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Fact Sheets

Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.

Fact Sheets

Fluorescence In Situ Hybridization Fact Sheet

Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.

Genetic Disorders

About Down Syndrome

Down syndrome is a chromosomal condition related to chromosome 21.

… can be diagnosed in infancy based on the characteristic clinical findings. When Down syndrome is suspected in a … normal course of development, causing the characteristic clinical features of Down syndrome. Some people who have Down … the condition. Additional Resources for Down Syndrome The Genetics Home Reference: Down Syndrome National Institute of …

For Patients and Families

Undiagnosed Condition in a Child FAQ

A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

… health care team. … Participating in a research study or clinical trial can at times be another option when searching … with the goal of making a diagnosis. Alternatively, clinical trials or studies may be looking at the … the ClinicalTrials.gov identifier. … A consultation at a genetics service with a genetics professional can sometimes …

For Patients and Families

An Undiagnosed Condition in an Adult FAQ

An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.

… on the team. … Participating in a research study or clinical trial can at times be another option when searching … individuals to make a diagnosis. Alternatively, clinical trials or studies may be looking at the … the ClinicalTrials.gov identifier. … A consultation at a genetics service with a genetics professional can sometimes …

For Teachers

Your Genome & You Infographic

The Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our lives.

… Your Genome & You infographic introduces the basics of genetics and genomics, and how the science impacts our … and Engagement in Genomics. To find out more about genetics and genomics, visit www.genome.gov. … What is it? … Life Genes in Life is a place to learn about all the ways genetics is a part of your life. On this site you will learn …

Fact Sheets

Genome-Wide Association Studies Fact Sheet

Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease.

For Patients and Families

Rare Diseases FAQ

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.

… run in families. It is important to keep in mind that genetics are just one piece of the puzzle. Environmental …

Fact Sheets

Newborn Screening Fact Sheet

Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.

… medical tests, increasing the possibilities for its clinical application. One potential use for genome sequencing … a genome sequence from birth useful for that individual's clinical care? What if the genome sequence reveals …

For Patients and Families

Pharmacogenomics FAQ

Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.

… called selective serotonin re-uptake inhibitors (SSRIs). Clinical trials are now underway to learn whether genetic …