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tag rare diseases genetics genomics disease medicine ecology

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. 
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.
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
Two sets of identical twin children sitting
Identical Twins Carry Distinctive Epigenetic Marks: Study
Chloe Tenn | Sep 30, 2021 | 2 min read
Researchers found more than 800 sites in the genome where the twins bore the same chemical tags.
An illustration shows circular red blood cells running into a yellow cholesterol blockage in a transverse section of an artery on a blue and purple background
Genetic Variant Discovered in Amish Protects from Heart Disease
Abby Olena, PhD | Dec 2, 2021 | 3 min read
Researchers link a missense mutation in the B4GALT1 gene to lower levels of LDL cholesterol and the blood clotting factor fibrinogen.
Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.
Sharing Scientific Ideas in Disease Genetics
Deanna MacNeil, PhD | Dec 2, 2022 | 1 min read
Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.
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.
episignature epigenetics rare disease
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019 | 5 min read
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.

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