AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces
Catherine Offord | Jan 8, 2019
Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.
Award Winner
The Scientist Staff | Nov 1, 2018
Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.
Synthetic Bacteria Help Treat Phenylketonuria in Mice
Diana Kwon | Aug 17, 2018
The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.
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
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
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
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
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
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.