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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
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… to lead to better ways of using drugs to manage heart disease, cancer, asthma, depression and many other common … problem can cause severe side effects and increase risk of infection, unless the standard dose is adjusted … screening for chemicals with broad action against a disease. Researchers are now using genomic information to …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Individuals with Down syndrome also have an increased risk for having heart defects, digestive problems such as gastroesophageal reflux or celiac disease, and hearing loss. Some people who have Down syndrome … this type of balanced translocation are at an increased risk of having children with the condition. Additional …
MINC
Anticipating obstacles and challenges can help you plan strategies and methods for addressing them before they cause you a bottleneck in your progress.
Healthcare Provider Genomics Education Resource
Discipline-specific genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic healthcare. Competency-based healthcare education is an outcomes-based approach that uses competencies to organize and structure curricula and continuing education.
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… what dosage is most appropriate and if a patient is at risk for an adverse reaction.  Pharmacogenomics is part of … be most effective for that patient while minimizing the risk of an adverse reaction. … Who may benefit from … genomic variant in the HLA-B  gene are at a higher risk for a severe allergic reaction to abacavir , which is …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
For Health Professionals
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) aims to improve genomic literacy of healthcare providers and enhance the effective practice of genomics-informed healthcare by facilitating interactions among the key stakeholders in genomics education.
… video about the ISCC-PEG. Courtesy of the ISCC-PEG Rare Disease Project Group  Download the ISCC-PEG Poster  (PDF) … and complete supplemental educational activities; includes assessments and a genomic expert commentary. ISCC has …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… freckling and Lisch nodules pose minimal or no health risk to a person. Though neurofibromas are generally a … members are taken to track the chromosome that carry the disease-causing gene through two or more generations. Linkage … either NF1 or NF2, there are ways to treat the effects the disease. Surgery may be helpful in removing tumors, though …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… because it blocks blood vessels and increases a person's risk of heart disease.  "This study is important because it shows that … to find gene variations associated with a particular disease. The bigger the study group, the more genomic markers …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… certain skin problems, neurological signs, heart valve disease and certain autoimmune diseases have also been noted … vein, or jugular vein), and abdominal or pelvic veins. A risk of recurrent thrombi is associated with APS as well. … with cognitive dysfunction is growing. Heart Valve Disease A type of heart valve disease called Libman-Sacks …