Health 411- Down Syndrome Study

Down syndrome, also known as Trisomy 21, is a common genetic condition affecting roughly 1 in 700 live births in the United States.

A recent study that came out in February 2025 that studied skin cells from an individual with Down syndrome to determine if it was possible to genetically engineer the extra chromosome out of the DNA. This study's aim was to see if it was possible to use CRISPR-CAS9 (a technology used to modify genetic code and expression), to be able to completely knock out a chromosome. The reason these researchers used the DNA from an individual with Down syndrome was because the third chromosome is a clear marker that they can see easily to determine if they were successful or not.

However, one Press Release article covering this research wrote a piece that incorrectly frames the study as a possible way to "cure" Down syndrome, which is not at all what the researchers were attempting to do. This week, Dr. Jonathan Karp and student producer Kaya Basatemur go through the details of this study, what the scientists' goals were, and why the Press Release article did not accurately describe anything that the researchers did. Tune in to find out more about this interesting study, possible future research, and practical uses of CRISPR-CAS9 genome editing technology!