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Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … to kidney failure. … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic … individuals who are 60 years old or older. There are two genes known to be associated with ADKPD. PKD1 is found in …
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
… and cell types. The RNA and protein products of many genes serve to regulate the expression of other genes. Where, when, and how much a gene is expressed can also …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … 13 million people, mostly in Latin America. Hookworm. Human hookworm infection is caused by intestinal worm … administered by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, … those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of … individual." Identifying autoimmune disease susceptibility genes can be a challenge because in most cases a complex mix …
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.
… Wilson disease is a rare genetic condition that causes a person's … can lead to organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. Wilson disease causes a person's body to store too much of the …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research … part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … Together, the CCDG and CMG programs aim to discover the genes and genomic variants - spelling differences in DNA - …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … recessive manner. Normally, a person has two copies of the genes that provide instructions for making the enzyme, … conducted at the Medical Genetics Branch of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National … and to be curative at the DNA level by altering the genes that play a role in sickle cell disease. “The number of …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … This genetic material comes in individual units called genes. We all have thousands of genes. Genes carry the …