Bioscience Account Manager @ Thermo Fisher Scientific --- Enabling Science Through Excellent Products and Outstanding Service
With the connection made in three unrelated patients we were able to finally classify this as a new disorder, said co-senior author Anne O'Donnell-Luria, MD, PhD, co-director of the Broad Center for Mendelian Genomics, clinical #Genetics physician at Boston Children's Hospital, and assistant professor of pediatrics at Harvard Medical School
The article discusses the use of multi-modality imaging and multi-omics approaches in the study of pediatric neurogenetic disorders. It highlights three articles that focus on multi-modality imaging and one article that employs a multi-omics approach. The first article examines brain structural changes in girls with Rett syndrome, the second article investigates differences in brain nuclei between obese children with and without Prader-Willi syndrome, and the third article aims to identify a gene signature that can predict the prognosis of high-risk neuroblastoma. The article emphasizes the potential benefits of these approaches in enhancing the diagnosis, treatment, and understanding of pediatric neurogenetic disorders, while also acknowledging the challenges associated with their use in this context. #healthcare #medicine #neurogenetics #neurology #pediatrics
This study aimed to resolve unsolved whole-genome sequencing (WGS) data in individuals with pediatric neurological disorders. The researchers used a cohort study method with updated bioinformatic tools, new analysis targets, clinical information, and literature databases to reanalyze existing unsolved genome data. From January 2016 to September 2023, a total of 615 individuals under 18 years old with neurological disorders received singleton WGS, and 102 of the 364 unsolved cases consented to reanalyze their existing WGS data. The diagnostic yield of the clinical WGS data reanalysis was 28.4%, with 29 out of 102 individuals receiving successful molecular diagnoses. The reasons for non-detected causative variants in the initial analysis were variant reclassification (31%), analytical issues (31%), new emerging disease-gene associations (27.6%), and clinical updates (10.3%). New disease genes, structural variations, and deep intronic splice variants made significant contributions to the diagnostic yield. The cumulative diagnostic yield of clinical WGS in the entire study cohort increased from 40.8% to 45.5% after reanalysis. #ClinicalResearch #Neurology #NextGenSequencing #Pediatrics #PrecisionMedicine #WholeGenomeSequencing
🧠 Fascinating research suggests that lamotrigine, a well-known epilepsy medication, could potentially prevent optic gliomas in children with NF1, a genetic disorder that causes tumors on nerves, including the optic nerve. 🔬 In studies with mice, lamotrigine halted tumor growth by suppressing neuronal hyperactivity. This promising outcome paves the way for clinical trials to see if lamotrigine can effectively prevent or delay brain tumors in children with NF1. 🧒🏼 Imagine the impact – treating symptom-free kids for a short period to possibly prevent future tumors and avoid more severe treatments. ⚕ With the complexity of developing treatments for brain conditions, especially in children, such medication is a viable option for better patient outcomes. What are your thoughts on this research and the potential for clinical trials? #Clinicaltrials #Pediatrics #Neurology
Professor and Chair Dept. of Neuropediatrics and Muscle Disorders - Medical Center University of Freiburg
https://lnkd.in/efH5kpkC We are very pleased to share our recent SMArtCARE publication in JAMA Pediatrics analyzing the effectiveness of newborn screening for SMA in a non-randomized parallel group study. Although the benefits of newborn screening are already appreciated within the SMA community, the regional pilot study for newborn screening in Germany provided a unique opportunity to confirm these benefits in a controlled study design. The results will hopefully aid in advancing newborn screening programs in countries where treatments are available, yet newborn screening has not yet been adopted. We extend our sincere gratitude to the more than 70 hospitals in Germany, and Austria for contributing data to the SMArtCARE registry, making these crucial real-world data analyses possible. Our heartfelt thanks also go to the patient community, whose participation and support are fundamental to our success. Additionally, we appreciate Biogen, Novartis Gene Therapies, and Roche for their support of the registry, while fully respecting SMArtCARE network's academic independence in terms of data access, analysis, and publication. #spinalmuscularatrophy #raredisease #research #smaawareness #newbornscreening #ISNS #InitiativeSMA SMA Europe Screen4Care International Society for Neonatal Screening European Alliance for Newborn Screening for Spinal Muscular Atrophy JAMA Pediatrics Universitätsklinikum Freiburg
Excited to share my first-ever poster presentation at the Neuropediatrics meeting at St. John's Hospital! 🎉 Grateful to both the Neurology and Pediatrics departments for this incredible opportunity. I’ll be presenting on "The Wrong Source Code: An Ultra-Rare Case of Deglycosylation." 1. NGLY1-related Congenital Disorder of Deglycosylation (NGLY1-CDDG) is a rare multisystem disorder that predominantly impacts neurodevelopment. Early diagnosis plays a vital role in effective management. 2. It is a multisystem neurodevelopmental disorder, typically presents with developmental delay, hyperkinetic movement disorder, hypolacrimia, and elevated transaminases. 3. It is the first identified disorder of deglycosylation, with its initial discovery in 2012. To date, only 60 cases have been reported worldwide. 4. The enzyme N-glycanase (NGLY1), located on chromosome 3, facilitates the breakdown of misfolded glycoproteins in the Endoplasmic Reticulum. Mutations in the NGLY1 gene, particularly nonsense mutations, can result in protein aggregation. 5. There are no definitive treatment options. Multi-disciplinary team management instilled for these patients. There are therapeutic trials underway such as enzyme replacement therapy, Gene therapy and inhibition of endo-beta-N-acetylglucosaminidase (ENGase). #Neuropediatrics #MedicalResearch #PosterPresentation
⚡️I’m thrilled to share that our last research article, “Effect of early post-hematopoietic stem cell transplant tacrolimus concentration on transplant outcomes in pediatric recipients: one facility's ten-year experience of immunosuppression with tacrolimus”, is finally out! 🎯 🔎📄Check it to explore our findings! —> https://lnkd.in/dDP3Zcu8 #research #pediatrics #allogeneic #HSCT #tacrolimus #outcomes
𝗔𝗱𝘃𝗮𝗻𝗰𝗶𝗻𝗴 𝗣𝗲𝗱𝗶𝗮𝘁𝗿𝗶𝗰 𝗡𝗲𝘂𝗿𝗼𝗴𝗲𝗻𝗲𝘁𝗶𝗰𝘀: 𝗧𝗿𝗮𝗻𝘀𝗳𝗼𝗿𝗺𝗶𝗻𝗴 𝗖𝗵𝗶𝗹𝗱 𝗡𝗲𝘂𝗿𝗼𝗹𝗼𝗴𝘆 The integration of 𝗣𝗲𝗱𝗶𝗮𝘁𝗿𝗶𝗰 𝗡𝗲𝘂𝗿𝗼𝗴𝗲𝗻𝗲𝘁𝗶𝗰𝘀 into 𝗰𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝗽𝗿𝗮𝗰𝘁𝗶𝗰𝗲 is revolutionizing the diagnosis and treatment of neurological disorders in children. Here are some key applications making a significant impact: 𝗔𝗰𝗰𝘂𝗿𝗮𝘁𝗲 𝗗𝗶𝗮𝗴𝗻𝗼𝘀𝗶𝘀: 𝗚𝗲𝗻𝗲𝘁𝗶𝗰 𝗧𝗲𝘀𝘁𝗶𝗻𝗴: Techniques like whole-genome and exome sequencing allow early detection of genetic mutations, aiding in the diagnosis of epilepsy, autism, and neurodegenerative diseases. 𝗕𝗶𝗼𝗺𝗮𝗿𝗸𝗲𝗿 𝗜𝗱𝗲𝗻𝘁𝗶𝗳𝗶𝗰𝗮𝘁𝗶𝗼𝗻: Genetic biomarkers help predict disease progression and treatment response. 𝗧𝗮𝗿𝗴𝗲𝘁𝗲𝗱 𝗧𝗵𝗲𝗿𝗮𝗽𝗶𝗲𝘀: 𝗚𝗲𝗻𝗲 𝗧𝗵𝗲𝗿𝗮𝗽𝘆: Treatments like Zolgensma for SMA and Luxturna for LCA deliver functional genes to correct genetic defects. 𝗖𝗥𝗜𝗦𝗣𝗥 𝗚𝗲𝗻𝗲 𝗘𝗱𝗶𝘁𝗶𝗻𝗴: Promising for conditions such as Duchenne Muscular Dystrophy and certain epilepsies. 𝗥𝗡𝗔-𝗯𝗮𝘀𝗲𝗱 𝗧𝗵𝗲𝗿𝗮𝗽𝗶𝗲𝘀: Drugs like Spinraza modify RNA to treat SMA. 𝗣𝗲𝗿𝘀𝗼𝗻𝗮𝗹𝗶𝘇𝗲𝗱 𝗠𝗲𝗱𝗶𝗰𝗶𝗻𝗲: 𝗣𝗿𝗲𝗰𝗶𝘀𝗶𝗼𝗻 𝗠𝗲𝗱𝗶𝗰𝗶𝗻𝗲: Tailoring treatments to genetic profiles enhances efficacy and reduces side effects. 𝗣𝗵𝗮𝗿𝗺𝗮𝗰𝗼𝗴𝗲𝗻𝗼𝗺𝗶𝗰𝘀: Customizing medications based on genetic makeup optimizes outcomes. 𝗥𝗲𝗴𝗲𝗻𝗲𝗿𝗮𝘁𝗶𝘃𝗲 𝗠𝗲𝗱𝗶𝗰𝗶𝗻𝗲: 𝗦𝘁𝗲𝗺 𝗖𝗲𝗹𝗹 𝗧𝗵𝗲𝗿𝗮𝗽𝘆: Research on using stem cells to repair neural tissues for conditions like cerebral palsy is promising. 𝗡𝗲𝘂𝗿𝗼𝗽𝗿𝗼𝘁𝗲𝗰𝘁𝗶𝘃𝗲 𝗦𝘁𝗿𝗮𝘁𝗲𝗴𝗶𝗲𝘀: Developing agents to preserve neuronal function in diseases like Rett syndrome. 𝗜𝗻𝘁𝗲𝗴𝗿𝗮𝘁𝗲𝗱 𝗖𝗮𝗿𝗲: 𝗠𝘂𝗹𝘁𝗶𝗱𝗶𝘀𝗰𝗶𝗽𝗹𝗶𝗻𝗮𝗿𝘆 𝗖𝗹𝗶𝗻𝗶𝗰𝘀: Teams of geneticists and neurologists provide comprehensive, personalized care. 𝗚𝗲𝗻𝗲𝘁𝗶𝗰 𝗖𝗼𝘂𝗻𝘀𝗲𝗹𝗶𝗻𝗴: Helps families understand hereditary aspects and make informed decisions. Investing in pediatric neurogenetics ensures innovative treatments and a healthier future for children. #GeneTherapy #Neurogenetics #Neurology #Pediatrics #PersonalizedMedicine #RegenerativeMedicine
Facial recognition models, particularly those incorporating pretrained foundation models (PFMs) and CosFace loss functions, significantly enhance the accuracy of diagnosing Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome, according to a study. Read the full article here ⤵️ #AlagilleSyndrome #Pediatrics #Genetics
The study aimed to evaluate the diagnostic yield and impact of targeted gene panel sequencing in a selected cohort of 124 paediatric patients with neurological disorders attending a tertiary paediatric neurology clinic in South Africa. The overall diagnostic yield was 45%, with the highest yields for neuromuscular disorders (52%) and epilepsies (41%). The study highlights the feasibility and utility of using next-generation sequencing (NGS) panels as a first-tier testing approach in resource-constrained settings like South Africa. It also emphasizes the importance of including genetic data from diverse populations when interpreting variants. The study found that knowing the genetic diagnosis allowed for treatment optimization in nearly half the cases and provided closure for the families. However, the availability of precision therapies based on the genetic diagnosis was limited in the local setting. #clinicalgenetics #clinicalgenomics #genetictesting #genomicmedicine #humangenetics #medicalgenetics #neurogenetics #neurology #pediatrics
Journal of Clinical Practice and Medical Case Report We recognize the importance of case reports in illuminating rare presentations, diagnostic challenges, innovative treatments, and unique patient experiences. Each case report is a valuable contribution to the collective understanding of medical science, providing insights that can inform clinical practice, spark further research, and ultimately improve patient care. We welcome submissions covering a wide range of medical specialties, including but not limited to: Cardiology Oncology Neurology Pediatrics Infectious Diseases Psychiatry Surgery And more! Submit your manuscript at: clinicalmedical@genepub.org For any queries WhatsApp at: +1 (438) 699-5365 #PatientCare #MedicineInTheSpotlight #ClinicalFindings #MedicalInnovation #RareCases #InfectiousDisease #CardiologyCases #OncologyCases #NeurologyCases #PediatricsCases #SurgeryCases #openaccess #submissionopen #submitmanuscript