SCi CRISPR Simulation

 

Thank you for being a beta tester for SCi’s CRISPR Simulation. Your feedback will help improve the simulation to better serve students. For any questions or additional comments, contact sci@hms.harvard.edu

1) Background Materials

šŸŽ¬ “How CRISPR letā€™s us edit our DNA“. Jennifer Duodna. Ted Talk Nov. 12 2015

 

šŸ“„ “FDA approves first test of CRISPR to correct genetic defect causing sickle cell disease” by Robert Sanders Berkeley News March 30, 2021.

Disease Reference Table

Sickle Cell Disease (SCD)

Beta-thalassemia Major

Cystic Fibrosis (CF)

Genetic Cause

SCD is caused by a single mutation in the Ā hemoglobin subunit beta (HBB) gene. Mutations in both copies of the HBB gene cause abnormally shaped red blood cells with impaired function.

Beta-thalassemia major is caused by one of more than 100 known mutations in the HBB gene. Mutations in both copies of the HBB gene cause impaired red blood cell production and function.

CF is caused by one of more than 1000 known mutations in the CFTR (cystic fibrosis transmembrane receptor). Mutations in both copies of the CFTR gene cause impaired chlorine transport across cell membranes of airways and ducts.

Pathology

Sickling of red blood cells causes anemia and blockage of small blood vessels, leading to severe pain and organ damage, and an average life expectancy of 48 years of age in the U.S. Ā 

Impaired hemoglobin in red blood cells causes life threatening anemia leading to impaired growth, jaundice, and organ failure, and an average Ā life expectancy of 30 years of age in the U.S..

Impaired chloride channel function causes mucus buildup in airways and duct dysfunction, leading to respiratory, digestive, and reproductive organ failure, and an average life expectancy 46 years of age in the U.S.

Epidemiology

There are approximately 100,000 individuals living with SCD in the U.S. SCD is most common in people with African and Asian ancestry.

There are approximatelyĀ 1000Ā individuals living with beta-thalassemia major in the U.S. Beta thalassemia is most common in people with Greek, Italian, Indian, Middle Eastern, and Northern African ancestry.

There are approximately 30,000 individuals living with CF in the U.S. CF is most common in people with European ancestry.

Existing Treatments

Regular blood transfusions, pain medications, stem cell transplants, hydroxyurea. There are 4 U.S. Food and Drug Administration approved medications for SCD and the mean annual U.S. SCD research funding is 914 million (adjusted per person affected, 2008-2017)*.

Regular blood transfusions, medications to reduce iron overload, surgeries, and bone marrow transplants. Ā Beta-thalassemia is considered a rare disease with relatively low annual research funding.

Mucus thinners, anti-inflammatory medications, digestive enzymes, lung transplants, and CFTR correctors. Ā There are 15 U.S. Food and Drug Administration approved Ā medications for CF and the mean annual U.S. CF research funding is approximately 10 billion (adjusted per person affected, 2008-2017)*.

References: Medlineplus.gov, CDC.gov, WHO.org

*Farooq F, Mogayzel PJ, Lanzkron S, Haywood C, Strouse JJ. Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity. JAMA Netw Open.Ā 2020;3(3):e201737.

2) Simulation

Note: The simulation makes use of randomization, so each run through might have different outcomes even if the same decisions are made. The situation set up also varies from session to session, adding an additional layer of complexity to the decision making process. We recommend that you run through the simulation multiple times not just to try out the different options but also to assess differences in the situation set up and outcomes.

šŸ’” Access the simulation

3) Feedback survey

šŸ“‹ Access the feedback survey