostic guidance for the identification of a new disease
• How to facilitate the diagnosis of a rare disease in general as well as specialty practice: algorithms, clinical decision support, artificial intelligence, ‘Dr. Google’, ‘How to find a zebra’
• Guidelines and flags for ultra-rare disorders

It is important to note that, novel mutations or a new case of a rare disorder is beyond the scope of this issue.

We emphasize that all submissions must follow journal guidelines. In particular Case Reports are required to have a CARE checklist, and other manuscripts are highly encouraged to have either a CARE checklist or other EQUATOR guideline.

Topic Editor Prof. Serdar Ceylaner is the director, partner, and founder of Intergen Genetics. All other Topic Editors declare no competing interests with regard to the Research Topic subject.

Keywords: Rare disease, ultra-rare disease, undiagnosed disease, patient groups, genetic methods, functional analysis

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.

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