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tag rare diseases disease medicine neuroscience genetics genomics

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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.
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.
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. 
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.
A false color transmission electron microscope micrograph showing the nuclear envelope, the rough endoplasmic reticulum, the nucleus, and the cytoplasm.
New Gene Mutants Identified in Rare Motor Neuron Diseases
Clare Watson | Oct 17, 2022 | 2 min read
The discovery of gene variants in cases of hereditary spastic dysplasia could provide a diagnosis to affected families where no genetic cause could be found before.
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.
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The Scientist's Journal Club: Transcriptomics
The Scientist | Sep 20, 2023 | 2 min read
Scientists discuss their latest findings on immune cell dynamics, neurodegenerative disease risk factors, and rare cell types obtained from bulk and single cell RNA sequencing experiments.
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.

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