News

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders 08 February 2017

February 3, 2017 The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The...

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New RTI International Program to Offer Free Elective Genetic Testing for North Carolina Newborns 08 February 2017

RESEARCH TRIANGLE PARK, NC A new program offering free elective genetic testing for newborns, developed at RTI International, will become available to North Carolina parents starting in 2018, thanks...

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Review on prenatal and pre-implantation genetic testing 23 December 2016

A review published in Nature Reviews Genetics traces the history of prenatal and preimplantation genetic testing and its developments. It also provides an overview of progress in...

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FDA approves Duchenne Muscular Dystrophy drug after pressure from patient groups 01 November 2016

After contentious months, the Food and Drug Administration (FDA) recently approved the first drug to treat Duchenne muscular dystrophy (DMD). According to some sources this is an...

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Brexit, what does it mean for rare disease patients 24 July 2016

The United Kingdom (UK) has voted to leave the European Union (EU) and is poised to begin the proceedings to invoke Article 50 of the 2007 Lisbon Treaty,...

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Ken Pass Memorial Travel Fund 16 May 2016

In 2015 former ISNS President Dr Ken Pass, after having suffered some years from ALS, passed away. He was most known for his many years of service in...

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The Muscular Dystrophy Coordinating Committee Action Plan for the Muscular Dystrophies 09 May 2016

Muscular Dystrophy Coordinating Committee (MDCC) coordinates muscular dystrophy activities across the National Institutes of Health (NIH), with other Federal agencies and muscular dystrophy patient organizations. Recently, the MDCC...

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The EMA recommends Galafold for the treatment of Fabry disease for marketing authorization 19 April 2016

The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for Galafold (migalastat) for the treatment of Fabry disease, a rare genetic...

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Commission Expert Group on Rare Diseases: Recommendations to support the incorporation of rare diseases into social services and policies 19 April 2016

Commission Expert Group on Rare Diseases (CEGRD) has recently published recommendations to support the incorporation of rare diseases into social services and policies. These recommendations mainly focus on...

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Gene therapy for the treatment of children with ADA-SCID recommended for approval 19 April 2016

The European Medicines Agency (EMA) has also recommended a Strimvelis for the treatment of patients with adenosinedeaminase deficient severe combined immunodeficiency (ADA-SCID), who have no matching donor for...

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Patient Management and Therapy 22 March 2016

Neonatal screening identifies inidividuals who may be suffering from a range of conditions. Confirmatory diagnosis leads to treatment. For a number of these conditions new insights have been...

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Guidelines for diagnostic next-generation sequencing 22 March 2016

Guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders has been published in . The work was done on behalf...

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ESHG Statement on the utilisation of whole-genome sequencing in newborn screening 31 January 2016

The progress in whole genome sequencing technology has been gaining ground leading to a significant decrease in both the cost and time needed to generate data on the...

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New study finds a reason for ethnic disparity in Cystic fibrosis diagnoses 19 December 2015

Cystic fibrosis (CF) occurs less frequently in nonwhites than in whites, and nonwhites tend to be diagnosed at a later age. This late diagnosis often comes only once...

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New technology may standardize sickle cell disease screening for infants 10 December 2015

http://medicalxpress.com/news/2015-12-technology-standardize-sickle-cell-disease.html Researchers from Seidman Cancer Center at University Hospitals Case Medical Center and Case Western Reserve University School of Medicine presented new research findings this weekend at the...

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NORD publishes State Policy progress report: a state by state analysis 01 December 2015

In the United States patient access to health care is increasingly dependent upon state policies. To understand the similarities and differences among the states on rare disease policies,...

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Newborn screening in Australia: current environment and future perspectives 11 October 2015

The current state of newborn bloodspot screening in Australia and the lessons it needs to learn from international programmes to upgrade its operation is explained in Frontiers in...

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