Gene Therapy in One Eye Improves Vision in Both Eyes
Gene Therapy in One Eye Improves Vision in Both Eyes
It’s not clear why the patients with Leber hereditary optic neuropathy, a mitochondrial disorder that causes blindness, also experienced the modest benefits in their untreated eye.
Gene Therapy in One Eye Improves Vision in Both Eyes
Gene Therapy in One Eye Improves Vision in Both Eyes

It’s not clear why the patients with Leber hereditary optic neuropathy, a mitochondrial disorder that causes blindness, also experienced the modest benefits in their untreated eye.

It’s not clear why the patients with Leber hereditary optic neuropathy, a mitochondrial disorder that causes blindness, also experienced the modest benefits in their untreated eye.

genetic disease
Harnessing Stem Cells to Model Neurological Disorders
Harnessing Stem Cells to Model Neurological Disorders
The Scientist Creative Services Team | Apr 15, 2021
<em>The Scientist&nbsp;</em>Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist Creative Services Team | Mar 31, 2021
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
Liver Dysfunction: Causes and Mechanisms<br>
Liver Dysfunction: Causes and Mechanisms
The Scientist Creative Services Team | Dec 21, 2020
Learn about the underlying causes and mechanisms behind liver pathophysiology.
Concerns over Efficacy and Cost of Muscle Wasting Treatments
Concerns over Efficacy and Cost of Muscle Wasting Treatments
Ruth Williams | Nov 11, 2020
Two new medications for treating a rare and deadly neuromuscular disease have high prices and questionable efficacies, say scientists.
The Scientist Speaks Podcast - Episode 7
The Scientist Speaks Podcast - Episode 7
The Scientist Creative Services Team | Jul 29, 2020
Brains in the Palm of your Hand: 3D Organoid Cell Culture
Circulating Fetal Cells Sequenced for Prenatal Testing Study
Circulating Fetal Cells Sequenced for Prenatal Testing Study
Emily Makowski | Dec 10, 2019
Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.
Recent Trials for Fragile X Syndrome Offer Hope
Recent Trials for Fragile X Syndrome Offer Hope
Randi Hagerman | Sep 1, 2019
Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.
Infographic: The Genetics of Fragile X Syndrome
Infographic: The Genetics of Fragile X Syndrome
Randi Hagerman | Sep 1, 2019
Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.
Heel Prick, 1957
Heel Prick, 1957
Ashley Yeager | Jul 15, 2019
Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.
Gene Therapy Effective for Severe Combined Immunodeficiency
Gene Therapy Effective for Severe Combined Immunodeficiency
Shawna Williams | Apr 17, 2019
Researchers report they’ve found a way to restore immune function in infants with one form of “bubble boy disease.”
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&rsquo; 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.
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.
Bioethics Council: Gene-Editing Human Embryos Conditionally OK
Bioethics Council: Gene-Editing Human Embryos Conditionally OK
Shawna Williams | Jul 17, 2018
The UK-based organization encourages public debate about the issue but does not recommend immediate policy change.
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Colorblindness Study Reveals Unexpected Way to Make Blood Vessels
Ashley Yeager | May 1, 2018
Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.
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. 
Exome Sequencing Helps Crack Rare Disease Diagnosis
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Doctors Successfully Treat Rare Genetic Disorder in Utero
Doctors Successfully Treat Rare Genetic Disorder in Utero
Jim Daley | Apr 26, 2018
The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening.
Man Receives First In Vivo Gene-Editing Therapy
Man Receives First In Vivo Gene-Editing Therapy
Kerry Grens | Nov 14, 2017
The 44-year-old patient has Hunter syndrome, which doctors hope to treat using zinc finger nucleases.