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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 … probability that two loci (e.g., a disease-associated gene and another sequence of interest, such as a variant or … another gene) are located near each other on a chromosome and are therefore likely to be inherited together. …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The … patient, then 3 years old, experienced fevers, skin rash and strokes that left her severely disabled. Because there … the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive medication. …
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.
… Gregor Mendel, Genes, Human Genetics, Inheritance … down from one generation to the next — namely, dominant and recessive traits. Mendel’s early experiments provided the …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about … her research investigating primate social behavior and autism genetics, as well as evaluating methods of public … In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with …
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 …
Fact Sheet
Sickle cell disease resources for patients
… About Sickle Cell Disease Centers for Disease Control and Prevention Sickle Cell Disease American Society of … Gene Therapy and Sickle Cell Disease (video) American Society of Gene & … What’s the Difference Between Gene Therapy, Cell Therapy and Gene Editing? (video) American Society of Gene & Cell …
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 the Centers for Mendelian … are an estimated 7,300 such conditions, which are rare and usually inherited, and typically caused by a mutation in … investigators have made significant inroads in discovering genes underlying Mendelian conditions. In studying nearly …
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 … added millions of candidate DNA “switches” from the human 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). … 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). …