Navigation Links
New gene test offers personalized treatment for inherited neuromuscular disorder

The gene, GFPT1, has been identified by researchers at Newcastle University working with international colleagues, as crucial in causing a variation of Congenital Myasthenic Syndrome (CMS).

The condition came to prominence in recent times in the UK with the plight of baby RB, who was at the centre of a "right-to-life" legal dispute.

CMS is a rare genetic condition affecting the way signals travel between the brain and muscles which can cause paralysis and in some cases death. It affects one in every 500,000 births and the severity of the condition varies, depending on where the fault lies in the complex signals between the nerves and the muscles.

The variation of CMS identified by researchers, GFPT1, tends to develop in the first ten years of life with patients losing muscle strength and control in their hips and shoulders or arms and legs.

"The identification of this gene means that doctors can order genetic analysis and confirm the condition allowing earlier treatment with cholinesterase inhibitors," explained Professor Hanns Lochmller of the Institute of Human Genetics at Newcastle University.

"This offers an effective therapy which can be taken through life," he added.

The research also highlighted a new area to explore for future treatments as GFPT1 is involved in initiating the metabolism of amino sugar.

The international team, headed up by Dr. Jan Senderek from the University of Aachen in Germany and by Dr Juliane Mller from Newcastle University, analysed the genes of 13 families affected by the condition.


Contact: Hanns Lochmuller
Newcastle University

Page: 1

Related biology news :

1. Worm genome offers clues to evolution of parasitism
2. Advance offers revolution in food safety testing
3. Light pollution offers new global measure of coral reef health
4. Rong Li Lab offers insight into adaptive ability of cells
5. International public-private partnership offers new paradigm for medicinal chemistry
6. UC Davis discovery offers hope for treating kidney cancer
7. New paper offers key insights into how new species emerge
8. Study offers clues to beating hearing loss
9. Fighting global warming offers growth and development opportunities
10. Brown-led team offers first look at how bats land
11. Star Trek-like technology offers noninvasive monitor for patients and athletes
Post Your Comments:
(Date:11/4/2015)... 4, 2015 --> ... published by Transparency Market Research "Home Security Solutions Market - ... 2015 - 2022", the global home security solutions market is expected ... 2022. The market is estimated to expand at a ... to 2022. Rising security needs among customers at homes, ...
(Date:10/29/2015)... 2015  Rubicon Genomics, Inc., today announced an ... its DNA library preparation products, including the ThruPLEX ... Plasma-seq kit. ThruPLEX Plasma-seq has been optimized for ... libraries for liquid biopsies--the analysis of cell-free circulating ... in cancer and other conditions. Eurofins Scientific is ...
(Date:10/27/2015)... Germany , October 27, 2015 ... SMI,s Automated Semantic Gaze Mapping technology (ASGM) automatically maps ... SMI,s Eye Tracking Glasses , so that they ... BeGaze. --> Munich, Germany , ... (ASGM) automatically maps data from mobile eye tracking videos ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... 26, 2015 --> ... 2016 - 2020 report analyzes that automating biobanking ... quality in long-term samples, minimizing manual errors, improving ... minimizes manual errors such as mislabeling or inaccurate ... it plays a vital role in blood fractionation, ...
(Date:11/25/2015)... HOLLISTON, Mass. , Nov. 25, 2015 ... HART ), a biotechnology company developing bioengineered organ implants ... McGorry will present at the LD Micro "Main ... 2:30 p.m. PT. The presentation will be webcast live ... Management will also be available at the conference for ...
(Date:11/25/2015)... Orexigen® Therapeutics, Inc. (Nasdaq: OREX ) ... chat discussion at the Piper Jaffray 27th Annual Healthcare ... discussion is scheduled for Wednesday, December 2, at 8:00 ... replay will be available for 14 days after the ... NormartVP, Corporate Communications and Business Development , BrewLife(858) 875-8629 ...
(Date:11/24/2015)... , ... November 24, 2015 , ... The United States ... of the 2016 USGA Green Section Award. Presented annually since 1961, the USGA Green ... or her work with turfgrass. , Clarke, of Iselin, N.J., is an ...
Breaking Biology Technology: