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- What are single nucleotide polymorphisms (SNPs)? What are genome-wide association studies? What is pharmacogenomics? What are genome editing and CRISPR-Cas9? ...
- SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
- What is precision medicine? What is the difference between precision medicine and personalized medicine? What about pharmacogenomics? What is the Precision ...
- The RACGAP1 gene provides instructions for making the Rac GTPase-activating protein 1. This protein is one of many proteins known as Rho GTPase activating ...
- A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because ...
- The CDIN1 gene provides instructions for making a protein called the CDAN1-interacting nuclease 1. This protein likely acts as a nuclease. Nucleases cut ( ...
- To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene variants (also ...
- The KIF23 gene provides instructions for making a protein that is part of the kinesin family of proteins. Many proteins in the kinesin family are essential ...
- No; only a small percentage of variants cause genetic disorders—most have no impact on health or development. For example, some variants alter a gene's DNA ...
- The KLF1 gene provides instructions for making a protein that acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and ...
