HOME >> BIOLOGY >> NEWS
New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy

A new genetic test targeting the most common types of muscular dystrophy--those caused by mutations in the dystrophin gene--is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.

The test was developed by Michael Zwick, PhD, and Madhuri Hegde, PhD, assistant professors in the Department of Human Genetics and the Emory Genetics Laboratory in the Emory University School of Medicine.

Muscular dystrophy includes more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms are seen in infancy or childhood, while others may not appear until middle age or later. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy and primarily affects boys. It is caused by absence of dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers.

According to the National Institute of Neurodegenerative Diseases and Stroke (NINDS), DMD onset is between 3 and 5 years, with rapid progression. Most boys are unable to walk by age 12 and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Becker muscular dystrophy, which is similar to Duchenne but less severe, results from faulty or not enough dystrophin.

As currently implemented the new test, called EmArray Dystrophin, detects 99 percent of mutations in the dystrophin gene including deletions, duplications and point mutations.

The EmArray Dystrophin test uses a new kind of microarray technology that contains the entire sequence of the dystrophin gene, the largest known gene in humans, on a chip the size of a microscope slide. The test initially detects deletions and duplications, then microarray-based resequenc
'"/>

Contact: Holly Korschun
hkorsch@emory.edu
404-727-3990
Emory University
27-Jun-2007


Page: 1 2 3

Related biology news :

1. Diverse genetic abnormalities lead to NF-κB activation in multiple myeloma
2. Does the desire to consume alcohol and tobacco come from our genetic makeup?
3. Almac Diagnostics announces pioneering genetic research on ductal carcinoma in situ
4. Penn researchers discover pathway that eliminates genetic defects in red blood cells
5. Identifying the mechanism behind a genetic susceptibility to type 2 diabetes
6. After a decades-long search, scientists identify new genetic risk factors for multiple sclerosis
7. Discoverer of Sly Syndrome finds way of delivering medicine to fight rare genetic disorder
8. Identified main genetic variants involved in response to HIV
9. Restless legs genetics on the move
10. UK scientists lift lid on genetics of coronary artery disease
11. Global community listens to TAU genetic researcher at EU Conference on Hearing Loss

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:3/29/2017)... March 29, 2017  higi, the health IT company ... North America , today announced a Series ... acquisition of EveryMove. The new investment and acquisition accelerates ... tools to transform population health activities through the collection ... higi collects and secures data today on ...
(Date:3/23/2017)... March 23, 2017 The report "Gesture Recognition and Touchless ... and Geography - Global Forecast to 2022", published by MarketsandMarkets, the market is ... of 29.63% between 2017 and 2022. Continue Reading ... ... ...
(Date:3/20/2017)... , March 20, 2017 At this year,s CeBIT ... -based biometrics manufacturer DERMALOG. The Chancellor came to the DERMALOG stand together ... is this year,s CeBIT partner country. At the largest German biometrics company ... use: fingerprint, face and iris recognition as well as DERMALOG´s multi-biometrics system.   ... ...
Breaking Biology News(10 mins):
(Date:5/23/2017)... ... May 22, 2017 , ... A new ... San Diego, California, this August will feature high-level speakers on quantum devices, graphene ... SPIE Optics and Photonics, the largest multidisciplinary optical sciences meeting in North America, ...
(Date:5/23/2017)... ... May 23, 2017 , ... Energetiq Technology, a world ... facility expansion to accommodate its rapid growth. , The renovations at the company’s ... of the existing areas. The expansion includes, a state-of-the-art engineering facility, and a ...
(Date:5/23/2017)... ... ... Bacterial biofilms, surface adherent communities of bacteria that are encased in a ... and catheter infections to gum disease and the rejection of medical implants. Though ... year, there is currently a paucity of means for preventing their formation or treating ...
(Date:5/23/2017)... ... May 23, 2017 , ... ... to re-engineer their control technology again and again. METTLER TOLEDO has released two ... manufacturers. The videos illustrate how integration of the ACT350 into Siemens and Allen ...
Breaking Biology Technology:
Cached News: