Public meeting: FDA Rare Disease Day 2023
FDA, January 2023
FDA will host Rare Disease Day, a virtual public meeting, on February 27, 2023, 9:00 am – 4:45 pm ET, in global observance of Rare Disease Week. This year’s theme is “Intersections with Rare Diseases – A patient focused event."
Rare Disease Day at NIH 2023
NIH, December 2022
Rare Disease Day takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Since 2011, NCATS and the NIH Clinical Center have sponsored Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.
In a first, children with rare genetic diseases get mitochondrial transplants from their mothers
M Molteni, Stat News, December 21, 2022
Mitochondrial deletion disorders, known as SLSMDs, usually manifest during the second decade of a child’s life as progressive, multisystem failures including hearing and vision loss, muscle weakness, gastrointestinal and cardiac issues, dementia, and early death. Currently, no cure exists. But in the last seven years, a group of researchers has been working on a potential treatment that takes advantage of mitochondria’s enduring capacity to slip between cellular life forms. It involves augmenting patients’ hematopoietic stem cells with healthy mitochondria donated by their mothers.
They Created a Drug for Susannah. What About Millions of Other Patients?
EC Hayden et al, NY Times, December 19, 2022
Scientists have made rapid progress in customizing drugs for ultrarare diseases. The hard part now is making such treatments on a large scale. Susannah was the first person to receive a drug designed to treat KIF1A-associated neurological disorder, or KAND, a progressive disease caused by genetic mutations that affect just 400 people in the world. In doing so, the young girl and her parents have found themselves on the edge of personalized medicine.
News and Publications
COVID-19 Infection in Patients with Humoral Immunodeficiency: A Case Series and Literature Review.
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.
Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
Circulating microRNA profiling is altered in the acute respiratory distress syndrome related to SARS-CoV-2 infection.
Garcia-Giralt Natalia, et al. Scientific reports 2022 0 0. (1) 6929
Identifying Potential Gene Defect Patterns Related to COVID-19 Based on Pharmacological and Bioinformatics Analysis for Lung Adenocarcinoma.
Lou Hongqiang, et al. International journal of general medicine 2022 0 0. 4285-4301
Artificial Intelligence Assisting the Early Detection of Active Pulmonary Tuberculosis From Chest X-Rays: A Population-Based Study.
Nijiati Mayidili et al. Frontiers in molecular biosciences 2022 9874475
TB-Net: A Tailored, Self-Attention Deep Convolutional Neural Network Design for Detection of Tuberculosis Cases From Chest X-Ray Images.
Wong Alexander et al. Frontiers in artificial intelligence 2022 5827299
Passive Immunotherapy Against SARS-CoV-2: From Plasma-Based Therapy to Single Potent Antibodies in the Race to Stay Ahead of the Variants.
Strohl William R, et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2022 0 0.
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Volozonoka Ludmila et al. Reproduction (Cambridge, England) 2022 163(6) 351-363
Association of Elevated Expression Levels of COL4A1 in Stromal Cells with an Immunosuppressive Tumor Microenvironment in Low-Grade Glioma, Pancreatic Adenocarcinoma, Skin Cutaneous Melanoma, and Stomach Adenocarcinoma.
Shin Hyo-Jae et al. Journal of personalized medicine 2022 12(4)