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tag rare diseases disease medicine genetics genomics

Healthcare and medicine, Doctor touch and diagnose a virtual Human Lungs with Covid-19 or coronavirus spread inside on modern interface screen on laboratory, Innovation and Medical technology.
Uncovering Rare Disease Genetic Pathways with Global Biobanks
Deanna MacNeil, PhD | Mar 20, 2023 | 3 min read
Researchers discover new idiopathic pulmonary fibrosis risk factors with multi-ancestry analyses that increase representation of understudied populations.
Conceptual vector image of orange and white DNA and abstract yellow data points on a blue background.
Precise and Rapid Clinical Genomics Data Interpretation
Velsera | Feb 27, 2024 | 1 min read
A new approach to precision medicine efficiently and accurately associates disease biomarkers with clinical evidence. 
Abstract illustration depicting coronavirus research concept.
Curiosity and Compassion Fuel Rare Disease Research
The Scientist Staff | Jan 1, 2024 | 1 min read
Lauren Drouin shares how personal connections and scientific curiosities drive her work on gene therapy viral vectors. 
DNA molecule.
Finding DNA Tags in AAV Stacks
Mariella Bodemeier Loayza Careaga, PhD | Mar 7, 2024 | 8 min read
Ten years ago, scientists put DNA barcodes in AAV vectors, creating an approach that simplified, expedited, and streamlined AAV screening. 
Cropped view of senior man playing with puzzles
A Rare Genetic Mutation Protects Against Alzheimer's Disease
Hannah Thomasy, PhD, Drug Discovery News | Sep 17, 2023 | 4 min read
Data from a highly resilient individual guided researchers to new potential therapeutic targets.
New Strategies to Discover Human Disease Genes
New Strategies to Discover Human Disease Genes
The Scientist | Oct 16, 2023 | 2 min read
Learn how researchers across health-related fields identify and characterize disease-causing genomic variants.
An excited-looking toddler crawls towards toys while her mother watches on.
Doctors Treat a Rare Genetic Condition Before Patient Is Born
Dan Robitzski | Nov 10, 2022 | 2 min read
Thanks to continued weekly medications, a 16-month-old girl shows no symptoms of a severe genetic disease that typically kills children before they turn two.
Photo of Rosa Bacchetta, associate professor of pediatrics at Stanford University
The Future of Gene Therapy for a Rare Pediatric Autoimmune Disease
Niki Spahich, PhD | Jul 10, 2023 | 3 min read
By editing a mutated immune regulatory gene in patient cells, Rosa Bacchetta brings hope to those suffering from IPEX syndrome.
Rare Genetic Disease: Models and Mechanisms
The Scientist | Oct 1, 2019 | 1 min read
The Scientist is bringing together a panel of experts to share their research, and to highlight the challenges and advantages in utilizing specific model organisms.
Cartoon of the gut with different colored bacteria and a magnifying glass hovering over part of the gut.
Humans Rely on Gut Bacteria for an Enzyme that Prevents Jaundice
Kamal Nahas, PhD | Feb 16, 2024 | 5 min read
An absence of bilirubin-producing gut microbes may predispose individuals to some diseases, including inflammatory bowel disease.

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