A rare condition left a Houston student with seizures and psychosis. Why was her 'brain on fire?'

A Texas college student spent months suffering from unexplained seizures and psychosis before UTHealth Houston doctors determined she had a rare condition.

Woman, 21, Might Lose Her Bladder After Doctors Continuously Misdiagnosed Her Rare Condition: 'Things Are Getting Worse and Worse'

Caris Gibson was ultimately diagnosed with Fowler’s syndrome, a rare condition that affects the urethra ...

Stone baby: The rare condition that produces a calcified fetus

For some women, pregnancy is a time of profound loss. Not all pregnancies progress as expected. One serious complication is ectopic pregnancy, a condition in which a fertilized egg implants somewhere ...
The Economist

Treatment of a teenager with an ultra-rare condition is a medical milestone

Ultra-rare disorders are those affecting fewer than one person in 50,000. Sometimes, indeed, they are unique. And unique ...
STAT

‘Where’s our CRISPR miracle?’

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...

Rare diseases affect 1 in 20 Indians: Scientist explains why awareness is the first cure

Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...

The Rare Condition That Gives Some Dogs Almost No Neck and a Shortened Spine

It’s easy to feel sorry for the dogs in this Instagram clip who clearly have a major physical deformity. But, before jumping to conclusions, check out the positive caption. Then, read our analysis of ...
Yahoo

35 Rare Medical Conditions That Sound Very Fake, But Are Actually Very Real

Note: Some submissions are from this Reddit thread. 1. "Pentalogy of Cantrell, which is when the heart is outside of the chest because the sternum has not fused. I'd seen it before with just a bit of ...
MM&M

Pediatric rare diseases are often underdiagnosed. GeneDx wants to change that.

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

Rare cranial disorders: Towards a non-invasive therapy using gene silencing delivered by nanoparticles and 3D printing

A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an ...
STAT

Parents of children with rare diseases ask: How long until our CRISPR miracle?

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

Stone baby: the rare condition that produces a calcified foetus

This rare condition occurs when an abdominal pregnancy ends and the body calcifies foetal remains as a protective response.