Search Results
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.
… Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes … (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to … Institute.​​ ​ … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list of genetic, …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … The human genome is made … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is a collection of all the gene readouts present in a cell. There are various kinds of …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… projects. To this end, she has concentrated on developing gene-editing protocols that will provide more efficient means to … an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. This guide is provided on the in-house …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de Villena, Ph.D., at …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. …
Educational Resources
Transcription is the process of making an RNA copy of a gene sequence.
… … Transcription is the process of making an RNA copy of a gene sequence. … Cell, Cytoplasm, Deoxyribonucleic Acid (DNA), Gene, Gene Expression, Messenger RNA (mRNA), Nuclear Membrane, …
Educational Resources
Codominance is a relationship between two versions of a gene.
… … Codominance is a relationship between two versions of a gene. … Genes, Alleles, Recessive, Dominant, Family Health … of inheritance in which two versions (alleles) of the same gene are expressed separately to yield different traits in an … … Codominance is a relationship between two versions of a gene. … Educational Resources …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… Oncogene … An oncogene is a mutated gene that contributes to the development of a cancer. … … Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated gene that has the potential to cause cancer. Before an …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… Exon … An exon is the portion of a gene that codes for amino acids. … Intron, DNA Sequence, DNA … of exons and introns. … An exon is the portion of a gene that codes for amino acids. … Educational Resources …