The 6 Rare Diseases Changing Modern Medicine

TL;DR

Research on rare diseases not only benefits those directly affected but also provides valuable insights into common diseases.

Transcript

SciShow is supported by Skillshare. Right now, Skillshare is offering SciShow viewers two months of unlimited access to over 20,000 classes for free. Click on the link in the description to learn more. [♩ INTRO] Individually, rare diseases are... rare. In the US, we usually say that a disease is rare when it affects fewer than 200,000 people in the... Read More

Key Insights

• 👯 Rare diseases, collectively affecting millions of people, are not as rare as their individual classification suggests.
• 🥺 Research on rare diseases can lead to breakthroughs in the treatment of more common diseases.
• 🧑‍🏭 Genetic studies of rare diseases have identified important genetic risk factors for other diseases, such as Parkinson's.
• ☠️ Rare diseases can provide important insights into the basic biology of the human body, such as bone mineralization and hormonal regulation.
• 🧑‍⚕️ Some rare diseases, such as Laron syndrome, come with unexpected advantages that could have broader implications for health and disease prevention.
• ❓ Rare diseases can confirm findings from animal studies and provide evidence for the relevance of certain mechanisms in humans.
• 🥺 Research on rare diseases can lead to the development of targeted therapies and improve the understanding of complex diseases.

Questions & Answers

Q: How many Americans have a rare disease?

Approximately 30 million Americans have a rare disease, which is about the same number as those with type 2 diabetes.

Q: What is the relationship between rare diseases and common diseases?

Many rare diseases are caused by simple, known mechanisms, which can provide valuable information about what can go wrong in more common diseases.

Q: How did research on a bone mineralization disorder lead to an osteoporosis drug?

Studying hypophosphatasia (HPP) led researchers to discover the role of pyrophosphate in bone mineralization. This finding led to the development of bisphosphonate, a drug now commonly used for osteoporosis.

Q: How has research on Gaucher disease contributed to our understanding of Parkinson's disease?

Gaucher patients were found to have an increased risk of developing Parkinson's disease. This finding suggests a genetic link between the two conditions and may provide insights into the causes of Parkinson's.

Q: How are rare diseases helping in the fight against Ebola?

The discovery that Ebola targets the NPC1 protein, which is mutated in Niemann-Pick disease, has allowed researchers to develop new drugs to prevent Ebola infection by blocking NPC1.

Summary & Key Takeaways

• Rare diseases are classified as those affecting fewer than 200,000 people in the US and are estimated to total around 7000 different conditions.

• The study of rare diseases can provide insights into how our bodies work and what can go wrong, leading to potential treatments for more common diseases.

• Research on rare diseases has led to the development of drugs for osteoporosis, contributed to our understanding of Parkinson's disease, and may help combat Ebola and improve lifespan.