Search Results
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher disease, severe medical … more slowly progressive disease process and the extent of brain involvement is quite variable. They usually have …
File
… 1041-1051 60% 40% Potential Impact of Fetal Treatment on Brain Development and Cognition in DS Start Treatment Brain Development Gestational Age Integrated Human-Murine … Step III: Dysregulated Signaling Pathways E15.5 brain Ts1Cje, Ts65Dn, Dp16Mouse models of DS Mouse Embryos …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Mar. 7, 2014, from 8-9 a.m. … "Patients suffering from brain diseases - including bipolar disease, major depression, …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… million people living in tropical regions. It can cause brain damage or death if red blood cells infected with malaria parasites build up in the brain's blood vessels. The annual death toll is about 1 …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… body. In Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can … several of the body's systems. Either the liver or the brain can be harmed first, with signs as early as 4 years, or …
Funding Opportunities
The NHGRI Genomic Innovator Awards support highly innovative work by early career genomics investigators who are part of consortia or other team-science efforts. All awardees work on critical, emerging topics in genomics. These awards recognize creative endeavors with great potential to accelerate future genomics research.
… 11 awardees who are researching CRISPR technologies, brain-related disorders, single-cell genomics, precision …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… focus on the effects of infection and inflammation on brain development and harnessing this knowledge to optimize … LJ, et al. Retinal nerve fiber layer is associated with brain atrophy in multiple sclerosis . Neurology . 2007 Oct …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… Biomarkers, Disorders of the Gut and Disorders of the Brain Naomi Wray, Oxford University 2:00 p.m.  Major Genes …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… . This fatal disease, caused by abnormal proteins in the brain called prions, makes the brain start functioning abnormally, with symptoms that …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… data from different racial/ethnic groups, and examine how brain images and other biomarkers are associated with genome … will examine whether CNVs influence memory performance, brain images and other biomarkers of Alzheimer's disease. …