Search Results
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single … to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be … 30 million people in the United States; collectively, rare disorders are not so rare. Often, these disorders can cause …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, GINA, Federal …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD) was … accurate information - in both English and Spanish - about genetic and rare diseases. So far, GARD has responded to over …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… The genetic timeline lesson plan gives students an historical … The genetic timeline activity may be most effectively done at the … take two periods. Preparation Print out two copies of the Genetic Timeline boxes of discoveries. Use one as the master … Genetic Timeline Lesson Plan …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage … responsible for relatively rare, single-gene inherited disorders such as cystic fibrosis and Duchenne muscular …
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. Genetic information can be combined …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and … protocols evaluating patients with lysososmal storage disorders and prospectively studying patients and relatives … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into …
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).
… activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning About Cystic … diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. … screening and testing options are available, and, for some genetic conditions, what treatments are available. (See: …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk … Genetics is a complementary training program in the genetic basis of disease, both adult and pediatric, including …