A Report on the Current Status of Rare Diseases and Key Findings for 2021


According to an article recently published in Business Wire, Global Genes, a leading advocacy group, released a progress report on rare diseases. The report includes data and studies as well as key findings such as a significant increase in the number of rare diseases across the globe, from a number frequently used of 7,000, to 10,869 worldwide.

  • Other findings showed that from 2015 through 2020, eighty-four percent of drugs that received accelerated approval by the FDA were given orphan drug designations.
  • Orphan diseases are those that affect less than 200,000 people in the U.S. They can often be severe and life-threatening.
  • Funding for the development of drugs for rare diseases increased by twenty-eight percent in 2021. A total of $22.9 billion from private and public equity, as well as financing, outpaced various health segments and biotech.
  • Rare conditions carry a burden that is up to five times higher than the financial burden of others. This finding was reported by the EveryLife Foundation.

A critical report called NEXT gives expert viewpoints on improvements and innovations that are needed to advance rare disease therapies:

  • Integrating data (de-siloing) that has thus far been maintained separately will result in earlier diagnosis, treatment, and education for rare diseases.
  • Artificial Intelligence (AI) together with machine learning are essential in finding chronic medical conditions (underlying conditions).
  • Patient organizations are becoming more involved in developing drugs and gene therapy. They have been going well beyond fundamental academic research.
  • These patient organizations are creating worldwide frameworks that will address inequities in the rare disease community.

Based on the significant increase in rare diseases, once we have moved beyond COVID, rare disorders should become a universal health priority.

Global Genes CEO Craig Martin stated that the NEXT report gives every indication that rare diseases will be an important field for novel biotechnologies, such as regenerative medicine.

Global Genes’ Mission

Global Genes is dedicated to helping patients and their families throughout the world with the daily challenges associated with rare diseases.

Global Genes stresses the importance of empowerment as well as innovation and progress. The organization serves over four hundred million people worldwide.

For more information, please contact Global Genes at 949-248-RARE or their Resource Hub.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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