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Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… to a severe type that causes death before or shortly after birth. In addition to having fractures, people with OI also … 1 in 20,000 individuals, including people diagnosed after birth. OI occurs with equal frequency among males and females … bones that appear bent or crumpled and fractured before birth. Their chest is narrow and they have fractured and …
News Release
DNA Day Reddit “Ask Me Anything” prompts rousing discussion.
… of using CRISPR to modify an embryo resulting in a live birth, the only documented case is the recent revelation of …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… human conditions - are pregnancy and preterm birth, onset of inflammatory bowel disease and onset of type … $24.2 million to date, include: Pregnancy and Preterm Birth. The "Multi-omic Microbiome study: Pregnancy … and host responses during pregnancy, including preterm birth, labor and delivery, as well as acquisition of …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… of progression of HD or correct or replace other metabolic defects contributing to the development and progression of …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… breast cancer, liver disease, autoimmune disease, stroke, birth defects and neurodevelopmental disorders. They hope this …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… "This day is right up there with my wedding day and the birth of my kids," Tifft said. Waking up to a second chance … Children could have their genes tested in the womb or at birth. With one dose of the gene therapy, they could avoid a …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… "Poland syndrome," it is an uncommon condition present at birth (congenital). For people born with PA, the breastbone … the body. … Poland anomaly can be detected as early as birth and as late as adolescence, depending on how severe it …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… be further separated into at least six subtypes, caused by defects in different genes. … The newly discovered GARS gene …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… emotionally, psychologically and financially for post-birth challenges. Women with higher genomic literacy wanted …