TED: The world's rarest diseases — and how they impact everyone | Anna Greka

The video explores the genetic mystery of the Nelson family, who suffered from a hereditary kidney disease caused by a mutation in the Mach 1 gene. This mutation was identified by geneticists, leading to insights into the disease's mechanism and potential treatments. The research highlights the importance of molecular sleuthing and the use of modern technologies in genetic research. The findings have broader implications for treating various genetic disorders, offering hope for many affected families.

What was the cause of the mysterious disease affecting Roscoe Nelson's family?

• A bacterial infection

• Environmental factors

• A mutation in the Mach 1 gene

• A virus

What is the main idea behind molecular sleuthing?

• Studying ancient scientific methods

• Solving crimes using DNA

• Using curiosity-driven science to solve scientific mysteries

• Developing new technologies for research

How did modern tools enhance the process of molecular sleuthing?

• By automating the entire research process

• By reducing the need for human researchers

• By eliminating the need for microscopes

• By allowing the study of more experimental conditions simultaneously

What was the result of the molecular sleuthing on the Mach 1 gene mutation?

• The mutation led to a misshapen protein accumulating inside cells

• The mutation was unrelated to the disease

• The mutation caused the protein to function normally

• The mutation was found to be harmless

What was the key discovery in treating the mutant protein?

• A new type of dialysis

• A new surgical procedure

• A compound that removes the mutant protein

• A change in diet

What group of disorders does the research on the Mach 1 gene mutation relate to?

• Viral infections

• Toxic proteinopathies

• Autoimmune diseases

• Cardiovascular diseases

What potential does the research have beyond treating kidney disease?

• It can treat a wide range of diseases affecting different organs

• It is limited to genetic disorders

• It can only treat kidney diseases

• It is only applicable to eye diseases

How are patients and families contributing to scientific research?

• By funding all research projects

• By using social media to organize and raise awareness

• By developing new technologies

• By conducting their own experiments

What percentage of people in North America are affected by rare genetic diseases?

• 20%

• 10%

• 5%

• 1%

How many genes known to cause genetic diseases have treatments developed?

• 2000

• 500

• 100

• 8000