We made it to PNAS!

Read our new evolution study on the human ribosomal RNA (rRNA) genes here.

Our paper identifies a massive amount of sequence diversity within the human rDNA, yet shows that the regions encoding the core rRNA are extremely conserved. This suggests that there exists strong purifying selection as these variants might be harmful and cause disease.

While other ribosomal errors (like mitochondrial mutations or protein dosage) are known to cause illness, no disease-causing rDNA variants have been found. This is surprising and this discovery explains this paradox. It has been hard to find because standard studies focus on high-copy variants. These rDNA deleterious variants are being actively suppressed to very low copy numbers, making them invisible to current disease-mapping algorithms that ignore low-frequency "noise".

It was a personally fulfilling journey to work on this because:

• it sparked my curiosity in Biology

  • how could this ribosomal DNA (rDNA) sequence fundamental to all protein synthesis remain one of the least characterized region in the human genome?

  • and what could this mean for human health and disease if we better understood this region

• it gave me purpose and a calm certainty in wanting to continue applying my computational skills to this domain

• I loved working with the smart and kind people in the lab

Anyway nerd out and give it a read!