Why is the Diagnosis of Rare Diseases So Elusive?
In the heart of Romania, nestled within the scientific hub of Craiova, a state-of-the-art laboratory is aiming to unravel the mysteries of rare diseases.
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00:00 Researchers at this lab in Craiova, Romania, use state-of-the-art medical equipment for
00:06 the early diagnosis of rare diseases.
00:09 But early, accurate diagnostics prove often difficult.
00:13 Some of those rare diseases need years of research.
00:17 We asked medical geneticists here why the diagnosis of rare diseases is so elusive.
00:25 Why is a big question in medicine.
00:27 There's the why the patients have when dealt with an unknown disease.
00:32 There's the why the geneticists are dealing with when it comes to what is the molecular
00:38 underlying mechanism behind that disease.
00:41 We're benefiting today from the progress that society has made so far.
00:46 And we have understood the genome in the terms that we have been able to read it.
00:51 And we started deciphering those regions in the genome that deal with coding proteins.
00:56 And we are made up of proteins.
00:58 So if something goes wrong with the code, something goes wrong with the protein, something
01:02 goes wrong and a disease appears.
01:04 And in this flow, it's easily understandable that we haven't yet deciphered everything.
01:10 There's regions in the genome we do not know about.
01:12 There's genes that we do not know how they impact health.
01:16 And in that sense, we are learning.
01:19 And we are coming back to what we've sequenced and reanalyzing the data with new eyes.
01:26 And I think that's another beauty of genetics, blended somehow with the advancement in technology
01:34 and using AIs and digitalization.
01:37 That's the benefit of our specialty and to the patient ultimately.
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