Goldenhar syndrome is a rare congenital disease, affecting early fetal development. This syndrome includes malformations of varying severity, affecting different parts of the face. Its causes and modes of transmission are ...
May 4, 2023
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Cancer is an evolutionary disease. The same forces that turned dinosaurs into birds turn normal cells into cancer: genetic mutations and traits that confer a survival advantage.
May 2, 2023
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A successful gene therapy trialed at Michigan State University in dogs with an inherited eye disease is ready to be developed for clinical use in human patients with a rare condition called retinitis pigmentosa.
Apr 26, 2023
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Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult. Current predictive models are useful for interpreting those ...
Apr 21, 2023
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A new study led by researchers at The University of Texas MD Anderson Cancer Center has discovered that co-occurring mutations in three tumor suppressor genes—KEAP1, SMARCA4 and CDKN2A—are linked with poor clinical outcomes ...
Apr 17, 2023
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Mutations in our genes can lead to severe problems, like colon or liver cancer. But cancer is very complex. Mutations in the same genes can lead to different subtypes of tumors in different people. Currently, scientists don't ...
Apr 10, 2023
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Prostate cancer tumors harboring BRCA1/2 mutations are exceptionally sensitive to PARP inhibitors, while genomic alterations in other DNA damage response (DDR) genes are less responsive. To identify previously unknown genes ...
Apr 4, 2023
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Lifestyle behaviors such as eating well and exercising can be significant factors in one's overall health. But the risk of developing cancer is predominantly at the whim of an individual's genetics.
Apr 4, 2023
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A team of medical researchers affiliated with a host of institutions in the U.S. has used base editing to restore the natural production of the SMN protein in mice, effectively curing spinal muscular atrophy (SMA) in the ...
A National Institutes of Health team has identified a compound already approved by the U.S. Food and Drug Administration that keeps light-sensitive photoreceptors alive in three models of Leber congenital amaurosis type 10 ...
Mar 29, 2023
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