Grand Rounds: Clinical Genetics: Diagnosis, Advances, & Current Challenges

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The opening of this shiur, in JOWMA’s own words — taken from the captions, so names and Hebrew terms may be approximate.

great hi everyone thank you for coming to tonight's Grand rounds with Dr tashish if anyone has any questions throughout the talk at all um please just write them in the Q a box at the bottom of your screens and then we'll get to them at the end of The Talk so now I'd like to introduce our speaker tarshisha is a board-certified medical geneticist she completed a preliminary year in Internal Medicine and then completed a residency In Obstetrics and Gynecology after working In Obstetrics and Gynecology for a short time she then completed a residency in medical genetics at Emory University after practicing full-time as a clinical geneticist at the University of Miami for a few years she began working as a medical director for the laboratory division of evacore Healthcare in addition to working forever course she worked part-time as a clinical geneticist for Nicholas children's hospital until her recent move to Atlanta she has published articles in peer-reviewed journals in the fields of medical genetics and with that take it away Dr tarshish thank you um so I'm going to talk today about clinical genetics diagnosis advances and current challenges um let me just Advance this so just a quick outline of the presentation I'm going to talk for a little bit about some diagnostic testing the evolution of it and some advances chromosomal tests and tests for single Gene disorders a little bit about metabolic disorders in the role of newborn screening some principles of inborn Errors of metabolism in the newborn screening process as it actually practically works some current and upcoming Therapies in

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1. 0:02great hi everyone thank you for coming to tonight's Grand rounds with Dr tashish if anyone…
2. 4:58necessarily on karyotic type um you the control the control patient is another male and they're…
3. 10:11referring to exonic DNA to exons the coding portions and these constitute only about a one…
4. 14:52incredibly neurotoxic tyrosine doesn't get made um so that becomes goes from being a non-essential amino…
5. 20:10versus physically affected so it's worthwhile but it's not perfect substrate reduction therapy um like sir…
6. 25:29product um this becomes mature mRNA and because everything's fitting together you get dystrophin you get…
7. 30:19which is over 90 percent of CF patients in the U.S brain therapy um it's a…
8. 35:49after treatment iron stores and chelation therapies which would be the standard of care along with…
9. 40:39um transplant is still considered first line treatment and that's been around but not all boys…
10. 46:06viral vectors um it's only the the first or the second one using crispr or cast…

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