Most Recent

The flow of calcium and potassium ions keeps muscles contracting in the diaphragms of neonatal mice, but if a key protein receptor is missing, fatigue sets in more quickly.

0 Comments

Software that can separate signals from noise brings neuroscientists a step closer to understanding neurons’ patterns of communication.

0 Comments

Research suggests that the invasive, all-female Procambarus virginalis originated in a German aquarium back in the 1990s.

0 Comments

image: Rare Disease Geneticist: A Profile of Uta Francke

Rare Disease Geneticist: A Profile of Uta Francke

By Anna Azvolinsky | May 1, 2018

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

0 Comments

image: Rare to the Rescue

Rare to the Rescue

By Victoria Jackson and Michael Yeaman | May 1, 2018

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.

0 Comments

The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

0 Comments

When the O’Neills learned that their daughter had Sanfilippo syndrome, a devastating rare disease, they created a GoFundMe campaign that raised $2 million in less than a year.

0 Comments

image: Exome Sequencing Helps Crack Rare Disease Diagnosis

Exome Sequencing Helps Crack Rare Disease Diagnosis

By Amanda B. Keener | May 1, 2018

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

0 Comments

Crowdfunding can power investigations into diseases that would otherwise receive little attention.

0 Comments

image: Infographic: Getting Synapses Ready to Fire

Infographic: Getting Synapses Ready to Fire

By Ashley Yeager | May 1, 2018

A new study reveals more about the role of specialized Schwann cells at junctions between neurons and muscle cells.

0 Comments

Popular Now

  1. Prominent Salk Institute Scientist Inder Verma Resigns
  2. Dartmouth Professor Investigated for Sexual Misconduct Retires
  3. Theranos Leaders Indicted For Fraud
    The Nutshell Theranos Leaders Indicted For Fraud

    Federal prosecutors filed criminal charges that allege the company’s promise to revolutionize blood testing swindled investors out of hundreds of millions of dollars and put patients in danger.

  4. Probiotics Prevent Cholera in Animal Models