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News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… developed the breakthrough technique to return any adult cell to its earliest stage of development (a pluripotent stem cell) and change it into different types of cells in the body. … doors to medical advances, including generating cartilage cell tissue to repair knees, retinal cells to improve the …
Fact Sheet
Sickle cell disease resources for patients
… 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 … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… 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, …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients … develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …
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: …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved … . While there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … therapy may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you …
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.
… 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 … 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 … DNA that is naturally present in the maternal bloodstream. Cell-free DNA testing is also used for the detection and …
Educational Resources
A stop codon is a trinucleotide sequence within a messenger RNA (mRNA) molecule 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 …
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). … 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 …