rare diseases

Michael Green smiling at the camera in front of a shelf in the lab

Molecular Biologist Michael Green Dies at 69

Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.

Sharing Scientific Ideas in Disease Genetics

A twisted and folded illustration of single-stranded RNA in front of a blue background.

Deficient RNA Editing Implicated in Inflammatory Disease 

 Learn how genetics research identifies new targets for complex disease therapies.

Revealing Gene Functions in Health and Disease

Deborah Nickerson

Genome Pioneer Deborah Nickerson Dies at 67

PATH TO TREATMENT: Marley, pictured here with her father, was diagnosed with the rare genetic condition Bachmann-Bupp syndrome a few years ago.

Doctors Treat Girl’s Genetic Disorder with Repurposed Drug

cartoon image of a brain against a black background

Humans Can Survive Without Key Autophagy Gene

Pharma Looks to Inflammasome Inhibitors as All-Around Therapies

an illustration of a DNA helix

Clinical Exome Sequencing Tests Are Frequently Incomplete: Study

sma spinal muscular atrophy zolgensma in utero fetal gene therapy smn1

Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy

Contributors

episignature epigenetics rare disease

Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases

Trending

Photo of John Calhoun crouches within his rodent utopia-turned-dystopia

Universe 25 Experiment

A close-up image of a fly landing on a dessert

What Happens When a Fly Lands on Your Food? 

Red and green small tomatoes. A new genetic engineering approach helped gene-edited plants grow faster.

Gene-Edited Crops Grow Faster with a Little Help from Bacteria

Image of an infant’s feet that are visible in a hospital incubator.

Record-Breaking DNA Sequencing Technology Could Transform Newborn Care

Multimedia

Olga Anczukow and Ryan Englander discuss how transcriptome splicing affects immune system function in lung cancer.

Long-Read RNA Sequencing Reveals a Regulatory Role for Splicing in Immunotherapy Responses

Pacific Biosciences logo
Research Roundtable: The Evolving World of Spatial Biology

Research Roundtable: The Evolving World of Spatial Biology

Image of a woman with her hands across her stomach. She has a look of discomfort on her face. There is a blown up image of her stomach next to her and it has colorful butterflies and gut bacteria all swarming within the gut.
November 2025, Issue 1

Why Do We Feel Butterflies in the Stomach?

These fluttering sensations are the brain’s reaction to certain emotions, which can be amplified or soothed by the gut’s own “bugs".

View this Issue
Olga Anczukow and Ryan Englander discuss how transcriptome splicing affects immune system function in lung cancer.

Long-Read RNA Sequencing Reveals a Regulatory Role for Splicing in Immunotherapy Responses

Pacific Biosciences logo
Research Roundtable: The Evolving World of Spatial Biology

Research Roundtable: The Evolving World of Spatial Biology

Conceptual cartoon image of gene editing technology

Exploring the State of the Art in Gene Editing Techniques

Bio-Rad
Conceptual image of a doctor holding a brain puzzle, representing Alzheimer's disease diagnosis.

Simplifying Early Alzheimer’s Disease Diagnosis with Blood Testing

fujirebio logo

Products

Labvantage Logo

LabVantage Solutions Awarded $22.3 Million U.S Customs and Border Protection Contract to Deliver Next-Generation Forensic LIMS

The Scientist Placeholder Image

Evosep Unveils Open Innovation Initiative to Expand Standardization in Proteomics

OGT logo

OGT expands MRD detection capabilities with new SureSeq Myeloid MRD Plus NGS Panel