Rare genetic conditions could be diagnosed within minutes with new technology
New software developed by a Cambridge-based company could help diagnose life-limiting conditions in children in minutes rather than years, scientists have said.
Rare genetic conditions in children can currently take up to five years to identify correctly, or cannot be diagnosed at all, according to researchers who hope to shrink the waiting times with new technology and analytical tools.
The software, developed by Congenica, is bound to speed up the process by examining the entire genome sequence to find mutations rather than examining each gene in turn.
According to Phil Beales, honorary consultant in clinical genetics at Great Ormond Street Hospital (Gosh) and clinical director of Congenica, genome sequenced-based approaches are transforming the treatment and diagnosis of genetic conditions.
Currently trailed by the NHS, the Sapientia system is expected to be used for the first time across the UK early next year, before being introduced globally.
Tom Weaver, chief executive of Congenica, said that currently only one in 20 patients gets a correct diagnosis, but this is now expected to surge to 50 per cent.
“We need to keep pushing the technology to bridge that other 50 per cent but I strongly believe that will come from acquiring more data not only in the NHS and the UK but globally,” said Weaver.
The software was built on the backbone of Dr Richard Dublin’s work who developed techniques to identify, annotate and interpret genome DNA sequence data. The aggregated clinical information about the patient now includes gene mutation specifics and background facts about similar symptoms in other patients.
The Latest on: Genome sequencing
via Google News
The Latest on: Genome sequencing
- The Pseudomonas aeruginosa whole genome sequence: A 20th anniversary celebration.on November 28, 2021 at 10:09 pm
Toward the end of August 2000, the 6.3 Mbp whole genome sequence of Pseudomonas aeruginosa strain PAO1 was published. With 5570 open reading frames (ORFs), PAO1 had the largest microbial genome ...
- Maharashtra: Thane old age home COVID-19 patients stable; 15 samples sent for genome sequencingon November 28, 2021 at 10:06 pm
Four of them were kept in the hospital's Intensive Care Unit (ICU) with oxygen support and they were also stable, civil surgeon Dr Kailas Pawar said.
- Thane old age home Covid patients stable; 15 samples sent for genome sequencing: Officialon November 28, 2021 at 10:03 pm
Four of them were kept in the hospital's Intensive Care Unit with oxygen support and they were also stable, civil surgeon Dr Kailas Pawar said.
- Thane: Dombivali resident tests COVID-19 positive after returning from South Africa; samples will be sent for genome sequencingon November 28, 2021 at 7:12 pm
The man had travelled from Cape Town to Dombivali on4. "He underwent a COVID-19 test which returned positive," the official added. The man didn't come in contact with anyone after returning from South ...
- Nashik collector for genome sequencing of foreign flierson November 28, 2021 at 6:34 pm
District collector Suraj Mandhare has stressed on the need for genome sequencing of people flying in to the district from foreign destinations and th ...
- Maharashtra: A South Africa returnee tests positive for COVID; samples will be sent for genome sequencingon November 28, 2021 at 1:57 pm
A person who returned from South Africa to Dombivli has been tested positive for COVID-19 on Sunday said the Kalyan Dombivli Municipal Corporation KDMC ...
- Genome Sequencing Used to Monitor COVID-19 Variants in Eastern Mediterranean Regionon November 28, 2021 at 5:45 am
Fourteen out of 22 countries in WHO’s Region for the Eastern Mediterranean use genome sequencing to detect and monitor coronavirus variants of concern in order to understand the evolution and genomic ...
- Omicron threat: Test international travellers, focus on genome sequencing, Centre tells stateson November 28, 2021 at 2:03 am
The Health Ministry has also asked the states to ensure continuous monitoring of hotspots, which are areas where a recent cluster of positive cases have emerged.
- Genome sequencing of VIMSAR infectees to track new varianton November 27, 2021 at 11:26 pm
With the Veer Surendra Sai Institute of Medical Sciences and Research (VIMSAR) in Burla becoming a COVID-19 cluster, the authorities of the premiere health facility in western Odisha have decided to ...
- The UK Government Wants to Sequence Your Baby’s Genomeon November 25, 2021 at 4:00 am
Genomics England plans to test out a program that will offer whole genome sequencing to newborns—opening up a Pandora’s box of ethical concerns.
via Bing News
