RT @kuntal_sen_
New publication reviewing a rare but treatable cause of recurrent strokes in children. A high index of suspicion is crucial to diagnose ADA2 deficiency. http://pubmed.ncbi.nlm.nih.gov/36933276/ @CNMCNeurology @DanaHarrar @ChildNeuroSoc @pedneurojournal #stroke #inbornerrorsofmetabolism

#introduction post: I'm a #GeneticCounselor with particular interest in #InbornErrorsOfMetabolism and #NewbornScreening. I think #methylation #mitochondria #science and watching #curling = fun.
I spend a lot of my free time baking things like cakes.
Getting to know this place and appreciated the starship analogy that I saw. Making my home base here on med-mastodon and like to visit genomic.social to get my #genomics fix. 🧬🚲😷🖖🏻

As a #scientist and clinician in training, it's important to me that my research is based on questions that patients care about. To answer them, I love getting into #BasicScience, but because of the #PatientCentred / #PatientDriven approach it retains a #translational quality. I also make a point of collaborating with #PatientAssociations on as many projects as possible.

I work in the field of #InbornErrorsOfMetabolism and therefore #RareDisease. That adds a layer of advocacy to our research.