Our vision: ISNS is recognized worldwide for its contributions to the detection of neonatal conditions and the prevention of their adverse outcomes through excellence in neonatal screening.
Our mission: To enhance the quality of testing and medical services through dissemination of information, guidelines and best practices that benefit all family members and their babies by helping to ensure protection of babies from life-quality threatening conditions.
Welcome to the website of the International Society for Neonatal Screening (ISNS).
This society is aiming to advance screening for neonatal and infant sicknesses and disorders, worldwide.
ISNS has around 350 members in more than 70 different countries. Most members have a professional (para)medical background but a few are involved in parents' or patients' organisations.
For more information about ISNS visit the ISNS-Info section (see above).
ISNS welcomes new members who have demonstrated an active interest in neonatal screening.
Why should I join as a member?
As a member you are entitled to see the privileged pages containing specific news items, a monthly neonatal screening literature service and a discount to ISNS-related conferences. Under certain conditions you may apply for travel grants to such conferences. Having access to the on line membership directory you have easier access to other members sharing specific interests.
How do I become a member?
Please read the Membership-info section (see above) and subsequently click on the button "Member subscribe"
Worldwide members per May 1, 2014
350 members in 68 countries.
Countries with at least one member are shown in blue-grey, others in green.
Michele A. Lloyd-Puryear, M.D., Ph.D, medical advisor for the Save Babies Through Screening Foundation, was awarded the prestigious R. Rodney Howell Award, for Excellence in Newborn Health, this past weekend. The Newborn Foundation honors leaders in newborn health, technology, policy and advocacy at their yearly awards gala, held this year in Minneapolis. Dr. Lloyd-Puryear is an accomplished professional with decades of experience focused on critical issues involving genetics and rare diseases. Over the course of her distinguished career, she has been instrumental in crafting legislation, and raising awareness about the use of genetic medicine and technology, including repositioning the issue of newborn screening as one of our most important and effective public health programs. As a key member of the Save Babies Through Screening Foundation team, she brings a tireless focus and commitment to the cause of universal newborn screening.
(source: SBTS mailing Oct 16, 2014)
Since the European Commission’s Communication on Rare Diseases: Europe’s challenge of 2008 and the Council’s Recommendation on an action in the field of rare diseases of 2009, significant achievements have been accomplished and initiatives launched to improve rare disease diagnosis and care in EU Member States. The Commission Communication aimed to enhance recognition, support Member State policy and develop EU harmonisation and regulation in the field of rare diseases. The Council’s Recommendation appealed to Member States to implement national plans on rare disease management and aimed to define, code and record rare diseases, increase research, build European Reference Networks, gather EU expertise, empower patient organisations and develop sustainability.
Earlier this month, the Commission published its implementation report on the Commission Communication and Council Recommendation, outlining accomplishments and lessons learnt for further action. The Commission co-funded the EUROPLAN project and EUCERD Joint Action to help Member States develop, implement and evaluate their national plans and strategies for rare disease policy and classification. To date, sixteen Member States have proposed a national plan on rare diseases and a further seven are in the process of developing their strategy.
The Council Recommendation stipulates that Member States must establish clear and common definitions of rare diseases. Member States with national plans have adopted EU definitions of rare diseases and use the International Classification of Diseases ICD-9 or ICD-10 systems. Some Member States have begun introducing ORPHA codes in parallel, developed by the Orphanet Joint Action, since
ICD-9 and ICD-10 do not include most rare diseases. To increase the presence of rare diseases in international nomenclature, the EUCERD Joint Action is contributing to the WHO ICD-11 draft.
Via its Seventh Framework Programme for Innovation and Technology Development (FP7), the EU has funded some 120 multidisciplinary research projects on rare diseases. Projects such as E-RARE-2 coordinate and strengthen multidisciplinary and multi-national projects. Launched in 2011, IRDiRC’s 41-member consortium illustrates the EU’s ongoing commitment to promote international collaboration on rare disease research. The Commission aims to further harmonise research through a European Platform on Rare Diseases Registration, centralising information on patient registries accessible to all stakeholders.
In accordance with Article 12 of Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare and based on ten pilot projects, the Commission is developing European Reference Networks to establish collaborative centres of expertise on rare diseases. Pooling expertise from Member States into reference centres will help harmonise best practice, diagnostic and screening techniques, and patient care. The Commission also aims to facilitate access to orphan products that are not systematically approved in all Member States. The Commission and Member States initiated a Mechanism of coordinated access to orphan medicinal products (MOCA) to organise the assessment of new medicines via a platform on access to medicines in Europe.
The Commission is confident the Communication and Council Recommendation have reached their objectives to strengthen collaboration among EU Member States and with relevant stakeholders. This implementation report measures both achievements and future strategies to continue improving rare disease research and treatment, as well as the quality of life of patients and their families. While the recent advances presented in this report are encouraging, the Commission acknowledges the considerable efforts still required to ensure all rare disease patients are adequately cared for throughout the EU. The Commission intends to achieve this through the new Health Programme and EU Research and Innovation Programme Horizon 2020.
Read the implementation report
(source: Orphanews 30 september 2014)
The Pompe Registry sheds light on improving Pompe disease diagnosis
Pompe disease is a neuromuscular disorder caused by lysosomal enzyme deficiency, resulting in glycogen accumulation in skeletal, cardiac and smooth muscle tissues, and death through organ and system failure. In its most severe form, symptoms manifest within the first months following birth, and death usually ensues before two years. Late-onset Pompe disease occurs after 12-months of age or in late adulthood. In an article published in Molecular Genetics and Metabolism, Kishnani et al. review methods to diagnose Pompe disease, based on reports of the Pompe Registry’s 1,059 patients.
Enzyme activity assays remain the preferred method to diagnose Pompe disease, with a growing use of blood-based assays as opposed to long and invasive tissue-based methods and muscle biopsies. While the authors also report an increased use of DNA analysis methods, they do not recommend these techniques, as the exact gene mutation locus for Pompe disease varies. Pompe disease specific staining techniques, such as the periodic acid-Schiff to diagnose vacuolated muscle fibres present in infants, show promise as they are quick, inexpensive and relatively non-invasive. The authors suggest the increasing use of blood-based assays, alone or combined with other methods, will contribute to earlier diagnosis of Pompe disease, resulting in more timely patient management such as early enzyme replacement therapy.
Consult the PubMed abstract
Late-onset Pompe disease in Finland is rarer than estimated
Only one patient has been diagnosed with late-onset Pompe disease in Finland in the past ten years. The authors of an article, published in Neuromuscular Disorders, screened 108 Finnish myopathy patients in order to identify any undiagnosed Pompe disease cases. Applying the widely accepted blood-based enzyme assay, Palmio et al. discovered no new cases among Finland’s myopathy patients. They conclude that the incidence of Pompe disease in Finland is far lower than estimated and inferior to frequency in other European countries. Palmio et al. suggest therefore that commonly found GAA mutations in Pompe disease in central Europe are very rare in the Finnish population. They believe Finland’s genetically isolated situation explains the low frequency of certain rare disease genetic mutations, including those for Friedreich ataxia, cystic fibrosis and galactosaemia among others.
Consult the PubMed abstract
(source: Orphanet 18-09-2014)