Seqanswers Leaderboard Ad

Collapse

Announcement

Collapse
No announcement yet.
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • Identifying Genetic Diseases at Birth with Genome Sequencing

    Genomics England is launching a new research study, Newborn Genomes Programme, designed to sequence babies’ genomes at birth. England’s National Health Service (NHS) already offers blood screening tests for newborns to detect a limited number of conditions, but many disorders aren’t included in these tests. This program is designed to assess whether genomic sequencing of newborns will speed up diagnosis, save money through early intervention, and increase access to treatments for genetic conditions.

    The plan is to sequence over 100,000 infants’ genomes and analyze the data by screening for various genetic conditions. The search will be limited to conditions that occur during early childhood and are currently actionable, meaning there are available treatments. Newborns with detected and actionable conditions will then receive the necessary care from the NHS.

    Additional focus will be placed on understanding the clinical benefits of storing genomic information throughout an individual’s lifetime. After initial analysis, the newborn’s sequencing data will be stored away and potentially reanalyzed to understand future problems, such as cancer treatments.

    Parents of the newborns may also consent to have their babies’ genome de-identified and added to England’s National Genomic Research Library. Healthcare researchers will use this information to better understand various diseases and potential treatments.

    While the NHS is the only institution with this extensive program in place, there are hopes that successful results will encourage other organizations to implement similar testing requirements.

Latest Articles

Collapse

  • seqadmin
    Essential Discoveries and Tools in Epitranscriptomics
    by seqadmin




    The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...
    04-22-2024, 07:01 AM
  • seqadmin
    Current Approaches to Protein Sequencing
    by seqadmin


    Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained...
    04-04-2024, 04:25 PM

ad_right_rmr

Collapse

News

Collapse

Topics Statistics Last Post
Started by seqadmin, Today, 08:47 AM
0 responses
10 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-11-2024, 12:08 PM
0 responses
60 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-10-2024, 10:19 PM
0 responses
57 views
0 likes
Last Post seqadmin  
Started by seqadmin, 04-10-2024, 09:21 AM
0 responses
53 views
0 likes
Last Post seqadmin  
Working...
X