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News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… research that will have a direct impact on patients with genetic disorders. Ms. Iriele's summer project was to assist … around the world. "In Nigeria, there is a high rate of genetic malformations due to a high fertility rate," said Ms. … mine, that don't have the infrastructure or resources for genetic screening." This summer, Ms. Iriele focused on …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases that are disproportionately distributed by ethnicity … and interpret the non-random distribution of human genetic variation, as well as to understand human history and …
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 …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
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 …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy. …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood … Newborn genetic screening is testing performed on newborn babies to …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features. These might … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders …