RARE DISEASES : FROM DIAGNOSIS TO NEW HOPE - A/PROF STACEY TAY | SNT EP. 21
Med Talk Singapore
388 views
Rare diseases are not truly rare, but why can they take years to diagnose?
In this episode of MedTalk Singapore, A/Prof Stacey Tay explains how genetic testing, AI and gene therapy are changing the way rare diseases are diagnosed and treated.
From early diagnosis and genetic screening to new treatments and clinical trials, discover why there is more hope for children living with rare diseases today.
TIMESTAMPS:
00:00 Intro
00:50 Guest Introduction
02:00 Rare Diseases Are Not Truly Rare
05:45 How Genetic Testing Is Changing Rare Disease Diagnosis
09:51 Why Rare Diseases Can Take Years to Diagnose
12:27 Can AI Help Find Rare Genetic Diseases?
16:24 Developmental Red Flags Parents Should Watch For
20:44 Should Couples Consider Genetic Carrier Screening?
24:03 How Has Treatment for Rare Diseases Changed?
28:55 What Are Clinical Trials?
37:08 Myth or Fact
40:39 Closing
Guest: A/Prof Stacey Tay
Head of Division & Senior Consultant, Division of Paediatric Neurology;
Senior Consultant, Division of Genetics and Metabolism;
Department of Paediatrics, Khoo Teck Puat–National University Children’s Medical Institute, National University Hospital.
#MedTalkSingapore #RareDiseases #GeneticDiseases #GeneticTesting #PaediatricNeurology #ClinicalTrials #GeneticScreening #ChildHealth #HealthcareSingapore
⚠️ Disclaimer: This video is for informational purposes only. It is not intended to diagnose, treat, or replace professional medical advice. Always consult a healthcare provider regarding your condition.
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RARE DISEASES : FROM DIAGNOSIS TO NEW HOPE - A/PROF STACEY TAY | SNT EP. 21
Med Talk Singapore
388 views
Rare diseases are not truly rare, but why can they take years to diagnose?
In this episode of MedTalk Singapore, A/Prof Stacey Tay explains how genetic testing, AI and gene therapy are changing the way rare diseases are diagnosed and treated.
From early diagnosis and genetic screening to new treatments and clinical trials, discover why there is more hope for children living with rare diseases today.
TIMESTAMPS:
00:00 Intro
00:50 Guest Introduction
02:00 Rare Diseases Are Not Truly Rare
05:45 How Genetic Testing Is Changing Rare Disease Diagnosis
09:51 Why Rare Diseases Can Take Years to Diagnose
12:27 Can AI Help Find Rare Genetic Diseases?
16:24 Developmental Red Flags Parents Should Watch For
20:44 Should Couples Consider Genetic Carrier Screening?
24:03 How Has Treatment for Rare Diseases Changed?
28:55 What Are Clinical Trials?
37:08 Myth or Fact
40:39 Closing
Guest: A/Prof Stacey Tay
Head of Division & Senior Consultant, Division of Paediatric Neurology;
Senior Consultant, Division of Genetics and Metabolism;
Department of Paediatrics, Khoo Teck Puat–National University Children’s Medical Institute, National University Hospital.
#MedTalkSingapore #RareDiseases #GeneticDiseases #GeneticTesting #PaediatricNeurology #ClinicalTrials #GeneticScreening #ChildHealth #HealthcareSingapore
⚠️ Disclaimer: This video is for informational purposes only. It is not intended to diagnose, treat, or replace professional medical advice. Always consult a healthcare provider regarding your condition.