Dravet Syndrome Foundation’s Post

A few weeks ago, I shared my perspective on Sanofi's commitment to immunoscience and how R&D is driving our portfolio transformation. Now I’m lucky enough to have the opportunity to highlight an insightful look at how this strategy is coming to life – and already bearing results – in neurology. We’re calling our innovation here neuroimmunology, and it is driving how we understand neurological diseases: how they work, the mechanisms that connect them, what happens inside the body and how it affects the mind. By applying immunoscience to our expertise in neurology, we can combine deep pathway knowledge with complex disease pathology data to uncover the overlaps between conditions we have traditionally dismissed as different or even completely unrelated. Historically, researchers have set classical immunological conditions entirely apart from diseases of the central nervous system, and understandably so. But as our interrogation of the immune system has become broader and more sophisticated, we’re starting to see the same mechanisms implicated over and over again in (seemingly) disparate diseases. The threads that connect the nervous system with the immune system, in particular, are substantial. We now understand that inflammatory processes, for instance, play a key role in many neurodegenerative conditions – something most of us wouldn’t have even considered just a few decades ago.   This new approach is driving our research in multiple sclerosis, where we believe neuroimmunology holds the key to fighting disability progression. And there is much more to come across Parkinson’s, Alzheimer’s, and CIDP.  I’m very proud of the work of our team, which is truly trail-blazing. Keep your eye on neuroimmunology: https://lnkd.in/eCSs-v8Q

Immunoscience drives transformational innovation in neurological disorders! We continue to research the neurobiology-immuno-science intersection to develop new treatments for those affected by devastating neurological, neurodegenerative, and neuropsychiatric diseases. Onwards!!

Today is global Motor Neuron disease (#MND) awareness day. MND, also known as Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s disease, is a neurodegenerative disease that causes rapidly progressive muscle weakness. Specifically, the disease affects nerve cells (motor neurons) that control the muscles that enable us to move, speak, breathe and swallow. NeuRA’s MND clinic is led by Professor Matthew Kiernan AM and his team of researchers to provide in-depth assessment, care plans and ongoing support for people diagnosed with the disease. Professor Kiernan's group is focused on identifying the early signs of disease occurring in the brain before physical symptoms emerge, which in turn has led to new treatment options and established new guidelines for diagnosis, including the Gold Coast consensus criteria for MND, in partnership with key stakeholders such as the World Federation Of Neurology. Find out more about Professor Kiernan's path to MND research and vision for how we should understand and treat neurodegenerative disorders in future: https://lnkd.in/gBQCxqNd

Exciting news for paediatric oncology as NICE recommends new life-extending treatment for aggressive brain cancer. The ground breaking news promises to redefine care standards for children and teenagers battling an aggressive form of brain cancer. NICE (National Institute for Health and Care Excellence) has just recommended a new targeted drug combination treatment that marks a significant advancement in our fight against this devastating disease. The treatment, a combination of dabrafenib (also known as Finlee) and trametinib (also known as Spexotras), is poised to revolutionise care for patients with BRAF V600E mutation-positive glioma. What makes this recommendation particularly remarkable is its potential to not only extend life but also enhance its quality, a paramount consideration for patients and their families. One of the most remarkable aspects of this treatment is its accessibility. Unlike traditional hospital-based therapies, dabrafenib with trametinib can be administered at home, offering a level of convenience and comfort previously unheard of in paediatric oncology. This shift from hospital-centric care to home-based treatment represents a significant step forward in patient-centric care.

Epilepsy is one of the most common and disabling neurological disorders. It’s highly prevalent in children with neuro developmental delay and syndromic disease. First time prospective study of seven diagnostic centres in Germany, showing results head to head for panel sequencing, single exom and trio exom. 👉Young age, syndromic disease, extended clinical information and exom/ trio exome sequencing are associated with high diagnostic yield 👉High Proportion of actionable findings in older patients. 👉 Exploit the full potential of next generation sequencing 👉 Find the best answer for your patients, families and healthcare providers #Gfh #NASGE #MGZ #ESHG https://lnkd.in/evfmVFpR

ℹ️ Compelling results from SynapCell study to be presented at ASENT 2024 ℹ️   After a very successful collaboration, Avenue Therapeutics will present results on the anti-epileptic potential of their compound BAER-101 against Genetic Absence Epilepsy.   💡Exciting times are ahead, as BAER-101 could truly be life-changing for patients affected by the disease.   🤔 How do we measure this potential ? By assessing how well the compound suppresses generalized seizures in the form of spike-wave discharges (SWDs) in the GAERS rat model (Genetic Absence Epilepsy Rat of Strasbourg, a SynapCell worldwide exclusive model).   👉Don’t miss out on the thought-provoking presentation of Amy Chappell, M.D., FAAN (Regency I, Wednesday 13 | 1:30pm – 3:00 pm).   Avenue Therapeutics’ new paper : https://lnkd.in/dg29d9jt More on our generalized epilepsy services : https://lnkd.in/dE8D5JP

World Brain Day every July 22 On 22 July every year the World Federation of Neurology celebrates World Brain Day. The focus is promoting brain health for our global citizens & increasing awareness of neurological disorders. World Brain Day 2024: a focus on brain health and prevention - The Lancet Neurology We can celebrate World Brain Day by increasing our healthy lifestyle choices every day and in every way that can make our hearts sing. Promoting healthy brain aging is a gift we can give to ourselves and to all people we love, care for, and associate with. Speaking of singing … music is medicine. For a brief open-source overview of research, this is your link. JAL | Free Full-Text | Enhancing Neuroplasticity Is Urgent: Music and Dance for the UN/WHO Decade of Action for Healthy Ageing for All (mdpi.com) May your hearts be full of love and song in celebration of World Brain Day & beyond.

A comprehensive review article on TBI and reactive gliosis: “Our findings highlight the multifaceted nature of reactive gliosis, showcasing its dual roles as both a neuroprotective and potentially detrimental response to TBI. While reactive gliosis may contribute to tissue repair, immune modulation, and the restoration of homeostasis, it can also lead to secondary neuroinflammation and exacerbate neurological deficits” - Amlerova et al.

Check out this paper if you are interested in synaptic markers and how they are related to neurodegenerative diseases. We found that 14-3-3 and SNAP-25 are promising synaptic biomarkers of pathophysiological changes in AD. Neuronal pentraxins were identified as general indicators of neurodegeneration and associated with cognitive decline across various neurodegenerative dementias. The ratios of SNAP-25/NPTX2 and 14-3-3/NPTX2 were found to best predict cognitive decline and brain atrophy. #Alzheimers https://lnkd.in/dvZARJb2

This is today at the ASENT meeting! presentation by Avenue Therapeutics of BAER-101, with positive antiseizure effect on absence epilepsy in the GAERS model.