Updates

May 26, 2020May 26, 2020
What Is Genetic Counseling and Why Is It Important in Pompe Disease?

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future ... Read more
May 25, 2020May 25, 2020
Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 ... Read more
May 22, 2020May 22, 2020
Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, ... Read more
May 21, 2020May 21, 2020
Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

A moss-derived type of enzyme replacement therapy (ERT) for Pompe disease may be more effective than the currently approved ERT in targeting muscle cells, according ... Read more
May 18, 2020May 18, 2020
Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together ... Read more

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May 2, 2018May 2, 2018

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

News

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was ... Read more

Updates

What Is Genetic Counseling and Why Is It Important in Pompe Disease?

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Subscribe to our mailing list

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

The Pompe Disease Registry and How It Can Help Your Child

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

What to Expect from Physiotherapy When You Have Pompe Disease

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

What’s an IEP, and How Can It Help Children with Pompe Disease?

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

Pompe Disease and Pregnancy

Two New GAA Mutations Linked to Stroke in Late-onset Pompe Disease, Study Finds

NORD’s Advice on COVID-19: You’re Stronger Than You Think

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

I Have Pompe Disease; Will I Pass It to My Children?

Ultrasound May Help Assess Diaphragm Dysfunction in LOPD Patients

Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

Small Molecule Improves Muscle, Heart Defects in New Zebrafish Model, Study Finds

Better Newborn Screening Needed for Pompe, Could Improve Prognosis, Report Says

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

Albuterol With ERT Improves Lung, Motor Function in LOPD Patients, Phase 1/2 Trial Shows

Elsevier Opens Books, Review Articles to Rare Disease Researchers Starting Feb. 29

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

What Is Genetic Counseling and Why Is It Important in Pompe Disease?

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Plant-based ERT May Hold Promise in Pompe Disease, Small Study Suggests

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

Subscribe to our mailing list

Urinary Levels of Glc4 Abnormally High in Pompe Patients, Turkish Study Finds

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

The Pompe Disease Registry and How It Can Help Your Child

Raising Awareness of Late-onset Pompe Crucial to Fight Diagnosis Delay, Study Says

What to Expect from Physiotherapy When You Have Pompe Disease

NORD Webinar Outlines COVID-19 Response on Financial, Policy Fronts

Industry leaders seek to advance innovative resources for rare and orphan disease communities amid COVID-19 outbreak

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

What’s an IEP, and How Can It Help Children with Pompe Disease?

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Muscle MRI Reveals Deterioration in Late-onset Pompe Patients, Study Says

Pompe Disease and Pregnancy

Two New GAA Mutations Linked to Stroke in Late-onset Pompe Disease, Study Finds

NORD’s Advice on COVID-19: You’re Stronger Than You Think

NORD Partners with ‘Sing Me a Story’ for July 18–20 Living Rare Forum

I Have Pompe Disease; Will I Pass It to My Children?

Ultrasound May Help Assess Diaphragm Dysfunction in LOPD Patients

Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

Small Molecule Improves Muscle, Heart Defects in New Zebrafish Model, Study Finds

Better Newborn Screening Needed for Pompe, Could Improve Prognosis, Report Says

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

Albuterol With ERT Improves Lung, Motor Function in LOPD Patients, Phase 1/2 Trial Shows

Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare

Elsevier Opens Books, Review Articles to Rare Disease Researchers Starting Feb. 29

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports