Ricki Lewis

Next month, families affected by the rare genetic disease metachromatic leukodystrophy (MLD) will meet in Washington. They will be protesting the April 4 dissolution of the committee of experts that advises Health and Human Services (HHS) leadership on which conditions to include on the Recommended Uniform Screening Panel, aka the RUSP.

The List
RUSP is a state-by-state roster of up to 61 "actionable" metabolic conditions. If they are detected shortly after birth with a few drops of blood from the heel, treatment is possible. But it must begin ASAP.

To continue reading, go to DNA Science, where this post first appeared.

In these days of the never-ending pandemic, other health problems continue to take a backseat. That's especially true for the 7,000 or so rare diseases that collectively affect only one in ten people, while the number of COVID fatalities in the US nears the million mark. 

Although some clinical trials for rare disease treatments have stalled, they'll resume once COVID settles into some version of endemicity. More than 60 cell and gene therapy FDA approvals are expected by 2030, according to the Massachusetts Institute of Technology's New Drug Delivery Paradigms Initiative. They range from RNA-based drugs to gene therapies to CRISPR fixes.

Rare diseases tend to strike the youngest. Clinicaltrials.gov hints at what's to come.

CRISPR is tackling sickle cell disease and thalassemia, while antisense technology is being tried for Duchenne muscular dystrophy. Searching for "gene therapy" brings up 5000 hits for this older approach, many targeting childhood diseases.

To continue reading, go to Genetic Literacy Project, where this post first appeared.