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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… learned that Bertrand had a mutation in each copy of a gene called NGLY1 . Bertrand's mutations meant that he had no functioning copy of this gene, and therefore no N-glycanase 1 protein (which the gene encodes). His disorder was so rare that mutations in …
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… coupled with technologies that introduce new genes or gene changes allows us to speed up the process of selecting … coupled with technologies that introduce new genes or gene changes now allow people to speed up the ability to …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… cells. In his cancer's genome, they found mutations in a gene called FLT3 . The team then found that there was an … could be used for treating patients with mutations in this gene. Although it had originally been approved for treating … cancer by looking for specific mutations in the EGFR gene over time. Liquid biopsies can point to who will …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… that this was due to genomic variants in the HLA-B gene . Not surprisingly, this gene helps control the immune response. As a result of their … response to the medicine and a variant in the CYP2D6 gene. However, this finding did not appear to be true in a …
News Release
ENCODE program directors in the Division of Genome Sciences turned to Reddit to answer questions from the Reddit community.
… these sequences are so conserved. - Nadav CRISPR-Cas9, a gene editing tool which can be programmed to target specific … immortalized cell lines. However, it is still hard to do gene editing directly in a physiologically relevant way in … genome - like becoming parts of other genes or adopting a gene regulatory function (instructing genes when, where and …
Outreach
The USA Science and Engineering Festival is an opportunity to take part in hands-on genetics and genomics activities.
… Tree . The CRISPR Corner Are you familiar with the term “gene editing”? Gene editing is a hot topic of discussion and has many … This activity will explain the science behind one specific gene editing tool called CRISPR-Cas9. After learning the …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… another. The same study found variations in the MC1R gene that lead to red hair were extremely rare or …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… tell parents and appropriately mature patients about any gene variants related to the patient's disorder - even when the potential significance of the particular gene variant is unknown. They also must disclose the discovery of unexpected, secondary gene-linked conditions for which treatment exists, the …
Outreach
A list of high quality educational activities to engage students on DNA Day.
… a playful animation about the genome and environment. The Gene: An Intimate History from PBS, Ken Burns in the …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… be whether a research participant possesses a particular gene variant under study. IFs are a subset of IRRs-- findings … investigation of the genetics of heart disease possesses a gene variant related to Alzheimer's disease. IFs are also …