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Researchers in George Church&rsquo;s lab modified wild type ADK proteins (left) in <em>E.coli</em>, furnishing them with an nonstandard amino acid (nsAA) meant to biocontain the resulting bacterial strain.
A Pioneer of The Multiplex Frontier
George Church is at it again, this time using multiplex gene editing to create virus-proof cells, improve organ transplant success, and protect elephants.
A Pioneer of The Multiplex Frontier
A Pioneer of The Multiplex Frontier

George Church is at it again, this time using multiplex gene editing to create virus-proof cells, improve organ transplant success, and protect elephants.

George Church is at it again, this time using multiplex gene editing to create virus-proof cells, improve organ transplant success, and protect elephants.

rare diseases

Healthcare and medicine, Doctor touch and diagnose a virtual Human Lungs with Covid-19 or coronavirus spread inside on modern interface screen on laboratory, Innovation and Medical technology.
Uncovering Rare Disease Genetic Pathways with Global Biobanks
Deanna MacNeil, PhD | Mar 20, 2023 | 3 min read
Researchers discover new idiopathic pulmonary fibrosis risk factors with multi-ancestry analyses that increase representation of understudied populations.
Michael Green smiling at the camera in front of a shelf in the lab
Molecular Biologist Michael Green Dies at 69
Lisa Winter | Mar 7, 2023 | 2 min read
Beyond his achievements in academia, he also cofounded three pharmaceutical companies and filed 15 patents related to cancer therapeutics. 
An illustration of a chromosome with a yellow-colored mutation.
Unraveling Rare and Inherited Diseases with Genetic Technologies
Thermo Fisher Scientific | 1 min read
Rare genetic diseases are difficult to diagnose and characterize in the laboratory because of their heterogeneity and global scarcity.
A twisted and folded illustration of single-stranded RNA in front of a blue background.
Deficient RNA Editing Implicated in Inflammatory Disease 
Alejandra Manjarrez, PhD | Aug 5, 2022 | 3 min read
Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.
Deborah Nickerson
Genome Pioneer Deborah Nickerson Dies at 67
Amanda Heidt | Feb 9, 2022 | 3 min read
The University of Washington researcher leveraged data from the Human Genome Project to identify genes underlying various health conditions and advance precision medicine.
Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.
Sharing Scientific Ideas in Disease Genetics
Deanna MacNeil, PhD | 1 min read
Jukka Koskela shares how scientific discussion and mentorship motivate his research examining genetics and disease risk.
PATH TO TREATMENT: Marley, pictured here with her father, was diagnosed with the rare genetic condition Bachmann-Bupp syndrome a few years ago.
Doctors Treat Girl’s Genetic Disorder with Repurposed Drug
Amanda Heidt | Dec 1, 2021 | 6 min read
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.
cartoon image of a brain against a black background
Humans Can Survive Without Key Autophagy Gene
Annie Melchor | Jul 19, 2021 | 4 min read
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
&nbsp;Learn how genetics research identifies new targets for complex disease therapies.
Revealing Gene Functions in Health and Disease
The Scientist and Fortis Life Sciences | 1 min read
Understanding genetic mechanisms that alter cellular pathways.
Pharma Looks to Inflammasome Inhibitors as All-Around Therapies
Rachael Moeller Gorman | Apr 1, 2021 | 10+ min read
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.
an illustration of a DNA helix
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Kerry Grens | Jan 8, 2020 | 2 min read
A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.
sma spinal muscular atrophy zolgensma in utero fetal gene therapy smn1
Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy
Alejandra Manjarrez, PhD | Dec 11, 2019 | 4 min read
The animals lived longer and showed milder symptoms than untreated mice, although they didn’t survive as long as wildtype mice.
Contributors
The Scientist | Sep 1, 2019 | 3 min read
Meet some of the people featured in the September 2019 issue of The Scientist.
episignature epigenetics rare disease
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019 | 5 min read
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
Catherine Offord | Jan 8, 2019 | 2 min read
Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.
Award Winner
The Scientist | Oct 31, 2018 | 1 min read
Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.
Synthetic Bacteria Help Treat Phenylketonuria in Mice
Diana Kwon | Aug 17, 2018 | 2 min read
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 | 2 min read
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 | 1 min read
Alnylam’s patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.
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