Most Recent

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: Rare Disease by the Numbers

Infographic: Rare Disease by the Numbers

By The Scientist Staff | May 1, 2018

How rare conditions and research spending on them compare with more common diseases.

0 Comments

image: Slow March Toward a Canavan Cure

Slow March Toward a Canavan Cure

By Ashley Yeager | May 1, 2018

Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.

0 Comments

Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.

0 Comments

DNA from a relative of the suspect submitted to the site GEDmatch gave investigators just enough information to identify him, but the process raises privacy concerns.

1 Comment

image: Preterm Labor May Be Sparked by Fetal Immune Reaction

Preterm Labor May Be Sparked by Fetal Immune Reaction

By Ruth Williams | April 25, 2018

Immune cells targeting maternal antigens are abundant in the blood of premature infants, suggesting fetal intolerance of mom may instigate early labor.  

0 Comments

Researchers used the genome sequence of Artemisia annua to boost the plant’s production of artemisinin.

0 Comments

Popular Now

  1. Two University of Rochester Professors Resign in Protest
  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. Koko the Signing Gorilla Dies at 46