Neurometabolic Disease
EUROPEAN PARTNER
An Introduction to Neurometabolic Disease
Advances in next-generation sequencing and next-generation metabolic screening have greatly improved diagnosis and increased our understanding of neurometabolic diseases. Novel neuroradiology techniques, such as diffusion-weighted imaging and proton MR spectroscopy, are also increasing our understanding of the disease mechanisms. Gene therapy is starting to fulfil its potential in the treatment of some neurometabolic disorders.
Browse video highlights and short articles from the conference hub, providing insights into the latest updates from major conferences and peer-reviewed articles from the journal portfolio. This is complimented by a range of educational activities from our expert faculty, with patient outcomes at the forefront.
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Physician burnout is at a critical point. In this episode, Nicky speaks with Dr Alfred Atanda about why so many physicians are burning out and what can be done to change the trend. From personal experience to system-wide solutions, Dr Atanda shares valuable insights on improving physician well-being and building a more effective healthcare culture.
What if your medical degree could launch more than a clinical career? In this candid and compelling read, Dr Jon Edelson shares his lessons for early-career clinicians ready to think beyond the bedside and explore the business of medicine.
In this episode, we explore the future of continuing medical education (CME) with the team behind touchIME. Hannah Fisher and Matthew Goodwin share insights into global and US trends, the importance of patient inclusivity and how educational outcomes are evolving to better measure the direct impact of learning on clinical practice and patient care.
In this episode, we’re joined by Bradley Love, Professor of Cognitive and Decision Sciences at UCL, ELLIS fellow, and creator of BrainGPT. We discuss how this large language model is poised to assist researchers in advancing their work.
touchNEUROLOGY caught up with Tahseen Mozaffar (University California, Irvine, CA, USA) to discuss the results from the PROPEL study (NCT03729362) investigating the use of AT-GAA for the treatment of late-onset Pompe disease. Questions: Could you tell us a little about ...
Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) describes the impact increased migration has had on the pathophysiology of neurological conditions and the need to increase awareness of this amongst neurologists. Questions 1. ...
Antonio Federico (EAN Scientific Committee Chair; Professor, Clinical Neurology and Neurometabolic Diseases, University of Siena, Italy) discusses the unique challenges that rare neurological diseases bring and how the EAN have a Task Force focused on this important area. Questions 1. Could ...
Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the ...
Günther Deuschl (EAN President; Professor of Neurology, Department of Neurology, University Hospital Schleswig-Holstein, Kiel Campus, Germany) kindly took the time to discuss with us the burden of neurological diseases in Europe, including disparities across our continent, and how the ...
Thapanee Somboon (Cleveland Clinic, OH) talks us through the key findings of her two presentations, which focused on the prevalence of high risk obstructive sleep apnea and insomnia in neurological populations (abstract available here) and the performance of sleep apnea ...
In this exclusive interview during WORLDSymposium 2015, Nicholas Clayton, MSc, staff scientist at Genzyme Corporation discusses the exciting new data he and his colleagues presented on antisense therapy that is in development to treat patients with Pompe disease.
Dr. Marc Patterson a pediatric neurologist at Mayo Clinic discusses Niemann-Pick disease type C.
Priya Kishnani, MD, professor of Pediatrics at Duke University School of Medicine and practicing geneticist at Duke Children's Hospital discusses our current understanding of the pathophysiology and management of Pompe disease.
Beth Thurberg, MD, PhD, vice president of Pathology at Genzyme Corporation discusses the results of clinical trial looking at clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease. ...
Looking at clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease. ...
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