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News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… Liaison Branch … In the largest genomics study of clear cell endometrial cancer (CCEC) tumors to date, National Human … survival rate. "Genomic mutations that contribute to clear cell endometrial cancer can vary from one patient to … commonly diagnosed gynecological cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… that a transcription factor known as TCF1 (for T cell factor-1) is essential for the creation and persistence … TFH cells then interact with another type of white blood cell - called B cells - that actually produce the antibodies. … TCF1 deficiency causes "a severe defect" in the TFH cell response to viral infection, they concluded. "This …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully … Education Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… They published their findings February 6, 2017, in Pigment Cell and Melanoma Research . "These newly identified genes … profile associated with poor melanoma prognosis . Pigment Cell and Melanoma Research, Feb. 6, 2017. DOI: …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over … severity of SCD symptoms. "Scientists identified sickle cell anemia in 1910, but there is still much to learn about … Normal blood cells (left) and the blood cells in Sickle cell disease, which do not flow through the circulatory …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves … associated with a hereditary or genetic disorder. … Cell-free DNA testing is a laboratory method that involves … a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during …
Educational Resources
A stop codon is a trinucleotide sequence within a messenger RNA (mRNA) molecule that signals a halt to protein synthesis.
… that signals a halt to protein synthesis. … Amino Acids, Cell, Codon, Deoxyribonucleic Acid (DNA), Gene Environment … RNA (mRNA) that signals a halt to protein synthesis in the cell. There are 64 different trinucleotide codons: 61 specify …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… may be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you … a clinical trial.  …  Step 4: Preparation for stem cell collection (~90 days)  Gene therapy requires stem cells … of sickled blood cells.  …  … ​​​​​ … Step 5: Stem cell collection (~6–8 weeks)  The stem cell collection …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the … of Health. The Democratizing Education for Sickle Cell Disease Gene Therapy Project, led by Vence Bonham Jr., …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 … Heart, Lung, and Blood Institute launched the Cure Sickle Cell Initiative  to accelerate development of the most … promising of these next generation of therapies. Sickle cell disease is the most common inherited blood disorder in …