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15 Ways Genomics Influences Our World

Genomics is ending diagnostic odysseys for patients with rare diseases.

… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation to …

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.

… A rare disease is generally considered to be a disease that affects … include cystic fibrosis, which affects the respiratory and digestive systems (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's Disease …

For Patients and Families

Neglected Diseases FAQ

Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.

… severe health burdens on the world's poorest people and are often overlooked by drug developers or by others … drinking water, poor sanitation, substandard housing and little or no access to health care. … Diseases are said … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …

For Patients and Families

Genetics, Disease Prevention and Treatment FAQ

Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.

… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. …

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.

… Genome-wide association studies involve scanning markers … information to develop better strategies to detect, treat and prevent the disease. Such studies are particularly useful … disease-causing problem resides. However, the associated variants themselves may not directly cause the disease. They …

15 Ways Genomics Influences Our World

Human Genomic Variation

Genomics is helping us understand what makes each of us different and what makes us the same.

… is helping us understand what makes each of us different and what makes us the same. … Did you know that at the base-pair level your genome is 99.9 percent the same as all of the humans around … today, researchers are still discovering new types of variants within human genomes. Human genomic variation is …

15 Ways Genomics Influences Our World

Genome Editing

Genomics is altering a genome with unparalleled efficiency and precision.

… Genomics is altering a genome with unparalleled efficiency and precision. … Did you know that in the 15 years since we … be to "edit" that genome - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. …

Fact Sheet

Human Genomic Variation

Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.

… to other peoples’ DNA. There are multiple types of variants in human genomes, ranging from small differences to … subset of genomic variants contributes to human health and disease. Researchers create reference human genome sequences to help detect genomic variants in each …

Fact Sheets

Genetics vs. Genomics Fact Sheet

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 … describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of …

15 Ways Genomics Influences Our World

Pharmacogenomics

Genomics is helping us choose the right medication at the right dose for each patient.

… for each patient. … Did you know that the sequence of your genome can determine how you respond to certain medications? … be possible without sequencing the genomes of many people and comparing their responses to medicines. One of the most … in the field of pharmacogenomics study how specific variants in your genome sequence influence your response to …