Search Results
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… in an effort to modify a gene that can cause the blood disorder beta thalassemia . The researchers only allowed the … Editing, Gene Editing, DNA Editing, Gene Therapy, Genetic Disorder, Genetic Disease, CRISPR-Cas9, CRISPR …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… reshape training of genetic counselors across the career spectrum. Currently matriculated students will be supported … reshape training of genetic counselors across the career spectrum. … reshape training of genetic counselors across the career spectrum. …
News Release
A new study examines why some people grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms as adults.
… grow out of childhood attention deficit hyperactivity disorder (ADHD), while others continue to have symptoms into … interaction." ADHD is a heritable and treatable brain disorder marked by inattention and/or … and the adult outcome of attention deficit hyperactivity disorder . PNAS , October 31, 2017. …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … Research Institute have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … NIH researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers from understanding the full spectrum of symptoms of the disorders and the associated … helped researchers find novel symptoms related to a disorder that clinicians previously missed because the …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… in individuals with attention deficit hyperactivity disorder. … the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National … reflect differences in how the brain functions, such as in autism.” Importantly, the researchers found that these …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single gene, … documenting the symptom progression of children with the disorder. That’s when she met Jojo. Over the years, Dr. …