Search Results
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… fails to divide and form the right and left halves of the brain. … Holoprosencephaly, Developmental Disorder, Birth … fails to divide and form the right and left halves of the brain. The disorder produces a single-lobed brain structure and severe skull and facial abnormalities. …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… is a relatively common birth defect of the brain, which often can also affect facial features, including … (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, including … of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… Jeannine Mjoseth … Cancerous tumors are voracious. Once they have consumed all the oxygen … trials are focused on targeting genetic changes in tumors and helping to boost one's immune system to fight the …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… how the cell’s recycling system contributes to a healthy brain. … Researchers at the National Institutes of Health … child had abnormalities in the cerebellum, the part of the brain involved in complex movement among other functions. … neurons. The first inclination of ATG4D ’s effects on brain health came from a 2015 study in which researchers …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… an aggressive tumor - neither of which are ideal. … How tumors differ from each other - either in different organs or … to the patient's specific tumor. A massive new analysis of tumors, published online April 17 in Epigenetics & Chromatin, … ignored among other issues." Researchers have found that tumors with CIMP are linked to different outcomes for …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… cancer. We identified the first gene to cause carcinoid tumors in one family we studied. What was truly exciting was … the high-risk genetic variant, diagnose and remove their tumors at a very early stage, and thus save their lives.  It … predict individuals at very high risk of carcinoid tumors. As one of the first in her family to go to college, …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… the inhibitor developed significantly fewer metastatic tumors than control mice that had not been treated. Some …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… genomic diversity of prostate cancers  (2015)  Peering at brain and skin cancers through a genomic lens, scientists … Cancer Genome Atlas Identifies Distinct Subtypes of Deadly Brain Cancer That May Lead to New Treatment Strategies … Reports First Results of Comprehensive Study of Brain Tumors  (2008)  The Cancer Genome Atlas Awards Funds for …
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.
… for different functions in muscles, bones and the brain, and each of these cells carries essentially the same … of cancer, or to a failure of the immune system to destroy tumors. In a type of brain tumor called glioblastoma, doctors have had some …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other patients had mutations …