My condolences too. > Besides donating to the appropriate organizations, do you have suggestions for if/how software engineers can contribute to this cause? T

My condolences too. > 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.