Navigation Links
New DNA Tests Advances Treatment of Lysosomal Storage Diseases

A new set of laboratory tests using gene sequencing is able to help confirm 24 lysosomal storage diseases, providing physicians and patients the tools for much more accurate and rapid diagnosis. Lysosomal storage diseases are a group of more than 40 inherited and potentially life-threatening disorders that cause enzymes to malfunction in cellular compartments called lysosomes. This leads to the accumulation of waste products that damage organs and tissues.

The gene sequencing tests, developed by scientists in Emory University's Genetics Laboratory, are available to clinicians throughout the country, and can be used for clinical diagnosis, carrier testing for family members and prenatal testing. Emory Genetics Laboratory offers the most comprehensive list of sequencing tests in the country for lysosomal storage diseases, according to Vanessa Rangel Miller, MS, CGC.

"Before the availability of our tests, there were far fewer sequencing and DNA-based tests for lysosomal storage disorders," she said. "This limited many families who did not have the option for carrier and prenatal testing. In the past, some carrier and prenatal tests were performed using less accurate biochemical methods" according to Madhuri Hegde, PhD, FACMG, co-director, Emory Genetics Laboratory. Emory Genetics Laboratory includes six board certified laboratory directors and four board-certified genetic counselors.

The prevalence of lysosomal storage disorders in the United States is 1 out of 7,000 newborns. Tests for lysosomal storage disorders typically are ordered by general internists, cardiologists, nephrologists, gastroenterologists, geneticists, metabolic specialists and others caring for children and adults suspected of having a lysosomal storage disorder, or by obstetricians or prenatal genetics counselors who have patients with a family history of these disorders.

Physicians in Emory's Lysosomal Storage Disease Center, established in 1993 in the Department of Human Genetics, diagnose, evaluate, and treat patients using a variety of treatment regimens, including the most advanced enzyme replacement technologies, which over the past 15 years have changed the lives of many patients. The Emory center is one of only two centers nationally with an infusion center within a department of genetics. The center combines diagnosis and treatment with laboratory research and clinical trials aimed at learning even more about these inherited diseases.

Lysosomal storage diseases are difficult to identify because symptoms often mimic those of more common diseases, and symptoms may develop very gradually. Patients often visit many physicians before their condition is accurately diagnosed. Early diagnosis is critically important, however, because progressive accumulation of waste material in cells can cause irreversible damage. Some symptoms are considered hallmarks of lysosomal storage diseases. These include unusual facial features, an enlarged tongue, cloudiness in the eyes, a purplish-blue skin rash, distended belly, failure to grow, and muscle weakness or decline in motor skills.

Type I Gaucher disease was the first genetic disorder that could be treated effectively with enzyme replacement therapy (ERT). Over the past decade, ERT has become available for Fabry disease, Mucopolysaccharidosis Type VI (MPS VI - Maroteaux-Lamy), and MPS I (Hurler, Hurler-Scheie, or Scheie syndrome). ERT also is in development for other lysosomal storage conditions including Pompe (also known as glycogen storage disease type II), MPS II (Hunter syndrome), Niemann-Pick Disease, and MPS IV (Morquio syndrome).


'"/>




Related medicine news :

1. The Effectiveness Of Screening Tests Questioned
2. Blood Tests Can Help Detect Osteoporosis Early In Life
3. Easier Tests To Detect Tuberculosis
4. Fragile X-Associated Tremor /Ataxia Syndrome Need Guidelines For Diagnostic Tests
5. Genetic Tests Could Become As Affordable As Blood Tests
6. Obese Adults Undergo Less Medical Tests And More Vulnerable To Diseases
7. Delay in Breast Cancer Gene Tests
8. Health Officials Inquire Into OraQuick HIV Tests
9. Move to make HIV Tests mandatory For Soldiers In Northeast
10. Punjab Government To Clamp Down On Sex Determination Tests
11. Free HIV Tests Brings Crowd to the Testing Centers
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/13/2017)... ... October 13, 2017 , ... Ellevate Network, the leading network for ... for action towards gender equality at their inaugural Summit in New York City in ... reached a social audience of over 3 million. To watch the Mobilize Women video, ...
(Date:10/13/2017)... ... October 13, 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The House ... most popular and least understood books in the Holy Scriptures, Revelation. The Book of ... baffled scholars for centuries. Many have tossed it off as mere rubbish, but Yisrayl ...
(Date:10/13/2017)... ... 2017 , ... Coveros, a leader in agile coaching services ... by the Center for Medicare and Medicaid Services (CMS). The Enterprise Agile Transformation ... Agile methodologies in a consistent and high value manner across CMS programs. Coveros ...
(Date:10/13/2017)... ... ... “America On The Brink”: the Christian history of the United States and the loss ... author, William Nowers. Captain Nowers and his wife, Millie, have six children, ten ... the Navy. Following his career as a naval aviator and carrier pilot, he ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... sleep apnea using cutting-edge Oventus O2Vent technology. As many as 18 ... characterized by frequent cessation in breathing. Oral appliances can offer significant relief to ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... WESTWOOD, Mass. , Oct. 4, 2017  According to the Centers ... by the end of October . PhysicianOne Urgent Care is helping communities ... Westchester, NY , by offering no-cost* flu shots through ... , as mandated by certain health insurance regulations. ... The best time to get a flu shot is by ...
(Date:10/2/2017)... 2017 Diplomat Pharmacy, Inc. (NYSE: ... Consulting, LLC , and named its founder as Diplomat,s ... Tennessee , will operate under Diplomat ... service offerings for health care partners to include IT ... "In an interoperable world, technology delivers comprehensive ...
(Date:10/2/2017)...  AllianceRx Walgreens Prime, the combined central specialty pharmacy ... benefit manager Prime Therapeutics LLC (Prime), today officially began ... unveiling of new signage at its headquarters in ... a few other company-owned facilities across the country. This ... of whom will begin to see the AllianceRx Walgreens ...
Breaking Medicine Technology: