Search Results
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… programs. … PKU is treated by limiting the amount of protein (that contains phenylalanine) in the diet. Treatment … using special medical foods as well as special low-protein foods and taking vitamins and minerals. People who …
For Teachers
Lesson plan based on an award-winning DNA from the Beginning website, an animated primer on the basics of DNA, genes and heredity.
… be 24 different combinations? #16. One gene makes one protein What did Archibald Garrod propose as the cause for … molecule that transfers hereditary information and not a protein? From the PROBLEM section: Why does adding DNA from … this finding? #21. RNA is an intermediary between DNA and protein. What is the "Central Dogma?" What is the difference …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… the second largest gene to date, which encodes the muscle protein, dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne muscular dystrophy affects … levels of dystrophin in the muscle. The dystrophin protein can be visualized by staining the muscle sample with …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… of European ancestry. Alpha-1 antitrypsin (AAT) is a protein that is made in the liver. The liver releases this protein into the bloodstream. AAT protects the lungs so they … type of phenotype test, which determines the type of AAT protein that a person has. Alpha-1 antitrypsin level test, …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… harmful variants in the CECR1 gene impede production of a protein vital to the integrity of healthy blood vessel walls. … Three of the eight detrimental variants that eliminate the protein ADA2 were shared among the first six patients. The … children with ADA2 deficiency. The primary role for ADA2 protein is as a growth factor. Data from the zebrafish model …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… sequences  that the cell reads but does not use for making protein; and material which acts as a hotspot  for your …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… Medical Center, investigating regulatory kinases of G protein-coupled receptor signaling. Before coming to NIH, … investigation include α1 antitrypsin deficiency caused by protein aggregation-inducing mutations in the SERPINA1 gene; … a 1.4 Mb duplication encompassing the peripheral myelin protein 22 gene; and Giant Axonal Neuropathy elicited by …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… starting point to predict how the variants might affect protein function and thus underlie the disease or trait. … ones that contribute to disease risk, are not in protein-coding regions. These functional variants generally …
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
… genetically modified to produce milk that contains a human protein essential for blood clotting. The hope is that someday this protein can be purified from the milk and given to humans …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.