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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Rapid Targeted Genomics in Critically Ill Newborns.

Cleo C van Diemen1, Wilhelmina S Kerstjens-Frederikse2, Klasien A Bergman3

  • 1Department of Genetics, University of Groningen; and c.c.van.diemen@umcg.nl.

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Summary
This summary is machine-generated.

Rapid targeted genomic sequencing diagnosed genetic disorders in 30% of critically ill infants. This approach offers a faster alternative to traditional testing for rare disease diagnosis in neonatal and pediatric intensive care units.

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Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Pediatric Critical Care

Background:

  • Whole-genome sequencing (WGS) is explored for critically ill newborns to expedite diagnosis and replace lengthy or invasive tests.
  • Previous research showed 57% diagnostic success in highly selected patients with known or suspected Mendelian disorders.
  • This prospective study aimed to evaluate the speed and diagnostic yield of rapid targeted genomic analysis in a clinical setting.

Purpose of the Study:

  • To assess the clinical utility of rapid targeted genomic sequencing in critically ill infants.
  • To determine the diagnostic yield and turnaround time of this genomic approach.
  • To evaluate the impact of genomic diagnostics on clinical decision-making for undiagnosed infants.

Main Methods:

  • Prospective study of 23 critically ill infants (<12 months) in intensive care units over 2 years.
  • Targeted analysis of 3426 known disease genes using whole-genome sequencing data.
  • Measurement of diagnostic yield, turnaround times, and clinical consequences.

Main Results:

  • A genetic diagnosis was achieved in 7 patients (30% diagnostic yield).
  • Median turnaround time for diagnosis was 12 days (range: 5–23 days).
  • Identified mutations included compound heterozygous in EPG5, RMND1, EIF2B5, and homozygous in KLHL41, GFER, GLB1, plus a 1p36.33p36.32 microdeletion.

Conclusions:

  • Rapid targeted genomics combined with copy number variant detection provides significant value in neonatal and pediatric intensive care.
  • This genomic approach enabled rapid diagnosis in 30% of critically ill children unresponsive to standard clinical workup.
  • Genomic diagnostics can accelerate the diagnostic odyssey for critically ill infants with suspected genetic disorders.