The discovery of an unknown organelle inside our cells could open the door to new treatments for devastating inherited diseases.

The organelle, a type of specialized structure, has been dubbed a “hemifusome” by its discoverers. This little organelle has a big job helping our cells sort, recycle and discard important cargo within themselves, the scientists say. The new discovery could help scientists better understand what goes wrong in genetic conditions that disrupt these essential housekeeping functions.

One such condition is Hermansky-Pudlak syndrome, a rare genetic disorder that can cause albinism, vision problems, lung disease and issues with blood clotting. Problems with how cells handle cargo are at the root of many such disorders.

The scientists believe hemifusomes facilitate the formation of vesicles, tiny blister-like sacs that act as mixing bowls, and of organelles made up of multiple vesicles. This process is critical to cellular sorting, recycling and debris disposal, the researchers report.

“We need diagnostic methods that are more rapid, reliable and capable of detecting multiple pathogens simultaneously,” explains Thai, who is one of the grant recipients of the 2023–24 Seegene Open Innovation Programme. “We also need to ensure that these tools are widely accessible and effectively integrated into clinical and laboratory workflows.”

Polymerase chain reaction (PCR) tests, which rose to worldwide fame during the COVID-19 pandemic, amplify tiny snippets of genetic material from pathogens in samples to levels that can be easily detected.

Seegene, a molecular diagnostics company based in Seoul, South Korea, has developed ‘syndromic multiplex PCR’ technology capable of detecting up to 14 pathogens in a single test.

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