The Importance of Rare Disease Research

As beautiful as life maybe and is, it does not come without its drawbacks. As long as human beings have existed on the planet, unfortunately so have miserable occurrences such as disease, as well as what are known as rare diseases. Nonetheless, with the advancement of medical research and science, humanity has done and is doing its best to combat such things. Rare disease research is especially important for variety of reasons. Rare disease research is critical because it provides invaluable insight, identifies risk factors, identifies disease trends, and it is important for the overall protection of the general public.


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 What is a rare disease? Let us examine the United States of America (USA) in an attempt to tackle this inquiry. According to the United States Census there are approximately 359 million people dwelling the USA1. This number becomes especially important when you recognize that in the USA a rare disease is defined as a disease that impacts less than 200 thousand people2. These numbers become yet more impactful when you can recognize that there are approximately .00055 percent of people suffering from rare diseases in the USA at any given time.

Rare Disease Data

 According to scientific data there are approximately seven thousand rare diseases that have been identified in the USA2. Furthermore, of those seven thousand known rare diseases about three out of four can be attributed to affecting young children2. Additionally, what is most devastating as it pertains to rare diseases is that three out of ten patients who suffer from rare diseases will not live past the age of five2. This truly highlights the significance of rare disease research in the world.

Nonetheless, countries such as the USA have acted and there is some positive news as it pertains to advancement in rare disease research. The Federal Drug Administration (FDA) in 1983 passed what is known as the orphan drug act2. The orphan drug act was created to incentivize companies that develop drugs and medicine to also focus on rare disease research2. The orphan drug act has been quite effective, and as resulted in over 350 drugs and treatments that have been developed sole to combat rare diseases2. 

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Rare Disease Research and The Usage of Zebrafish

Zebrafish have proven to be a great tool in the study and advancement of rare disease research. 

Zebrafish have a uniquely similar genetic structure to that of human beings. In addition, they share more than eighty percent of genes involved with human diseases. Furthermore, zebrafish have become one of the most highly sought-after rare disease models when it comes to rare disease research, and their popularity continues to increase year by year3. 

Advanced scientific instruments and technologies such as CRISPR-Cas, make it possible to create nearly any rare genetic mutations in zebrafish3 more directly and in a more efficient way. These genetic mutations can then be utilized for medical screening that facilitate the research of how rare diseases potentially develop and function. Moreover, this is excellent news because medical researchers have a convenient and readily accessible way of conducting intricate rare disease research that will undoubtedly benefit humanity, and especially our young people.   

Furthermore, it is important to note that approximately 84 percent of human genes known to be associated with diseases have a complement in zebrafish. For this reason, the majority of disease-causing genes are able to be replicated using zebrafish models3. Many researchers believe that the use of zebrafish in rare disease research will play a critical role in figuring out how rare diseases function develop and operate. 

The Importance of Zebrafish in Rare Disease Research

It is important to note that throughout the world rare disease variants continue to be discovered. However, at the same time, rare disease treatments and therapies continue to be scarce4. The usage of the zebrafish model can help and is aiding the the advancement of rare disease research, and zebrafish provide a more time and cost-efficient to conduct this type of research.


  1. Worldometer, ‘United States Population’ date accessed on 6/26/2022:
  2. RDR, ‘Rare Disease Research’ date accessed on 6/26/2022
  3. NIH, ‘Use of Zebrafish Models to Boost Research in Rare Genetic Diseases’ date accessed on 6/26/2022
  4. Frontiers in Genetics, ‘Genetics of Common and Rare Diseases’ date accessed on 6/26/2022:

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