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Dear Members, This is to inform you that Mac Keith Press have recently published the book Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management edited by Nicolas Deconinck and Nathalie Goemans, which could be of great interest to you: http://www.mackeith.co.uk/shop/neuromuscular-disorders-in-children-a-multidisciplinary-approach-to-management/ The book critically reviews current evidence of management approaches in the field of neuromuscular disorders (NMDs) in children. Uniquely, the book focusses on assessment as the cornerstone of management and highlights the importance of a multidisciplinary approach. From the Foreword...
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...
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 ...
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...
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...
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...
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 a functional...
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...
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...