Heel Prick, 1957
Heel Prick, 1957
Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.
Heel Prick, 1957
Heel Prick, 1957

Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.

Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.

genetic disease
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.
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. 
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.
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.