Andelyn Biosciences’ Post

Neurofibromatosis (NF) is a genetic disorder of the nervous system that causes tumors to form on the nerves anywhere in the body at any time. We speak frequently about NF1, so here are a few NF2-related schwannomatosis or "NF2" and schwannomatosis facts to understand. Want to stay current with information and events from the NF Network? Go to https://lnkd.in/eP_Dk7k to stay iNFormed. #nf #nf2 #schwannomatosis #neurofibromatosis #nfawareness #connectingnf #neurofibromatosistype1 #endnf

Dive into our latest case study uncovering the intricate connections between 𝗽𝗮𝘁𝗶𝗲𝗻𝘁 𝗵𝗶𝘀𝘁𝗼𝗿𝗶𝗲𝘀 and 𝗿𝗮𝗿𝗲 𝗻𝗲𝘂𝗿𝗼𝗹𝗼𝗴𝗶𝗰𝗮𝗹, 𝗻𝗲𝘂𝗿𝗼𝗺𝘂𝘀𝗰𝘂𝗹𝗮𝗿, and 𝗴𝗲𝗻𝗲𝘁𝗶𝗰 𝗱𝗶𝘀𝗼𝗿𝗱𝗲𝗿𝘀. Don't miss out on this insightful exploration – read now and expand your understanding of medical diagnostics! #RareDiseaseInsights, #PatientCaseStudies, #NeuroGeneticDiagnoses

I am so happy to share our recently published paper "DNA methylation of imprint control regions associated with Alzheimer’s disease in non-Hispanic Blacks and non-Hispanic Whites" in Clinical Epigenetics. https://lnkd.in/esguWN4T

Rare Disease Day is February 29th and one such example (among many) is PDCD, pyruvate dehydrogenase complex deficiency. 1 in 40,000 children will be born with PDCD, and genetic medicine combined with standards of care, small molecule therapy, and early diagnosis will give them a fighting chance. How are you showing that you #careaboutrare this Rare Disease Day? Visit the link to learn more about PDCD and the Hope for PDCD Foundation, and to help spread the word.

Rare Disease Day is February 29th and one such example (among many) is PDCD, pyruvate dehydrogenase complex deficiency. 1 in 40,000 children will be born with PDCD, and genetic medicine combined with standards of care, small molecule therapy, and early diagnosis will give them a fighting chance. How are you showing that you #careaboutrare this Rare Disease Day? Visit the link to learn more about PDCD and the Hope for PDCD Foundation, and to help spread the word.

Rare Disease Day is February 29th and one such example (among many) is PDCD, pyruvate dehydrogenase complex deficiency. 1 in 40,000 children will be born with PDCD, and genetic medicine combined with standards of care, small molecule therapy, and early diagnosis will give them a fighting chance. How are you showing that you #careaboutrare this Rare Disease Day? Visit the link to learn more about PDCD and the Hope for PDCD Foundation and to help spread the word. #thermofisheremp

Excited to unveiling my e-poster on Bardet-Biedl Syndrome! This research delves into the genetic and clinical aspects of this rare disorder, highlighting insights and potential therapeutic approaches. 📊 Key highlights include: - Comprehensive genetic analysis - Clinical manifestations and diagnosis - Potential pathways of treatment Your feedback and thoughts are highly appreciated. Let's connect and discuss how we can further the understanding and treatment of Bardet-Biedl Syndrome. #BardetBiedlSyndrome #GeneticResearch #RareDiseases #MedicalResearch #HealthcareInnovation

🔍 **Understanding Marfan Syndrome: Navigating a Genetic Landscape** Marfan syndrome, a genetic disorder impacting connective tissue, warrants attention in both medical and public spheres. Individuals with Marfan often exhibit tall stature, long limbs, and joint hypermobility, but it's the internal complexities that necessitate awareness. **Genetic Roots:** Caused by mutations in the FBN1 gene, Marfan syndrome poses challenges to various body systems, particularly the skeletal and cardiovascular. Early diagnosis becomes pivotal for proactive management. **Multidisciplinary Approach:** Effective care involves a collaborative effort. Genetic counselors, medical professionals, and patients work together to navigate the intricate landscape of Marfan syndrome. Regular monitoring and preemptive measures are integral to addressing potential complications. **Empowering Through Knowledge:** Raising awareness about Marfan syndrome is essential to foster understanding and support. Genetic counseling serves as a guiding light, offering individuals and families the information needed to make informed decisions about their health. **Looking Forward:** As medical research advances, our understanding of Marfan syndrome deepens. Sharing knowledge, providing support, and embracing a holistic approach are key in ensuring those affected by this condition lead fulfilling lives. Let's continue to build awareness, promote understanding, and support those navigating the complexities of Marfan syndrome. #MarfanSyndrome #GeneticDisorders #HealthAwareness #MedicalScience

Inborn errors of immunity (IEI) represent a complex array of disorders, but recent breakthroughs in next-generation sequencing (NGS) are transforming how we understand and treat them. Our latest article delves into the pivotal role of NGS technologies in diagnosing and managing IEI, shedding light on their impact on patient outcomes. Our review underscores the significance of NGS in navigating the complexities of IEI, emphasizing the importance of genetic counselling and the pivotal role of registries in advancing our understanding of these rare disorders. Together, let's harness the power of innovation to improve outcomes for IEI patients worldwide. Join the conversation and explore the future of immune system disorder management! #NGS #IEI #biomedicalresearch

I had the opportunity to contribute to a recent Medical News Today article focusing on Yakeel T. Quiroz's groundbreaking work in cracking the Alzheimer's genetic code. Both of us owe much of our success to the invaluable guidance of Alice Cronin-Golomb and her Boston University Vision & Cognition Lab. This research is a crucial step in unraveling the mysteries of Alzheimer's disease. Dive into the article to learn more. Congrats Yakeel T. Quiroz, PhD! #bostonuniversity #alzheimersdisease #paisamutation