Search Results
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners. Without dietary treatment, … classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
… before the term "gene" had been coined. … Gregor Mendel, Genes, Human Genetics, Inheritance … Gregor Mendel was an … down from one generation to the next — namely, dominant and recessive traits. Mendel’s early experiments provided the …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.. … Deoxyribonucleic acid …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other … the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… Philip Shaw, Ph.D., a senior investigator at the Social and Behavioral Research Branch of the National Human Genome … a very solid place to start." Dr. Shaw said. Knowing which genes are associated with ADHD set the foundation for Shaw to understand how the genes act on the brain to bring about ADHD. Shaw and his team …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… … When the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute launched … investigators have made significant inroads in discovering genes underlying Mendelian conditions. In studying nearly … sequencing. The exome includes all the protein-coding genes in the genome. Proteins are the work horse of the cell, …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… third phase offers new insights into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) … and mouse genomes that appear to regulate when and where genes are turned on, and a new registry that assigns a …
Talking Glossary
LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).
… a segment of DNA (typically containing a gene or group of genes). … LOH (short for “loss of heterozygosity”) refers to … a segment of DNA (typically containing a gene or group of genes). For most parts of the genome, human cells have two … a segment of DNA (typically containing a gene or group of genes). … Talking Glossary …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… Hemoglobin types and sickle cell disease Your red blood cells contain … cell contains thousands of hemoglobin molecules. The genes in our body code for different types of hemoglobin. We … of hemoglobin A. You must inherit two variant hemoglobin genes — one for sickle hemoglobin and the other for sickle …