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Whole-genome sequencing in medicine: New knowledge, new responsibilities
(Karl-Ludwig Poggemann/Wikimedia Commons) Recently, in the hospital cafeteria, I overheard a group of researchers discussing the upcoming availability of whole-genome sequencing to physicians. “We...
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Cold case: Hospital DNA sequencing program open for business
Mary Elizabeth Stone and her son John, with genetic counselor Meghan Connolly and Pankaj Agrawal, principal investigator of the Gene Discovery Core. (Courtesy ME Stone) Sequencing a patient’s genome to...
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Three families, three mysteries: Results soon to come from genomic challenge
Liam Burns died 12 days after birth from an unexplained set of heart defects. His parents hope the CLARITY challenge will provide a meaningful explanation. One extended family has a range of...
View ArticleUsing DNA sequencing in medicine: The world starts to figure out how
It’s been more than a decade since the Human Genome Project cracked our genetic code. DNA sequencing is getting cheaper and cheaper. So why isn’t it being used every day in medicine? The truth is that...
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Personal genomics takes flight as hospitals join forces with industry
A new spinoff business will make large-scale genomic diagnostics a reality in medical practice (Image: Rosendahl) Genomic sequencing and molecular diagnostics are becoming a global business. At the...
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“Deep sequencing” finds hidden causes of brain disorders
New methods can find a mutation that strikes just 1 in 10 cells. It’s become clear that our DNA is far from identical from cell to cell and that disease-causing mutations can happen in some of our...
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Mapping mosaicism: Tracing subtle mutations in our brains
(Erik Jacobsen, Threestory Studio. Used with permission.) DNA sequences were once thought to be the same in every cell, but the story is now known to be more complicated than that. The brain is a case...
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DNA sequencing in newborns: Where do we go from here?
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the...
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Breaking down brain disease one DNA break at a time
Cells throughout the human body are constantly being damaged as a part of natural life, normal cellular processes, UV and chemical exposure and environmental factors — resulting in what are called DNA...
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