Synthetic Bacteria Help Treat Phenylketonuria in Mice
The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.
Synthetic Bacteria Help Treat Phenylketonuria in Mice
Synthetic Bacteria Help Treat Phenylketonuria in Mice

The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.

The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.

rare diseases
FDA Approves Oral Drug for Fabry Disease
FDA Approves Oral Drug for Fabry Disease
Ashley Yeager | Aug 13, 2018
The medicine increases the activity of a deficient enzyme in certain patients with the condition.
First RNAi Therapy Approved by FDA
First RNAi Therapy Approved by FDA
Kerry Grens | Aug 10, 2018
Alnylam’s patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.
Positive Trial Results for Experimental DMD Gene Therapy
Positive Trial Results for Experimental DMD Gene Therapy
Catherine Offord | Jun 20, 2018
Preliminary data from Sarepta Therapeutics has exceeded expectations, causing a surge in company stock prices this week.
In Utero Transplant in First Clinical Trial Successful
In Utero Transplant in First Clinical Trial Successful
Jim Daley | May 30, 2018
Doctors treated the fetus, who has alpha thalassemia major, with cells from her mother’s bone marrow.
New Treatments for Phenylketonuria Aim to Loosen Reins on Strict Diet
New Treatments for Phenylketonuria Aim to Loosen Reins on Strict Diet
Diana Kwon | May 29, 2018
Biotechs have developed enzyme replacements and genetically modified probiotics to treat patients with the rare metabolic disorder.
Patient Registries to Bolster Cell- and Gene-Therapy Clinical Trial Data
Patient Registries to Bolster Cell- and Gene-Therapy Clinical Trial Data
Anna Azvolinsky | May 15, 2018
As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results.  
Among the Amish, c. 1960s
Among the Amish, c. 1960s
Diana Kwon | May 1, 2018
Victor McKusick’s pioneering investigations provided insight into hereditary disorders.
Rare to the Rescue
Rare to the Rescue
Michael Yeaman, Victoria Jackson | 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.
Rare Disease Geneticist: A Profile of Uta Francke
Rare Disease Geneticist: A Profile of Uta Francke
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.