Humans Can Survive Without Key Autophagy Gene
Humans Can Survive Without Key Autophagy Gene
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
Humans Can Survive Without Key Autophagy Gene
Humans Can Survive Without Key Autophagy Gene

Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.

Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.

rare diseases
Pharma Looks to Inflammasome Inhibitors as All-Around Therapies
Pharma Looks to Inflammasome Inhibitors as All-Around Therapies
Rachael Moeller Gorman | Apr 1, 2021
Many major biopharmaceutical companies are developing or acquiring drugs that target the NLRP3 inflammasome, a large intracellular complex that researchers say can spark inflammation and stoke diseases of lifestyle and aging.
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Kerry Grens | Jan 8, 2020
A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.
Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy
Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy
Alejandra Manjarrez | Dec 11, 2019
The animals lived longer and showed milder symptoms than untreated mice, although they didn’t survive as long as wildtype mice.
Contributors
Contributors
The Scientist Staff | Sep 1, 2019
Meet some of the people featured in the September 2019 issue of The Scientist.
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.
AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces
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.
Award Winner
Award Winner
The Scientist Staff | Oct 31, 2018
Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.
Synthetic Bacteria Help Treat Phenylketonuria in Mice
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
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.  
Researchers Turn to Implantable Robots to Regenerate Tissue
Researchers Turn to Implantable Robots to Regenerate Tissue
Shawna Williams | May 1, 2018
The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.
Copper Connections
Copper Connections
Jim Daley | May 1, 2018
Researchers initially set out to investigate the relationship between copper homeostasis and the rare Menkes disease, but they also found links to Parkinson’s.
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. 
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.
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.