We are independent & ad-supported. We may earn a commission for purchases made through our links.

Advertiser Disclosure

Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.

How We Make Money

We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently from our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is an Orphan Disease?

Mary McMahon
By
Updated Mar 03, 2024
Our promise to you
TheHealthBoard is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At TheHealthBoard, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

An orphan disease is a disease which does not attract very much public attention, research, or funding, typically because it is extremely rare and poorly publicized. Thousands of such diseases can be found worldwide, ranging from extremely rare genetic disorders like Fatal Familial Insomnia to tuberculosis, which doesn't attract attention in industrialized nations due to the low incidence of reported cases. In several nations, efforts have been made to promote research into orphan diseases, with the goal of treating people who suffer from these conditions.

A rare disease may become an orphan disease for two reasons. In the first instance, any disease which afflicts less than 200,000 people is generally considered to be an orphan disease, because there are not enough patients to make research cost-effective. Diseases which are common in the developing world but rare or unheard-of in the industrialized world are also termed orphan diseases, because they fail to attract attention from major pharmaceutical companies.

Many orphan diseases are genetic in nature, which can make them very challenging to study, let alone treat. Others take the form of extremely rare viruses, unusual bacteria, or peculiar allergies, and they may take time to diagnose and write up, so they slip through the cracks for months or years until someone begins to connect multiple incidences of the same condition. Researchers such as epidemiologists are often more in touch with emerging diseases than others, but they cannot attract enough attention to extremely rare diseases to make the general public aware of the issue.

From the point of view of pharmaceutical companies, orphan disease research is a loser. To sink a serious investment of time and energy into a potential treatment for a disease which could only be sold to a limited market is, simply, not worth the time. Some governments have recognized this, and provided funding incentives to pharmaceutical companies which choose to research orphan diseases, in the hopes of attracting more interest in developing treatments for these conditions.

Causes which focus on a specific orphan disease also have trouble getting funding, because they are not heavily publicized. Some charity organizations, recognizing this, have banded together under the general umbrella of rare disease research, rather than trying to get funding for a single disease. Donors often feel more comfortable donating to a blanket organization which will distribute the funding as it sees fit than trying to donate to a multitude of causes. These organizations can also privately sponsor challenges to identify, treat, and potentially prevent or cure specific orphan diseases.

TheHealthBoard is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a TheHealthBoard researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments

By BioNerd — On Mar 03, 2011

Random mutations in the human genome can be considered to be diseases. The distinctions are often shady. If a baby is born with lumps on his head and his brothers also develop lumps on the skull over time, then that family may have an orphan disease of random skull lumps. This could also take the form of extra deposits of calcium on the cheekbones, in which case it would simply be considered a family trait and not necessarily a disease or problem.

By Armas1313 — On Mar 02, 2011

@ShadowGenius

Actually, antibiotics affect bacterial growths primarily, but influenza shots, for instance, often simply contain a small dose of the virus, which enables the body to effectively defend against it. When the body can effectively defend against these viruses, the viruses tend to evolve into new forms over time. So we are simply speeding their evolution, but they would evolve anyway eventually.

By ShadowGenius — On Feb 28, 2011

New diseases mutate as fast as human DNA, and can appear in random places and in random forms. Viruses are constantly forming new strands due to antibiotics. The more antibiotics we manufacture, the more antibiotics will be needed in the future. We are effectively creating a short-term remedy for diseases and letting them mutate to ever more complex forms. But we don't care, cause we'll be dead before they affect us again. We'll let our children deal with it.

Mary McMahon

Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

Read more
TheHealthBoard, in your inbox

Our latest articles, guides, and more, delivered daily.

TheHealthBoard, in your inbox

Our latest articles, guides, and more, delivered daily.