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tag rare diseases disease medicine neuroscience developmental biology

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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.
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.
Glowing red DNA on bluish background
Redesigning Medicine Using Synthetic Biology
Alison Halliday, PhD, Technology Networks | Jun 21, 2023 | 5 min read
Drawing inspiration from nature, synthetic biology offers exciting opportunities to transform the future of medicine.
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.
The Challenges of Rare-Disease Research
Jyoti Madhusoodanan | Sep 1, 2016 | 8 min read
With few resources and hesitant investors, basic scientists must rely on clinicians, patient advocates, and their own keen eye for biological connections.
Uncommonly Rare
Kerry Grens | Nov 1, 2014 | 3 min read
How one of the rarest neurodegenerative diseases could lend insight into ubiquitous neuroprotective processes
Exploring the Past, Present, and Future of Brain Organoids 
Niki Spahich, PhD | Feb 18, 2024 | 5 min read
Paola Arlotta seeks to understand the complex symphony of brain development in vitro by using organoid models.
A clinician (off screen) wearing blue gloves presses a diapered infant’s heel against a paper card to collect blood samples.
Did Researchers Really Uncover the Cause of SIDS?
Dan Robitzski | May 18, 2022 | 10 min read
An interesting but preliminary biomarker study’s reception illustrates the challenges of conducting and communicating nuanced research in the era of social media.

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