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Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. The molecules that make up biological pathways … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that occur in our bodies. An example of a metabolic pathway is the process by which cells break down …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… uncovering new behavioral, neurological and developmental pathways and genes that are shared or related among species. … of dogs with sleep problems have revealed genes and pathways - and potential drug targets - to treat sleep …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… stored. Scientists use long RNA molecules to probe genomic pathways and develop new drugs, but they can be difficult to … ago, researchers are still uncovering new RNA-related pathways and RNA structures. Recent scientific advances have …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals … with known or suspected genetic diseases, including metabolic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases [clinicaltrials.gov] If …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals … read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases . If you find a clinical …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. 
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).
… and other physical problems in children who have rare metabolic conditions, or to treat children with certain …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… for drugs that target specific molecular and cellular pathways involved in disease. Pharmacogenomics may also …