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Prof Haluk Topaloğlu
Prof Haluk Topaloğlu
Updated February 08, 2020
Emerging genetic therapies for rare disorders at high cost, cannot realistically address the global burden of disease - Stakeholders must develop new pathways to ensure safe, fair and sustainable provision of such therapies A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 people and based on the Food and drug administration (FDA) definition from the US, when it affects less than 200,000 at any one time. Genetic factors contribute to the etiology in 80% of those with rare diseases, and other contributing factors, including infection, account...
Adelina Soares
Adelina Soares
Updated February 08, 2020
Dear Members, The International Pediatric Stroke Organization (IPSO) has recently been incorporated as a global non-profit organization dedicated to pediatric stroke and cerebrovascular disease. It consists of physicians, surgeons, psychologists, nurses, therapists, and scientists. We invite you to consult the letter attached herewith (IPSO.pdf) and website for more details : https://internationalpediatricstroke.org All are welcome to express potential interest by joining the working group: https://internationalpediatricstroke.us20.list-manage.com/subscribe?u=fbd710760330cb982b781c49b&id=07d9906d9f ...
Adelina Soares
Adelina Soares
Updated February 08, 2020
The ICNA is very happy to hear that Dr. Greg Powell has been awarded an Order of Australia in the Queen´s Birthday Honours list for ´distinguished service to the international community of Zimbabwe in the field of paediatrics as a clinician and mentor´. Dr. Powell, MD, FRCP, FRACP is an Australian trained paediatrician who has lived in Zimbabwe since 1977. He was a Senior Lecturer at the University of Zimbabwe Medical School Department of Pediatrics from...
ICNA
ICNA
Updated February 08, 2020
Applications are invited from interested Project Supervisors for Seed Grant Funding under the Global Burden of Disease (GBOD) Research Trainee Fellowship program a new initiative of the International Child Neurology Association (ICNA). The Award The award consists of $ 2,000 for room and board for ~ 2-3 months plus up to $ 2,000 for roundtrip airfare. Timeline The deadline date for receipt of proposals on open competition from project supervisors is August 1. The Scoring and Selection of Grants fulfilling Criteria by Research Task...
ICNA
ICNA
Updated February 08, 2020
Researchers from Trinity College Dublin publishing in BRAIN describes for the first time a model of mitochondrial epilepsy. Mitochondrial disease is one of the most common forms of genetic diseases, affecting one in 9,000 births in Ireland with debilitating consequences. A quarter of patients with mitochondrial disease have epilepsy which is often severe and resistant towards conventional antiepileptic drugs. Currently no animal models are available to provide a mechanistic understanding of the condition. The current study has thrown light at the important role that astrocytes play in driving seizure generation in mitochondrial epilepsy. They recreated a novel brain...
US FDA approves world's most expensive drug Zolgensma one-time treatment for SMA
ICNA
ICNA
Updated February 08, 2020
ZOLGENSMA logo Swiss drugmaker Novartis has received US approval for its spinal muscular atrophy gene therapy Zolgensma® (onasemnogene abeparvovec-xioiT) for the treatment of pediatric patients less than 2years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene). The one time treatment drug is priced at a record $2.125m. Novartis executives have defended the price, saying a one-time treatment is more valuable than expensive long-term treatments that cost several hundred thousand dollars a year. Zolgensma® is designed to address the genetic root cause of SMA by providing...
ICNA
ICNA
Updated February 08, 2020
Kazuhiro Yamakawa and his team at the RIKEN Center for Brain Science (CBS) in Japan has shown that absence epilepsy can be triggered by impaired communication between two brain regions: the cortex and the striatum. The researchers took STXBP1 and SCN2A genes  created mice with one normal gene and one mutated gene -- a condition called haplodeficiency, which is different from a complete knockout. They showed that Spike Wave Discharges (SWD)  can be blocked by drugs than inhibit neurons from exciting each other. The scientists injected a neuronal inhibitor into several brain regions hoping to find which ones were...
ICNA
ICNA
Updated February 08, 2020
Leonardo da Vinci produced some of the world’s most iconic art, but historical accounts of his work practices and behaviour show that he struggled to complete projects. Drawing on these accounts, Professor Catani lays out the evidence supporting his hypothesis that, as well as explaining his chronic procrastination, ADHD could have been a factor in Leonardo’s extraordinary creativity and achievements across the arts and sciences. Professor Catani, from the Institute of Psychiatry, Psychology & Neuroscience at King’s, says: ‘While impossible to make a post-mortem diagnosis for someone who lived 500 years ago, I am confident that...
ICNA
ICNA
Updated February 08, 2020
According to a new study published on April 29 in Neuron, Tel Aviv University researchers identify a homeostatic mechanism that maintains activity set points in neural circuits which ensures the return to a set point after each event that increases or decreases brain activity. The research has raised potential implications for development of drugs to manage a range of neurological and neurodegenerative conditions including epilepsy. Research for the study was conducted by TAU PhD students Boaz Styr and Daniel Zarhin from Prof. Slutsky's team and PhD student Nir Gonen under the joint supervision of Prof. Slutsky...
ICNA
ICNA
Updated February 08, 2020
The ICNA Future Leaders Programme was launched at the Amsterdam ICNC in May 2016. The programme constituted a way forward to provide support for child neurology trainees and young child neurologists from across the world. The key objectives of the programme were to support training, promote educational activities and foster research in child neurology. There was an overwhelming response to call for nominations from members and a Future Leaders of ICNA (FLICNA) committee was selected from eligible members. The next step would see the elections to the chair of the committee. Nominations were invited recently...
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