A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained death in childhood (SUDC), ...
Nov 7, 2022
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As the cost of genome and exome sequencing falls, its use in characterizing rare diseases and personalizing cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to ...
Jun 10, 2022
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"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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Acute lymphoblastic leukemia (ALL) cells from patients whose cancers did not respond to CD19-targeted CAR T therapy had gene regulation signatures that could potentially facilitate treatment resistance, according to results ...
Apr 12, 2022
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Landmark research, involving scientists at UCL, has for the first time identified ten genes with extremely rare protein-disrupting mutations, that significantly increase an individual's risk of developing schizophrenia.
Apr 6, 2022
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The prevalence of intellectual disabilities, which means difficulties with learning and understanding new things, is roughly 1-2% in the population. People with a severe intellectual disability need help from others in daily ...
Apr 19, 2021
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In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease ...
Oct 27, 2020
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Sarcomas—cancers that arise from transformed mesenchymal cells (a type of connective tissue)—are quite deadly. Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating ...
Oct 24, 2019
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A genomic strategy implemented by researchers at Baylor College of Medicine can efficiently increase the molecular diagnostic rate of undiagnosed diseases. The researchers report in the New England Journal of Medicine that ...
Jun 20, 2019
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A new kind of prenatal genetic testing can improve obstetricians' ability to diagnose the underlying causes of fetal anomalies found during prenatal ultrasounds. But the results require expert interpretation, according to ...
Jan 31, 2019
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