Search Results
Event
NHGRI hosts a virtual Q&A with science journalist Angela Saini, author of “Superior: The Return of Race Science” on Thursday, July 23, 2020.
… National Geographic, and Wired. She has won a number of national and international journalism awards. … “Superior” tells the disturbing story of the persistent thread of belief in biological racial differences in the world of … journalist Angela Saini released her book, Superior: The Return of Race Science . Superior tells the disturbing story …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
… Cristina Kapustij, M.S., is chief of the Policy and Program Analysis Branch at the National Human … the branch’s efforts to understand the policy implications of genomics research and technologies, assess policy needs … Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National …
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
… Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome … NHGRI programmatic policies, and promotes understanding of Human Subjects Research Regulations. Ms. Ghanaim graduated …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
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 …