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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and phenotypes, gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an autosomal recessive … Type I spinal muscular atrophy (called Werdnig-Hoffman disease) is another severe form of SMA. Symptoms of type 1 … walk without help. Type III SMA (called Kugelberg-Welander disease or juvenile type) is a milder form of SMA than types …
Genomics and Medicine
The categories for the notable accomplishments of research are defined as research that uses genomics to generate or study.
… outcomes (e.g., acceptability, cost, feasibility, etc.). Risk Assessment/Prediction How a person’s genes can be used to estimate their risk to develop a disease or condition. Pharmacogenomics How a person’s genetic … Use of genomics to identify the etiology of unexplained disease. Gene-Disease Validation Definitive evidence …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… genetic disorder. The results help to determine a person’s risk of developing the specific disorder being tested for. … your ancestry, kinship, lifestyle factors and potential disease risk. … Forensic testing is carried out for legal … ways to spell out specific instructions. … A genetic disease is caused by a change in the DNA sequence. Some …
Health
Guidance on collecting your family health history information before visiting the doctor.
… your doctor predict the disorders to which you may be at risk, and help you take action to keep you and your family … … Related Content … Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases. … FamiliesSHARE … Family Health History …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… basic genetic and genomic concepts. Cancer: Breast cancer risk assessment in an African American female: Grace Male … with lung cancer: Tom  Cardiovascular: Cardiovascular disease and diabetes risk in an adult Native American female: … Genetics and Rare Diseases Information Center (GARD) Disease InfoSearch: The Genetic Alliance  Cancer National …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… in the lab. … Genomic principles form the foundation for disease pathophysiology Genomics underlies all diseases  … recommendations for annual MRI with elevated breast cancer risk) . Genomics affects pharmacokinetics and … care.  Nurses obtain and analyze data from physical assessments, individual and family histories, laboratory …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… health definition) (AACN, 2021). … When designing learning assessments, nurse educators should consider the purpose of … cancer genetic clinical education (case-based modules), risk assessment screening toolkit (cancer specific), and … interview patients and make recommendations. Centers for Disease Control and Prevention (CDC) Family history case …
MINC
Establishing stakeholder partnerships paves the way for developing an action plan for your clinical setting.
… Telling Stories Texas Health Presbyterian: Cardiovascular Disease Genomics to Health Texas Health Presbyterian: DNA …
MINC
Genomics is relevant to the practice of all nurses.
… muscle biopsy done which was highly suggestive of a rare disease called Myotonic Dystrophy Type 2. It was recommended … in Personalized Medicine DNA Interactive Fox Chase PA: Risk Assessment Program Genetics/Genomics Competency Center …