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 / newborn 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"
ISNS publishes its own journal, please see http://www.mdpi.com/journal/neonatalscreening
Worldwide members per November 1, 2015
375 members in 73 countries.
Countries with at least one member are shown in blue-grey, others in green.
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 “example of the growing power that patients and their advocates wield over the federal government’s evaluation of drugs.’ Large and impassioned groups of patients, including boys in wheelchairs, and their advocates, weighed in. The muscular dystrophy community is well organised and has lobbied for years to win approval for the drug, getting members of Congress to write letters to the agency. A decision on the drug had been delayed for months.
The drug, eteplirsen, applicable to around 13% of the patients, uses exon skipping technology to partially correct the genetic defect, by allowing muscle cells to produce a truncated form of the protein lacking by these patients – dystrophin.
A group of independent experts convened by the FDA voted against the approval of the drug. According to them, there wasn’t sufficient evidence to prove its effectiveness. Although the FDA wanted the manufacturer Sarepta to perform a larger study with a placebo control, the company refused citing that it would be unethical and impractical due to its hints of effectiveness, which would be difficult to enroll children in the placebo group. They had therefore used historical data for comparison, which was considered inadequate by the experts.
The decision on the drug was delayed for months. However, bowing to the pressure from a well-organised DMD patient groups, the FDA had to approve the drug. The patient groups lobbied intensely to get this approval by getting members of congress to write letters to the agency. The final approval is considered a contentious decision by some and encouraging by others.
For further information
Read about this topic in The Lancet
(Source: Orphanews 30 Oct 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, which would set in motion negotiations on how to leave the bloc.
Although little is known at this stage about exactly what the exit of the United Kingdom would entail, many have expressed concern that the collaboration and cooperation which rare disease stakeholders have struggled for and achieved over the years, could be jeopardised,. Rare disease patient organisations have released statements attempting to allay concerns, as well as asking for solidarity in this moment of uncertainty. Genetic Alliance has released a statement expressing disappointment, but also asserted that they “will be a strong and focused presence, speaking truth to power in government, in parliament, in research, health care and in society so the voice of individuals and families is heard in the settlement of the outcomes of this referendum." A letter from the President of the European Association for Haemophilia and Allied Disorders (EAHAD) and the European Haemophilia Consortium (EHC) states that they will "remain committed to adequately representing patients in the EU and UK, improving patients’ lives, and furthering scientific and medical research.”
Patient organisations from countries neighbouring the UK, have also weighed in as it greatly impacts their situation as well. DEBRA Ireland has expressed deep concern over the referendum’s impact on European Reference Networks (ERN), which aim to bring together the best clinical specialists and to improve care for rare diseases. They believe that this decision may mean that the “UK rare disease patients may not now have easy access to clinical expertise in other EU countries and also for Irish patients, for whom UK centres of expertise are often the first port of call.” Other than delayed access for UK patients and possible loss of funding for UK research bodies, they have said that “the implications go far beyond British research groups and will be damaging to the many rare disease research networks that are reliant on valuable UK partners.”
EURORDIS has confirmed that they will continue to actively work with Rare Disease UK, Genetic Alliance and underscore the importance of “mov(ing) forward to analyse the impact and to start a dialogue to deal with the fallout so that people living with a rare disease in the UK do not suffer the consequences of Brexit.” EURORDIS also recognises that whether initiatives such as the ERNs and cross-border healthcare may be affected in the future, especially after 2017 when the “first successful ERNs are due to come to life”, remains unknown. They also indicate the possibility of the European Medicines Agency moving to another European country. The EMA has released a statement acknowledging that they are in unfamiliar territory and expressed openness to move as well. They have also added that the “European Regulatory Network as a whole is a very strong and flexible system that is able to adapt to changes without jeopardising the quality and effectiveness of its work.”
The hardest hit area could be rare disease research in the UK. Although a minority of scientists are sanguine about Brexit, for many the future of international collaborations and the freedom of students and researchers to move across the channel once the United Kingdom ceases to be an EU Member State are key worries. This could affect young European researchers, who are largely funded on ‘soft money’, which will in-turn affect rare disease research. However, most acknowledge that nothing will change in the immediate future for EU funded teams. The RD-Connect team at the University of Newcastle has released a statement expressing that although they feel passionately about the vote, “the outcome of the British EU referendum will not affect (their) accomplishments and it goes without saying that we will continue to work together across borders.” UK researchers attracted 17% (around €570 million) of the EU's Seventh Framework Programme's (2007-2013) entire budget. It is possible that the European funds for the UK, such as funds from Horizon 2020 could be curtailed to some extent, even if it becomes an associate member. Complex negotiations between the EU and UK will ultimately determine the full impact on UK research.
RD-ACTION will of course continue its work to promote the implementation of European recommendations in member states for the benefit of rare diseases patients. UK partners are major and committed collaborators in this project. Orphanet activities will continue in the UK. The work lead by the University of Newcastle contributing to the development and establishment of ERNs, and to the promotion of policies for rare diseases, will also continue.
Since the news of the referendum outcome broke, the furore has calmed down a little. The news cycle has turned. Although Brussels is waiting for the UK to begin formal negotiations, many political factors have complicated the present scenario. Rare disease patients and all other stakeholders will have to wait for negotiations between the EU and the UK to begin to determine the full consequence of the referendum.
(source: OrphaNews 18-07-2016, Editorial)
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 the New York State newborn screening laboratory in Albany, NY, USA. Few people knew that Ken also did much work in helping NBS programmes in developing countries to get started and expanded.
Recently ISNS was approached by Mr Thomas Mookken, CEO of NeoGen Labs, Bangalore, India, with a proposal to create a travel fund in Ken’s honour, to stimulate colleagues in countries neighbouring India to travel to and participate in NBS conferences and/or related projects. After some discussion the name "Ken Pass Memorial Travel Fund" was selected. Ken’s widow Karen was pleasantly surprised and with great enthusiasm gave her permission to use Ken’s name for this purpose.
NeoGen Labs provided EUR 5000 to ISNS as custodian, to be spent in five annual portions of EUR 1000 to provide applications for travel support. Preference is given to applicants from the following countries: Bangladesh, Bhutan, Nepal, Maldives, Pakistan, and Sri Lanka. Applicants do not need to be ISNS member. The application procedure is identical to the usual one for ISNS travel support. Please go to http://www.isns-neoscreening.o
ISNS wants to express its thanks to NeoGen Labs for this generous donation.