Improbable. A global metropolis rising from open desert simply should not exist. It should not work climatically, economically, or historically. And yet Dubai did it. At this year’s World Health Expo WHX in Dubai, one of the largest global healthcare gatherings with more than 60,000 participants, visitors entering the South Hall were greeted by a large-scale animation of synaptic vesicle fusion, the SNARE complex zippering into place guided by MUNC-18 (STXBP1). We developed this display to visualize mechanisms in genetic neurodevelopmental disorders. Watching this animation, I thought about improbability and about what makes complex systems succeed.
Tag Archives: rare disease
Cure vs. treat: the Babel problem in rare disease language
Language. There are a few words in medicine that seem simple until you say them out loud in front of the wrong audience. In rare disease clinics, two of them are cure and treat. We use them constantly, sometimes interchangeably, and rarely stop to ask what they do to hope, to expectations, and to the quiet contract between clinicians and families. In rare disease, language is not a neutral medium. It is an intervention.
Three things the beach told me about science in 2025
Rehoboth. It has been a while since I posted my annual post-beach-vacation thoughts about how my experiences at the shore made me think about science. I initially started these posts after a vacation in Marielyst, Denmark when I realized that my sandcastle building skills were not appreciated as much as I thought. This reminded me that similar things happen with our scientific achievements. Here is what the beach told me about science in 2025, twelve years after I started to compare academic endeavors with alluvial relaxation. Continue reading
STXBP1 – here is what you need to know in 2023
STXBP1. Today is the first day of the 1st European STXBP1 Summit and Research Roundtable, held from May 16-18th in Milan, Italy. This meeting is bringing together voices from academia, industry, organizations, and family foundations to discuss the current state of research – spanning from preclinical efforts investigating mechanisms of disease to moving towards the clinic and the future therapeutic landscape. In 2023, it feels like an understatement to say that STXBP1 is on the map. In spirit of the ongoing momentum in the field, we wanted to refresh the gene page and outline three emerging frameworks to think about STXBP1.
Decoding rare disease through 77,000 genomes
Genome sequencing. Despite continual progress in understanding the genetic etiology of human disease, more than half of rare disorders remain unsolved. Resolving the remaining etiologies in rare disease are a major focus of ongoing efforts in the field, including a shift towards standardized analysis of large-scale genome sequencing data from large patient cohorts. In a recent study, Greene and collaborators aimed to identify associations between genes and rare disease subgroups, leveraging genomes of 77,539 people including 29,741 probands. Here is a brief review on their publication in the context of etiological resolution in rare disease.
The future of biomarker development in rare disease
CNS Biomarkers. In the last two days, our team attended the Workshop for Multimodal Biomarkers in CNS Disorders held at the National Academies of Sciences, Engineering, and Medicine in Washington, DC. This conference provided a needed review of the current state of multimodal biomarker discovery and development. While most of the speakers focused on more common CNS disorders such as Alzheimer’s disease and neuropsychiatric disorders, there stands to be important lessons that can be translated into the rare disease field. Here is what we learned about the clinical utility of biomarkers and their potential as we move towards precision medicine in rare disease.