Most Recent

image: Book Excerpt from <em>The Power of Rare</em>

Book Excerpt from The Power of Rare

By Victoria Jackson and Michael Yeaman | May 1, 2018

In chapter 4, “Building a Cure Machine,” author Victoria Jackson reveals the challenges in launching a foundation focused on funding research on a rare disease.

0 Comments

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

Popular Now

  1. Prominent Salk Institute Scientist Inder Verma Resigns
  2. Anheuser-Busch Won’t Fund Controversial NIH Alcohol Study
  3. North American Universities Increasingly Cancel Publisher Packages
  4. CRISPR Efficiency Tied to Cancer-Causing Process