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News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children … her neurons. At the time, no one knew. Jojo inherited the genes for GM1 gangliosidosis from her mother and father. …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting, DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … genomic mutations that can affect the ability of inherited genes to be expressed, genomic imprinting does not affect the … egg or sperm formation. Epigenetic tags on imprinted genes usually stay in place for the life of the individual. …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Expression (GTEx) project have created a new and much-anticipated data resource to help establish how … an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable … the underlying genomics of many different human tissues and cells at the same time, and promises to open new avenues …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… ), finding that it is critical in tissue regeneration and wound healing. The study found that topical treatment of … Institute (NHGRI), the National Eye Institute (NEI), and their colleagues, may help in the development of … in diabetic patients, as well as for normal wound healing and scar reduction. "This study proposes an unusual role for …
Educational Resources
A genotype is an individual's collection of genes.
… A genotype is an individual's collection of genes. … Genotype, Genes, DNA Sequence, Phenotype … at a specific location, such as CC, CT, TT. DNA sequencing and other methods can be used to determine the genotypes at … A genotype is an individual's collection of genes. …
For Patients and Families
Las pruebas genéticas usan métodos de laboratorio para estudiar sus genes. ​
… genéticas usan métodos de laboratorio para estudiar sus genes, que son las instrucciones del ADN que hereda de su … a: Diagnosticar enfermedades Identificar cambios en los genes que son responsables de una enfermedad ya diagnosticada … para ciertos individuos Identificar cambios en los genes que pudieran aumentar el riesgo de contraer una …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … another. Genomics describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of genes and their roles in inheritance - in other words, the …
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… of a gene where relevant proteins (such as RNA polymerase and transcription factors) bind to initiate transcription of …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Genomics Research Consortium will include five centers and a data coordination site. … of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help … have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups. Nearly all cases … A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate intellectual disability. They have a …