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Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate … iron absorption. … Hereditary hemochromatosis (HH) is a genetic disease that alters the body's ability to regulate … the body's ability to regulate iron absorption. … Genetic Disorders
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health … broadened the traits and symptoms associated with known disorders, and offered insights into newly described … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … to treatments. … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is … involve similar genes, pathways, and phenotypes. While the genetic basis of more than 5,000 Mendelian disorders has been …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
Genetic Map … A genetic map is a type of chromosome map that shows the … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … claims of the seller. … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive … graduate program that addresses the growing need for genetic counseling services. … The accelerated discovery of … Genetics and Genomics National Organization for Rare Disorders Genetic Alliance … Introduction … Graduate Program …
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 … skills, cognition and communication.   Because most rare genetic disorders are due to a single faulty gene, gene …
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. … Genomic medicine has the … 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 …