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tag rare diseases neuroscience genetics genomics developmental biology disease medicine

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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. 
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.
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.
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Shawna Williams | May 1, 2018 | 3 min read
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
Can Viruses in the Genome Cause Disease?
Katarina Zimmer | Jan 1, 2019 | 10+ min read
Clinical trials that target human endogenous retroviruses to treat multiple sclerosis, ALS, and other ailments are underway, but many questions remain about how these sequences may disrupt our biology.
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.
Professor Alexandra Whiteley and graduate student Autumn Matthews look at an image of a western blot on their laboratory computer.
An Ancient Viral Protein May Play a Key Role in ALS
Aditi Subramaniam, PhD | Aug 15, 2023 | 4 min read
Researchers find that UBQLN2 gene dysfunction causes a virus-like protein to accumulate in cells, which changes gene expression and may contribute to disease progression in amyotrophic lateral sclerosis (ALS).
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.

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