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tag rare diseases microbiology 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.
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. 
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.
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.
Haydeh Payami is wearing a purple dress and an orange and pink scarf and standing in front of a whiteboard.
A Microbial Link to Parkinson’s Disease
Mariella Bodemeier Loayza Careaga, PhD | Dec 4, 2023 | 6 min read
Haydeh Payami helped uncover the genetic basis of Parkinson’s disease. Now, she hopes to find new ways to treat the disease by studying the gut microbiome.
Ribbon diagram of the protein coat of an adeno-associated virus
Preprints Propose Constellation of Causes for Kids’ Liver Disease
Christie Wilcox, PhD | Jul 25, 2022 | 2 min read
Two independent groups suggest the suite of recent unexplained hepatitis cases may stem from coinfection with an adeno-associated virus and a helper adeno- or herpesvirus, a duo which may be especially virulent in children with a particular genetic variant.
A twisted and folded illustration of single-stranded RNA in front of a blue background.
Deficient RNA Editing Implicated in Inflammatory Disease 
Alejandra Manjarrez, PhD | Aug 5, 2022 | 3 min read
Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.
Glass mosaic with the image of two people. The bodies are arbitrarily crossed by lines that divide them into amorphous fractions, some of them colored.
Noninherited Genetic Mutations Link to Schizophrenia
Alejandra Manjarrez, PhD | Jul 20, 2023 | 2 min read
By studying the genomes of more than 24,000 individuals, researchers discovered rare genetic mutations that may shed light on mechanisms underlying schizophrenia.
The Genetic Components of Rare Diseases
Kelly Rae Chi | Jul 1, 2016 | 9 min read
Techniques for determining which genes or genetic variants are truly detrimental

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