CRICO’s Post

New Model Available for #Parkinson’s Disease Research! ✔️Avoid Developmental Compensation ✔️No Licensing Required to Obtain Mice ✔️Validated in Several Key Studies Discover how the Floxed Parkin mouse model can accelerate advancements in your research program: https://bit.ly/3VLQtyy

In her piece for Genetic Alliance UK, Rebecca Starkie, Sr. Director of Patient Engagement, discusses how clinical research studies are paving the way for hope and breakthroughs for rare disease patients worldwide. Read the blog: https://hubs.la/Q02CxW6K0 #ClinicalResearch #RareDisease

A huge honor being part of the 7th edition of the fabulous and reknown “Rose and Mackay Textbook of Autoimmune Diseases” edited by Eric Gershwin George Tsokos and Betty Diamond. We are delighted and very thankful being invited by the editors ! Together with Daniel Prof. Dr. med Franzen, MD, MHBA, FCCP and Jakob Nilsson it was an immense pleasure to write the chapter on sarcoidosis, a systemic inflammatory disease, characterised by granuloma formation. No need to say but what is the Rose and Mackay Textbook of Autoimmune Diseases famous for? “a valuable resource to clinicians involved in the diagnosis and treatment of autoimmune disease, as well as to scientists who want to follow developments in the field.” “comprehensive reference that emphasizes the "3 P’s" of 21st Century medicine: precision, prediction, and prevention” Here is the link: https://lnkd.in/d785d6pQ Together we also wrote a comprehensive review on the topic published in Swiss Medical Weekly, found here: https://lnkd.in/dUvQnbR2 #autoimmunity #immuneregulation #precisionmedicine #preventivemedicine

Scientific inspiration can come from the most unexpected places. For National Institute of Dental and Craniofacial Research (NIDCR)'s Dr. Eva Mezey, dinner with a friend and fellow scientist whose lab focused on fish helped jumpstart the discovery of bone marrow cells that can make a substance capable of fighting infections and regulating overactive immune responses. Learn more about the #NIH_IRP research that led to this discovery: https://go.nih.gov/3bgeLYq

On March 12th we celebrate World Glaucoma Day. What exactly is glaucoma? Glaucoma is an eye disease. More specifically, it is a disease that affects the optic nerve initially causing a loss of peripheral vision (in the visual field) in patients If it is not detected early on and properly treated, it may progress towards a more serious vision loss and affect central vision. Many of the glaucomas have a genetic basis and actually in most of them there is an elevation of the intraocular pressure that, together with other factors, causes damage to the optic nerve and provokes an early death of the nerve cells that compose it. Doctor Alfonso Antón, head of the Glaucoma’s Department of ICR, explains through this interview why is so important an early detection of Glaucoma. https://lnkd.in/gwFk_YPf #glaucomaawareness #glaucoma #blindess #nuangle

GABA-A Alliance News❗️ ‐----------------------------------------------- GABA-A Alliance, among 144 other rare disease communities, has taken part in signing on to the Brain Research Through Advancing Innovative Neurotechnologies (BRAIN) with the American Brain Coalition The BRAIN Initiative letter was submitted to both the House and Senate Subcommittees on Labor, Health and Human Services. This letter represents our collective efforts to advocate for robust funding from Congress in Fiscal Year (FY) 2025. The BRAIN Initiative is a critical program that has the potential to revolutionize our approach to brain research and treatment and improve the lives of millions of individuals impacted by brain diseases and conditions. Through this sign-on letter, we urge Congress to prioritize funding for this important program, ensuring that researchers have the resources they need to make significant strides in neuroscience research and drug discovery. To read more about the initiative please visit: https://lnkd.in/gkaTQkC On behalf of our GABA-A Alliance community & patients, we thank you for your continued support, and we look forward to continuing these advocacy efforts. For more updates, please make sure you're subscribed at www.gabaa.org

Developing a #biologicaldefinition of #ParkinsonsDisease and #LewyBodyDementia. Important progress in understanding these diseases and identification of biomarkers that can support diagnosis and drug discovery efforts. #Brendel https://lnkd.in/gHXcBek3

Thrilled to announce the publication of my first article on Wilson’s Disease with Geeky Medics! 🎉 Wilson’s Disease is a rare genetic disorder affecting copper metabolism, and understanding it is crucial for early diagnosis and management. In this article, I dive into the pathophysiology, clinical features, and the importance of timely treatment. I hope this resource will be valuable to both medical students and professionals alike. You can check out the article here: https://lnkd.in/dQBd3xeG #GeekyMedics

ICON’s Patient Centred Outcomes (PCO) team supports Sickle Cell Awareness Month. With over 45 staff located across Europe and North America, the PCO team are constantly working to advance knowledge and research across numerous therapeutic areas, including understanding the impact of genetic conditions on patients’ quality of life. The PCO team have conducted a wide range of research into genetic conditions such as sickle cell disease. Here are some of PCO’s key publications which shine a spotlight on the valuable insights the patient and caregiver voices bring to sickle cell research. • Patient and Caregiver Perspectives on Care-Seeking During a Vaso-Occlusive Crisis in Sickle Cell Disease: Results from Qualitative Interviews in Canada: https://ow.ly/gjcF50TlRlL • Patient-Reported Experiences in Voxelotor-Treated Children and Adults with Sickle Cell Disease: A Semistructured Interview Study: https://ow.ly/qleO50TlRlI #SickleCellAwarenessMonth #ICONplc #ClinicalOutcomeAssessment #PatientCentredOutcomes #QualiftyofLife

Inherited Retinal Diseases (IRDs) are the leading cause of blindness in working-age Australians, and until recently, there were no treatments available. Dr Ceecee Britten-Jones, from our Department of Optometry and Vision Sciences, explains how the latest advances in genetic testing and clinical trials are improving diagnosis and paving the way for new treatments → unimelb.me/3Tejdzg