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Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… genomic alteration. The scientists reported their results May 18, 2014, in the journal Nature Medicine . Their … (NHGRI), and the National Cancer Institute, both part of the National Institutes of Health, in addition to other organizations. Investigators … New approach to analyzing tumor genome promises expanded results …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of … enzyme assay is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce … Thalassemia is actually a group of inherited diseases of the blood that affect a person's … of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who inherits two …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and … with regulations that protect the rights and welfare of the participants, and require that researchers clarify the benefits and risks of participating in the research. … NIH, is subject to the Federal Policy for the Protection of Human Research Subjects, or 'Common Rule' ( Code of …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… Frequently Asked Questions  Will I receive the results of my evaluations? Yes. The results of your evaluations will be shared with you as soon as they … A study exploring how prenatal blood test results for the baby might also detect cancer in the mother. …  The purpose of the IDENTIFY study is to identify the reason for each …
News Release
The TCGA network describes uterine and bile duct cancer.
… and NHGRI, has greatly improved our understanding of the molecular signatures underlying different cancers - … The Molecular Characteristics of Breast Cancer The TCGA data, more than two petabytes in … cause the uncontrolled cell growth that is the hallmark of malignant tumors. Last month, two publications from the …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
… environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment. … Gene–environment interaction refers to the interplay of genes (and, more broadly, genome function) and the … environment. These interactions influence the expression of phenotypes. For example, most human traits and diseases …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… regulations may not require informed consent for all kinds of genomics research (e.g., if the samples or data are de-identified); however, there may be other policy or ethical reasons for conveying that such research … informed consent. According to the current definition of "human subject" in the Common Rule, informed consent is …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
… A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. … A missense mutation is a DNA change that results in different amino acids being encoded at a … protein. Some missense mutations alter the function of the resulting protein. …