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Related Concept Videos

CRISPR01:59

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced Short...
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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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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FISH for Pre-implantation Genetic Diagnosis
07:34

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Published on: February 23, 2011

Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity.

Alban Ziegler1, Wendy K Chung2

  • 1Department of Genetics, University Hospital of Toulouse, Toulouse, France.

Trends in Genetics : TIG
|April 29, 2025
PubMed
Summary

Genome sequencing (GS) shows promise as a first-tier screening tool for newborn screening (NBS), expanding the number of detectable conditions. Pilot studies confirm feasibility but highlight challenges that require infrastructure development.

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Area of Science:

  • Genomics
  • Medical Diagnostics
  • Public Health

Background:

  • Newborn screening (NBS) currently identifies a limited number of congenital disorders.
  • Advances in genome sequencing (GS) technology offer potential for broader screening.

Purpose of the Study:

  • To evaluate the feasibility of using DNA sequencing as a primary screening method for expanding NBS conditions.
  • To identify and address challenges associated with implementing GS in NBS programs.

Main Methods:

  • Review of pilot studies and research evaluating genome sequencing for newborn screening.
  • Analysis of preliminary data on the performance and challenges of GS in NBS.

Main Results:

  • Genome sequencing demonstrates feasibility as a first-tier screening tool for expanding NBS.
  • Pilot studies are identifying key challenges that need to be overcome for widespread implementation.

Conclusions:

  • Preliminary findings support the integration of GS into NBS protocols.
  • Infrastructure development is crucial for addressing the challenges identified in GS-based newborn screening.