Showing posts with label England. Show all posts
Showing posts with label England. Show all posts

Friday, April 25, 2025

England Begins Screening over 100,000 Newborns For Over 200 Rare Diseases

Deadly diseases such as metachromatic leukodystrophy(MLD) have long tragically cut the lives of children short or cause them to live with significant disability or pain. A new study by Genomics England called "The Generation Study" aims to help make diseases like these a thing of the past, or at the very least help new parents prepare and properly treat their child. The study will require something which was previously a nationwide pursuit, sequencing the child's entire genome.

The logo for Genomics England, the group behind the study

The test involves taking blood from the infant and using its genome to screen for over 200 rare diseases where early treatment is available. Each genome will not only help its respective child and family, but also help others by providing a genomic reference for the database if the child does develop a critical condition. Some childhood conditions are time-sensitive, and require an early diagnosis to prevent permanent damage from being done. Being able to diagnose a child early or alert the parents of potential future symptoms of a possible disease will be critical to ensure more children are able to live healthy, full lives.

Sources: 

https://www.bbc.com/news/articles/cnvqyeyqn4do

https://www.genomicsengland.co.uk/news/first-newborn-babies-tested-for-over-200-genetic-conditions-as-world-leading-study-begins-in-nhs-hospitals

Saturday, March 2, 2013

DNA Proves King Richard III has Finally Been Unearthed

According to the New York Times, DNA results have finally come back to prove that the remains found beneath a parking lot in Leicester, England are indeed those of the lost King Richard III.

On August 22nd 1485, King Richard III's death on the battlefield finally put to end the War of the Roses--a civil war that violently tore apart England for generations.  Richard came to the throne shortly before his death, following the disappearances of his two young nephews, who were next in line to the throne after his older brother's death.  Because Richard was one of the main suspects in the children's disappearances, he was a very reviled king with a bad reputation.  This could be one of the reasons he was buried so quickly on the battlefield and left in an unmarked grave with no recognition showing that he once ruled over the country.  For almost 500 years, the whereabouts of King Richard III's body were unknown.

His shallow grave was found underneath a parking lot back in September and the bones were put through rigorous DNA testing by very anxious scholars.  The team's leading geneticist was able to take DNA samples from two modern-day descendants of Richard III and compare them to the DNA found in Richard's remains.  The extremely rare mitochondrial DNA that is carried by only 1 to 2 percent of the English population matched the remains found in the shallow grave.  Scholars believe that unearthing the remains of King Richard III gives him not only the respect of a proper burial, but also puts his story to light and gives scholars the opportunity to clear the name of a man who was vilified by his Tudor successors.