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Pompe Disease News, Research and Latest Updates

Keep abreast with the latest news related to Pompe Disease there are 80 news items on Pompe Disease that covers updates, breakthroughs and in-depth reports.

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Pompe Disease

Pompe disease or Glycogen Storage Disease is a rare genetic disease caused by the buildup of a sugar called glycogen in the body’s cells. It is caused by the deficiency or absence of the enzyme alpha-glucosidase.

Identifying Genetic Disease in Record Time

Identifying Genetic Disease in Record Time

An effective method of exome-sequencing has the potential to help researchers identify genetic diseases in record time.

Expert Finds Rare Genetic Disease Common in Faroe Islands

Expert Finds Rare Genetic Disease Common in Faroe Islands

A defective gene at the origin of a rare disease that can cause sudden cardiac arrest is carried by one out of 200 in the Faroe Islands.

Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

University of Florida researchers are hopeful that gene therapy will help patients in the late stages of Pompe disease breathe on their own.

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Enzyme Replacement Therapy for Fabry Disease may be Improved by Inventive Approach

Enzyme Replacement Therapy for Fabry Disease may be Improved by Inventive Approach

A creative structure-based remodeling strategy to design a therapeutic protein for Fabry disease has been used in a new study

Mechanism That Triggers Onset Of Genetic Diseases Identified

Mechanism That Triggers Onset Of Genetic Diseases Identified

Universitat Autonoma de Barcelona (UAB) scientists have identified a mechanism that could trigger onset of various genetic diseases.

Individuals With Family History Of Genetic Disease At Risk Of Discrimination

Individuals With Family History Of Genetic Disease At Risk Of Discrimination

People with a family history of genetic disease are often discriminated against by insurance companies and their relatives and friends, according to research published on bmj.com today.

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Deadly Muscle Disease may Originate in the Nervous System

Deadly Muscle Disease may Originate in the Nervous System

A severe form of muscular dystrophy in children known as Pompe disease could originate in the brain and not muscles

Scientist Have Developed Novel Treatment For Genetic Diseases Including Cystic Fibrosis

Scientist Have Developed Novel Treatment For Genetic Diseases Including Cystic Fibrosis

Technion-Israel Institute of Technology researchers have developed a novel antibiotic treatment for human genetic diseases, including cystic fibrosis (CF).

Curing of Genetic Diseases May Take Much Longer Than Expected

Curing of Genetic Diseases May Take Much Longer Than Expected

A research team says that curing many genetic diseases will take much longer than expected, as understanding how mutations in the genetic code lead to these diseases will be much more

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Test to Detect Genetic Diseases in Unborn Children Developed

Test to Detect Genetic Diseases in Unborn Children Developed

British scientists have developed a revolutionary universal test that can enable prospective parents to screen embryos to detect almost any genetic disease in unborn children.

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Alglucosidase

Alglucosidase is an enzyme replacement therapy used for treating Pompe disease, a rare metabolic disorder that damages the muscles and nerves caused due to the accumulation of glycogen in the lysosome. This medication is a glycoprotein, ...

Deadly Muscle Disease may Originate in the Nervous System

Deadly Muscle Disease may Originate in the Nervous System

A severe form of muscular dystrophy in children known as Pompe disease could originate in the brain and not muscles

Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

Extraordinary Measures to Tackle Pompe Disease Continue to be Taken by UF Researchers

University of Florida researchers are hopeful that gene therapy will help patients in the late stages of Pompe disease breathe on their own.