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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.
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 …
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 …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… that cause physical malformations, developmental delay and metabolic diseases. Comparing the genome sequences of …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… happens, it makes sense that we would target our bodies' pathways involved in changing the medicine's form or in …