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An illustration of a chromosome with a yellow-colored mutation.
Unraveling Rare and Inherited Diseases with Genetic Technologies
Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.
Unraveling Rare and Inherited Diseases with Genetic Technologies
Unraveling Rare and Inherited Diseases with Genetic Technologies

Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.

Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.

Huntington's disease

Photo of Ankara Jain in his lab
Ankur Jain Explores RNA Aggregations in Neurodegenerative Disease
Hannah Thomasy, PhD | Oct 3, 2022 | 3 min read
The MIT biologist studies how RNA molecules self-assemble and the role these accumulations may play in diseases such as ALS and Huntington’s.
Infographic showing how neurodegenerative diseases have long been associated with aggregations of apparently toxic proteins
Infographic: Secret Lives of Neurodegeneration-Linked Proteins
Catherine Offord | Aug 1, 2022 | 5 min read
Maligned peptides such as the Alzheimer’s-associated amyloid precursor protein may have critical roles in the healthy brain.
Amyloid plaques on axons of neurons
The Misunderstood Proteins of Neurodegeneration
Catherine Offord | Aug 1, 2022 | 10+ min read
The normal functions of peptides that aggregate in Alzheimer’s, Parkinson’s, and Huntington’s have been largely overlooked by scientists, but some argue that they are critical for understanding the development of disease.
Explore how scientists determine the atomic structures of protein aggregates
Revolutionizing Neurodegeneration Research with Cryo-EM
The Scientist and Thermo Fisher Scientific | Feb 22, 2022 | 1 min read
Advancements in cryo-EM technology allow researchers to develop drugs and diagnostic tools for neurodegenerative diseases.
Accurately measure a neurodegeneration biomarker from blood samples
Detecting an Accessible Biomarker of Neurodegeneration
ProteinSimple, a Bio-Techne brand | Nov 4, 2021 | 1 min read
A sensitive, automated immunoassay measures neurofilament light from patient blood samples.
An illustration of a yeast cell (right) and a human neuron (left) showing the processes/features that are similar in the two
Infographic: Modeling Neurodegenerative Diseases with Yeast
Mahlon Collins | Oct 1, 2021 | 3 min read
Conservation of structures and functions between single-celled fungi and human cells allow researchers to probe the brain.
Photographs of the October 2021 issue's contributors
Contributors
The Scientist | Oct 1, 2021 | 3 min read
Meet some of the people featured in the October 2021 issue of The Scientist.
Scanning electron micrograph (SEM) of the unicellular yeast Saccharomyces cerevisiae, known as Baker's or Brewer's yeast.
Yeast Models Provide New Insights into Neurodegenerative Diseases
Mahlon Collins | Oct 1, 2021 | 10+ min read
The single-celled fungus allows researchers to study Alzheimer’s, Parkinson’s, ALS and other brain diseases with unparalleled speed and scale.
Respected Medical Geneticist Sir Peter Harper Dies at 81
Catherine Offord | Feb 2, 2021 | 4 min read
The Cardiff University researcher was famous both for his work on genetic disorders and for his documentation of the history of his field.
Michelle Gray Tracks Huntington’s in Different Brain Cells
Amanda Heidt | Oct 1, 2020 | 3 min read
The University of Alabama at Birmingham neuroscientist aims to determine which cells are most important in prompting the disease’s initiation and progression.
“Hero” Proteins May Shield Other Proteins from Harm
Emma Yasinski | Mar 19, 2020 | 3 min read
Flexible proteins appear to protect molecules from becoming denatured in extreme conditions such as heat and from clumping up, as happens in some neurodegenerative diseases.
Eat Yourself to Live: Autophagy’s Role in Health and Disease
Vikramjit Lahiri and Daniel J. Klionsky | Mar 1, 2018 | 10+ min read
New details of the molecular process by which our cells consume themselves point to therapeutic potential.
Molecule Found in Huntington’s Patients Kills Cancer Cells
Jim Daley | Feb 12, 2018 | 2 min read
Researchers were able to slow tumor growth in a mouse model of human ovarian cancer. 
CRISPR Corrects RNA-based Disease Defects
Kerry Grens | Aug 10, 2017 | 2 min read
In human cells, researchers deploy the genome editor to snip out toxic repetitive sequences.
Neurodegeneration’s Spread
Ashley P. Taylor | Aug 3, 2014 | 4 min read
Researchers show that pathogenic protein aggregates that accumulate within neurons and are a hallmark of Huntington’s disease can propagate from cell to cell.
Cysteine Aids Mice with Huntington’s
Kerry Grens | Mar 31, 2014 | 1 min read
Rodent models of Huntington’s disease show dysfunctional cysteine production, and adding the amino acid to their diets seems to relieve symptoms.  
Huntington's Disease Protects from Cancer?
Bob Grant | Apr 13, 2012 | 1 min read
Swedish researchers have discovered that patients with the neurodegenerative disorder had half the normal expected risk of developing tumors.
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