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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people … contacted GARD, as have people who are taking part in a clinical study. Community leaders looking to help people find … does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice. …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… All times Eastern. 12:00 - 12:10 p.m. - Welcome and Introductions Co-Chairs: Ken L. Wiley Jr., Ph.D. and Marc … D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: … Bias in Algorithm Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making …
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 … of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, … genetic information, as it applies to health insurance and employment. These protections are intended to encourage …
MINC
Evaluation of whether or not all your hard work is making a difference is important.
… of identified goals. Options for format, methods, and frequency of measurements might include the following. … … include: Pre- and post-educational intervention data on genetic referrals  Pre- and post-educational intervention … in Nursing Practice Survey Instrument Scoring Manual NIH Clinical Center: Igniting Genetic and Genomic Education and …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Institute Keynote Session: What are the opportunities and challenges for ML in genomics research? Moderator: … Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. … …  … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring together …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by … Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical … UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights …
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 … been fully appreciated in their lifetimes, such as Darwin and Mendel. As the student puts the events in order, he or … cut up for the lesson. Cut around the edges of the boxes and glue them separately to 4" x 6" cards. Print out the …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… training in a combined program of maternal-fetal medicine and med genetics in collaboration with the Washington … a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and … successful completion, the graduating fellow will possess clinical competence in maternal-fetal medicine and medical …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through … (NHGRI), the NIH Deputy Director for Intramural Research, and the NIH Clinical Center. Using CCGO funds, the NIH … exome sequence data from 90 patients for his research on genetic causes of childhood growth failure.  Carsten …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics … activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … and treatments for some complex diseases, as well as new diagnostic methods. … Genetics and genomics both play roles …