In Honor of Rare Disease Day: Spotlight on Shalla

At BlueGene Search, our connection to the biotech space is personal. We’re beginning a series of patient and company profiles, and in honor of rare disease day, wanted to begin with Shalla’s story.  

Shalla has an ultra-orphan rare disease: It's an immunodeficiency allele variant yet to be seen in any other person globally. 

Rather than let this get in her way, it drove her passion to specialize in rare auto-inflammatory, immune dysregulations, and genetic/genomics (whole genome sequencing and somatic disorders). 

In addition to an extremely impressive academic and professional career, Shalla also co-founded, Still’s Disease, the 411, a rare disease online publication and website. It was founded on the idea to put science in the hands of both providers and patients, creating patient centered shared medicine. 

Shalla is passionate about research, as well as participating as a patient in research to help others who often feel silenced due to their rare disease. 

She is particularly vocal about women with rare diseases and the cognitive gender biases experienced by women in healthcare. Shalla also advocates for bridging the pediatric expertise in rare diseases, especially with earlier genetic analysis, with their adult peers to help earlier diagnosis and treatment in the adult population.

Shalla advocates for patients to stop apologizing for being complex and embrace the first sentence in their medical notes “complex patient presents with…” She advocates for metacognition and collaboration of specialists to better focus on patient centered care. 

We are so thrilled to spotlight Shalla and her journey! Go here to learn more about Still’s Disease, The 411.

BlueGene Search is not affiliated with Still’s Disease, the 411.