Skip to main content

Alina Esterhuizen

Researcher

May 28, 2026

12:30
Yeah
12:30
...
12:30
in, in that, uh, you know, what we, uh, the, the genetic, uh, technologies and, and medical technology has changed, uh, dramatically.
12:39
So we're able to access technologies that are able to give you a tremendous amount of, um, information.
12:45
So, you know, in the past, diagnostic laboratories would focus on very specific genetic testing, where you'd be looking for something that's kind of known, either a particular mutation or, or, or a disorder that was monogenic, where you would test for variants in a s- in one gene.
13:02
Um, a- and this is part of the reason why we've actually stopped talking about mutations and polymorphism-

31 MINS LATER

44:12
Yeah
44:12
... uh, we are now able to really link up a gene with a particular clinical pic- So with, you know, with the epilepsy, you would think that, well, epilepsy or seizures, seizure, seizures, seizure, if a child has a se- But, you know, the clinical presentation can really be quite complex, and there are su- very nuanced type of, uh, clinical, uh, uh, features that link up with a particular gene and a particular syndrome.

We value your privacy

We use cookies to understand how you use our platform and to improve your experience. Click “Accept All” to consent, or “Decline non-essential” to opt out of non-essential cookies. Read our Privacy Policy.