Catherine Brownstein: OpenAI o1 & Genetics

it's impossible to be an expert in every single Gene there's 20,000 genes like you can't keep everything straight but AI can my name is Katherine Brownstein I'm a geneticist here at Boston Children's Hospital I'm also scientific director of the man Center for Orphan disease research I deal with the N of One cases where no one has seen that presentation before patients don't know what's going on they're really medical refugees in some way it's like Wing walking like you're seeing things and you're seeing genetic things you're seeing phenotypic things and you're trying to connect them and none of it's been seen before but like you think you are the only one in the world but really sometimes there's a whole Community they just haven't come together yet when before I would look up an article

and then look up another article chat with reasoning is so much easier to use it's just a quick prompt to summarize it for me and then summarize this part for me I it's just way way faster this is a case of excreting pain

in their bladder we can't figure out why so I can go here and say can you tell me about the trait and it shows it tells me that it is a expressed in the bladder and it could potentially be related to bladder health so the decrease trait synthes activity oh this is really smart because I don't know from this variant if it's like knocking down activity or causing too much activity it's actually really hard to figure that out sometimes um and so it gives both options so I can um think about both P ways that it could be going that's actually really cool I go down a lot of rabbit Hol

that do not yield anything useful and being able to increase the percentage of rabbit hole to useful information is killer there's a level of obsession that all of us have I think we also have the cases that keep us up at night where you know we really can't figure out why we can't figure it out no case is ever closed