5 posts · 4,997 views
I am a writer, scientist and mother of two small boys. I left a job as a bioinformatics scientist at a Cambridge biotech to have children and went on to develop an interest in writing and editing. I write about how our genes define ourselves and what it will mean to know more about our own DNA sequences.
Last week I contributed a finger of blood to the Cambridge BioResource project. The DNA extracted from my sample will live in a 96 well plate alongside the genetic material from 10 000 other local donors. Together, we form a smorgasbord of genetically distinct volunteers from which researchers investigating human health can pick and choose. In this post I will explore science behind the resource, discuss the ethics of returning data to participants and reveal what bit of my DNA I'd really l........ Read more »
von dem Hagen EA, Passamonti L, Nutland S, Sambrook J, & Calder AJ. (2011) The serotonin transporter gene polymorphism and the effect of baseline on amygdala response to emotional faces. Neuropsychologia, 49(4), 674-80. PMID: 21167188
Deciphering developmental disorders (DDD) is an exciting new project run by the Sanger Institute in partnership with NHS genetics clinics. It aims to use sequencing and microarray analysis to diagnose children with developmental problems.I was struck by the impact a diagnosis has on the families involved and was drawn to a quote on the project’s home page from Beverly Searle, CEO of Unique (Rare Chromosome Disorder Group):Over many years I have witnessed the frustration and heartache of many f........ Read more »
Mefford, H. et al. (2008) Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes. New England Journal of Medicine, 359(16), 1685-1699. DOI: 10.1056/NEJMoa0805384
A couple of weeks ago I had the pleasure of chatting the Genomes Unzippped bloggers on the sunny terrace of the Sanger Institute. Luke Jostins let slip that his personal genomics results held a few surprises, not least that he was a carrier for cystic fibrosis (CF). He has yet to write about the results in detail, so I took the opportunity to interview him about his CF carrier status.Had you any prior indication that you may be a CF carrier?No, I have no family history of CF at all.What was........ Read more »
Dolgin E. (2011) Mutation-specific cystic fibrosis treatments on verge of approval. Nature medicine, 17(4), 396-7. PMID: 21475213
I remember my newborn son’s heel prick test as an emotional blur. His screams added to the din of the tightly packed ward as the doctor struggled to extract sufficient blood. He must have wondered what sort of world he had been born into.The short term discomfort was in his best interests as the heel prick test saves lives. Many metabolic diseases can be managed by diet and lifestyle changes but are fatal if left undetected. The benefits seem clear cut – disruption to a single gene cause qua........ Read more »
Buchbinder, M., & Timmermans, S. (2011) Medical Technologies and the Dream of the Perfect Newborn. Medical Anthropology, 30(1), 56-80. DOI: 10.1080/01459740.2010.531065
Last year there was a post on Body in Mind in response to an article published on the genetics of chronic pain. With refreshing honesty the author admitted he “was going to write a blog-post on it and then I read it and I was too intimidated by it.”
I had a look at the paper, with my molecular biology background, it wasn’t too scary. I was interested in the original blog post as it intersects many parts of my life. First my original training as a biochemist, second my curren........ Read more »
Nissenbaum J, Devor M, Seltzer Z, Gebauer M, Michaelis M, Tal M, Dorfman R, Abitbul-Yarkoni M, Lu Y, Elahipanah T.... (2010) Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2. Genome research, 20(9), 1180-90. PMID: 20688780
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