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tag rare diseases neuroscience disease medicine microbiology

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.
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. 
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.
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 three-dimensional rendered image of neuron cell network on black background.
Assembloids Unlock the Roles of Key Neurodevelopment Disease Genes
Aparna Nathan, PhD | Sep 27, 2023 | 3 min read
Brain-like tissue grown in a dish mimics critical periods for development and reveals how it can go wrong.
Journal club logo on purple background
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.
Image of a white cardboard box with a blue vertical stripe on the left side, the word “Apixaban” in blue lettering at the bottom, and a depiction of apixaban’s molecular structure in black.
Blood Thinner Ineffective for COVID-19 Patients: Study
Dan Robitzski | Nov 28, 2022 | 2 min read
A clinical trial finds that the anticoagulant apixaban, which has been prescribed to help COVID-19 patients recover, is ineffective and in rare instances dangerous.
An illustration of a pregnant women wearing a mask, surrounded by microbes
How COVID-19 Affects Pregnancy
Amanda Heidt | Aug 16, 2022 | 10 min read
Evidence thus far shows that pregnant people infected with SARS-CoV-2 are at higher risk for severe disease and death, as well as complications in their pregnancies.
Rare to the Rescue
Michael Yeaman and Victoria Jackson | May 1, 2018 | 3 min read
Rarity is a strength, not a weakness, when lessons learned from rare disease patients buoy research and development to find cures for more common diseases.

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