Stephen Warren, Icon of Fragile X Research, Dies at 67
Stephen Warren, Icon of Fragile X Research, Dies at 67
He famously identified the genetic mutation that causes the condition in 1991.
Stephen Warren, Icon of Fragile X Research, Dies at 67
Stephen Warren, Icon of Fragile X Research, Dies at 67

He famously identified the genetic mutation that causes the condition in 1991.

He famously identified the genetic mutation that causes the condition in 1991.

genetic disease
Antisense Oligonucleotides Cross Rodents’ Blood-Brain Barrier
Antisense Oligonucleotides Cross Rodents’ Blood-Brain Barrier
Abby Olena | Aug 18, 2021
RNA-DNA complexes that were modified with cholesterol made it into the brains of rats and mice, where they knocked down target genes.
Humans Can Survive Without Key Autophagy Gene
Humans Can Survive Without Key Autophagy Gene
Annie Melchor | Jul 19, 2021
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
Gene Therapy in One Eye Improves Vision in Both Eyes
Gene Therapy in One Eye Improves Vision in Both Eyes
Abby Olena | Dec 11, 2020
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.
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.
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’ 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.