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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have struggled to know which of these … their own evidence - and expertise - for when and how genes and variants impact disease, this has also led to …
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.
… New study uses postmortem brain tissues to understand genomic differences in individuals with … that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate. The results of the findings, published in …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… patterns in prenatal blood tests warrant whole-body MRI cancer screening. … was pregnant. She and her husband, Jordan, were thrilled to start a family together soon. At 10 weeks along in her … — the presence of cancerous cells. “When she said cancer, I was in complete denial,” said Erica. “I was in the …
Talking Glossary
Dominant, as related to genetics, refers to the relationship between an observed trait and the two inherited versions of a gene related to that trait.
… Dominant, as related to genetics, refers to the relationship between an observed trait and the two inherited versions of a gene related to that trait. … Dominant, as related to genetics, refers to the relationship between an observed … Dominant, as related to genetics, refers to the relationship between an …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente.
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… Researchers have created a promising new method to accurately and, in some cases, more comprehensively … analyze and interpret DNA sequence information from cancer patients. They have developed an algorithm that sorts … genomic mutations and variations and ranks them according to their clinical and biological relevance to a patient's …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome. … X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome. Humans and most other mammals have …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( lovotibeglogene … all treatments. This is a long process and it is important to understand what happens at each step. Talk with your … in a clinical trial or a treatment If you are referred to a certain trial, you should learn about: Phases of a …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… Alleles in Cells program will first look at protein-coding genes … The National Institutes of Health is launching a program to better understand the function of every human gene and … Phase 1 of the program will focus on 1,000 protein-coding genes and serve as a pilot phase and has three goals: …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, … physicians, patients and other experts worked together to develop content for the Democratizing Education for Sickle … for patients and families who are considering gene therapy to understand the benefits and limitations of treatments so …