Navigation Links
Progressive Genetic Diseases Can Be Detected By A Simple Blood Test

Scientists of University of Washington in Seattle have devised a simple blood test, which can be used to detect rare disorders of progressive genetic diseases known // as 'lysosomal storage disorders', according to online edition of Nature.

These disorders can cause symptoms ranging from gross enlargement of the liver to mental retardation. Some 40-50 of the disorders are known, and in total they affect one in 5,000 people. Gaucher disease, one of the more common afflictions, affects a little more than one in 1,000 Ashkenazi Jews.

The researchers say their screening method can now detect seven of these diseases. Cambridge-based company Genzyme, which sells treatments for three of the diseases, hopes to see the screen made a routine part of newborn testing.

Lysosomes are small compartments within cells that help to recycle waste cellular material within the body. Enzymes within the lysosomes do this job by breaking up waste materials into smaller pieces.

If one of these enzymes is not functioning, usually because of a problem in the gene that codes for it, then the breakdown stops and half-digested matter clogs up the cell with disastrous consequences.

Newborn babies with these diseases can be healthy, because there has been little time for this material to build up. Blood tests are available for cases where lysosomal diseases are suspected.

But doctors are keen to find a way to diagnose the disorders before problems begin so that treatment, if it exists for the specific condition, can start early.

'Once you get damage, there is no way back,' say Turecek. 'Either you get going on treatment early, or you can die. And it is not a good death.'

The methodology by them isn't very complicated and should be quite cheap, researchers said. The group estimates that a single machine should be able to process 85,000 screenings a year.

This would be enough to cover the state of Washin gton, for example. A screening which could look for up to 20 different enzymes at a time should cost as little as five cents after the purchase of a suitable mass spectrometer, they say.

--Edited IANS

Related medicine news :

1. Mammograms Detect Non Progressive Cancer
2. Vermont Witness To A Progressive Health-Insurance Law
3. China Takes a Progressive Step Towards AIDS Prevention
4. Genetic Dentistry: Your Dentist may be able to grow you a new set of Teeth.
5. Genetic influence in menopause
6. Genetics and cholesterol levels
7. Genetics helps in attacking cancer
8. Genetic disorder related with sleep patterns
9. Genetic innovation
10. Genetic tests for cancer
11. Genetic indicates memory
Post Your Comments:

(Date:10/13/2017)... Nevada (PRWEB) , ... October 13, 2017 , ... ... Hemp CBD Oil utilizing Purzorb™ technology. Applying the Purzorb™process to full spectrum CBD oil ... required and providing a CBD form that can be easily incorporated into liquid products, ...
(Date:10/13/2017)... ... ... The Visiting Nurse Association (VNA) of Somerset Hills is proud to host ... items from across the nation, this holiday-themed event will raise funds and awareness for ... The boutique will be open Saturday, November 4 (10:00 a.m. – 5:00 p.m.) ...
(Date:10/13/2017)... ... October 13, 2017 , ... Coveros, a leader ... been awarded a contract by the Center for Medicare and Medicaid Services (CMS). ... the enterprise use of Agile methodologies in a consistent and high value manner ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... Planet Fitness, ... the U.S., announced today its plans to open a flagship location in Covington, LA ... the former Rooms To Go store next to Office Depot in the Holiday Square ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... that we intend to develop to enable prevention of a major side effect ... hearing loss, especially in pediatric patients. For cisplatin, hearing loss is FDA listed ...
Breaking Medicine News(10 mins):
(Date:10/12/2017)... 2017   Divoti USA will engrave and ... standard of the latest FDA requirements, which stipulates new criteria regarding ... in need of Medical ID jewelry such as Medical ID Bracelets, ... engraved in terms of the new FDA requirements . ... Divoti offers this dark mark fiber ...
(Date:10/11/2017)... Calif. , Oct. 11, 2017  BioPharmX Corporation ... scientific team that developed an innovative way to use ... of the delivery of new drugs. ... Fall Clinical Dermatology Conference will show how researchers from ... Hospital, Harvard Medical School used a suite of imaging ...
(Date:10/11/2017)... , Oct. 11, 2017  True Health, a ... amplified its effort during National Breast Cancer Awareness ... cancer risks. ... Oncology calculated that more than 10 million American ... mutations in BRCA1 or BRCA2 and have not had ...
Breaking Medicine Technology: