The Rarest of All Diseases Are Becoming Treatable

This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.
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 ...
Medscape

World Health Assembly Adopts Rare Disease Resolution

The decision-making body of the World Health Organization (WHO) has adopted a resolution to establish a global framework to support the diagnosis and management of rare diseases and promote research ...
Newsday

Rare diseases often go undiagnosed or untreated in parts of Africa. A project seeks to change that

DAKAR, Senegal — Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. “Mariama will always be here,” she said, stepping away from ...
Rolling Out

How AI is revolutionizing rare disease diagnosis

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.
USA Today

Her 5-year-old has a severe, rare disease. There's a cure, but she can't get it.

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...