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Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by … also contributes to the arms and legs appearing too long. Cardiovascular malformations are the most life threatening … characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… hundreds of ailments such as cancers, and autoimmune and cardiovascular diseases. Hence it is not surprising that the … yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to the development of a disease. Researchers don’t yet know if a change in a …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a … Genome Research Institute.​​ ​ … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… long-lasting antibodies that will defend the body against disease for years. Now, a team headed by scientists at the … factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream. TCF1 doesn't … Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in mice, we …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your health and quality of life. 
… and/or trusted friend. Write about how you feel about your disease and how it affects your life. Reflect on why you … factors. Risks of participation Check out the sickle cell disease gene therapy FAQ Cost What costs does the clinical … no longer living with some of the symptoms of sickle cell disease while others still do. You may also feel guilty about …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has … in a host of diseases, including Charcot-Marie-Tooth disease, mental disability, other neuropathies, metabolic …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that provides … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant applications … …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic Fibrosis (CF) … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … infections, and loss of salt in sweat. … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis … or 40s, or even longer. … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune … … Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells. T-cells play important roles in human …