Search Results
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… NIH researchers discover gene for rare disease of excess bone tissue growth Notable accomplishments in genomic …
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… Other Cancers NIH Researchers Crack Mystery Behind Rare Bone Disorder Genetically Altered Broadly Neutralizing …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… or saved a life. He described a 16-year-old boy who had bone lesions that were very painful, yet had no diagnosis. …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… that dramatically increases the risk of developing bone cancers, breast cancer and blood cancers at an early …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… (like kidneys, heart, and liver) and/or tissues (like bone and cornea) for use as medical transplants after they …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… effects of muscle development on craniofacial and skeletal bone formation." In addition to NHGRI, study collaborators …