> Toward that end, bringing more computer science and computer scientists into medicine is one of my goals
Besides donating to the appropriate organizations, do you have suggestions for if/how software engineers can contribute to this cause? Are there open source projects in need of contributors or notable organizations that one could work for? Perhaps even a way for technical folks with biology backgrounds to get in touch with and help non-technical families navigate all the jargon?
It's an open source logical reasoning engine (read: 1960's AI) for drug repurposing that we deploy routinely to help patients.
There is always a need for better relationalization of biological data sets that feed such tools too.
For example, SemMedDB is really showing its age for NLP of the scientific literature and yet it is still astonishingly useful for helping patients even as is.
> Besides donating to the appropriate organizations, do you have suggestions for if/how software engineers can contribute to this cause?
There's a massive amount of stuff that CS people can do. For example, many protein features (signal peptides, GPI anchors, transmembrane domains, glycosylation sites, phosphorylation sites, E/R retention signals, etc.) can be modeled as formal languages or as probabilistic formal languages. Literally, that's what they are, amino acid codes.
In order to help people with rare diseases, it is very important to identify which variant is knocking off one of those features. In most cases, that's the cause. For example, haemophilia (which is the archetypal rare disease) arises due to a mutation that abolishes a signal peptide in either Factor VIII or Factor IX. Furthermore, it has to be done as quickly and as automatically as possible. Otherwise, it doesn't scale.
Most research funding agencies are sadly quite uninterested in rare diseases.
> Toward that end, bringing more computer science and computer scientists into medicine is one of my goals
Besides donating to the appropriate organizations, do you have suggestions for if/how software engineers can contribute to this cause? Are there open source projects in need of contributors or notable organizations that one could work for? Perhaps even a way for technical folks with biology backgrounds to get in touch with and help non-technical families navigate all the jargon?