GCC 1906: Rare Diseases: What It Takes to be a Medical Orphan

This guide covers search tools for research in topics related to rare diseases and medical research.

Example keywords and search terms

Use a variety of search terms and key words as you search. It will help you find relevant results. Learn more about keywords and developing a search strategy (3 minute video).

  • rare disease
  • orphan disease
  • diagnosis
  • treatment
  • genetics
  • etiology
  • pathology
  • undiagnosed diseases

Find journal articles

Sample ebooks

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research.

Psychosocial Considerations for Children and Adolescents Living with Rare Diseases
This Special Issue of the journal Children constitutes an opportune moment to reflect on the psychosocial needs of children living with rare diseases and of their families. As medical advances, treatments, and developments have enabled many of these children to survive infancy and to live into adulthood, progress brings with it concerns and opportunities to enhance the psychosocial quality of life of children living with rare diseases, and of their families. This Special Issue reflects the current state of psychosocial research, which is primarily qualitative in nature. There are no scientifically rigorous randomized clinical trials to create an evidence base of effective psychosocial interventions for the provision of care to children with rare diseases and to their families; nevertheless, the papers within this Special Issue provide a reflection on the state of the science, including ideas about future research and practice. In this next section we share observations about the contributions made by each of the 13 articles, which cover a diverse range of topics.

Collaboration: a key to unlock the challenges of rare diseases research
There are a staggering 6000 to 8000 life-threatening rare diseases each affecting no more than 5 in 10,000 people. It is estimated that altogether rare diseases affect around 30 million people in the European Union. Many rare diseases manifest themselves during childhood and are chronic disabling conditions, resulting in a shortened lifespan and causing significant suffering to the people living with them as well as their families. Those affected by rare diseases often spend years enduring a "diagnostic odyssey" before receiving the correct diagnosis, if they receive it at all. About 95% of the known rare diseases lack any approved treatments, representing an enormous unmet medical need. Rare disease patients often need highly specialised healthcare and social services, resulting in time lost to finding the right services and high costs for their families and for society. Each rare disease affects a small number of people, each with its specificities, leading to a scarcity and a fragmentation of knowledge and expertise. This is why rare diseases are recognised as a field in which European and international collaboration are indispensable to improve diagnosis and find treatments.

Additional links:

Genetic and Rare Diseases (GARD) Information Center
Provides support for patients and families by providing reliable and understandable information on rare diseases. This is a newly redesigned website and undergoing updates regularly.

National Organization for Rare Disorders (NORD) Rare Disease Information for Clinicians and Researchers
Education for medical professionals on rare diseases (including CMEs), online physician guides and information to give to patients, links for applying for research grants, and more.

Rare Diseases Registry Program (RaDaR)
This site provides the rare diseases community with easily accessible guidance on how to set up and maintain high-quality registries, usually focused on a specific diagnosis or condition. The goal is to enable rare diseases patient organizations to better promote and support patient-focused research.

Rare Diseases Community Resources (NIH)
Explore free materials and resources to help patients, health care providers, scientists, etc. to learn about rare diseases and help advance research on them.

Rare Action Network
A patient advocacy organization committed to the identification, treatment, and cure of rare disorders through education, advocacy, research, and patient services.

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Last Updated: Jan 12, 2024 10:26 AM