Having inherited two different alleles (alternate versions of a gene or DNA sequence), one from each parent.
When referring to genetic disorders, a heterozygote is usually someone who has one disease and one non-disease allele.
Menopause occurs an average of nine years earlier in women with two copies of a variant of the CCDC201 gene...
A clinical trial for a CRISPR-based therapy for high-cholesterol has been suspended after a participant developed unforeseen side effects...
A 'NICER' way to edit the genome has been discovered by scientists...
A technique commonly used to amplify minute quantities of DNA to allow genetic testing of early human embryos has been shown to be error-prone. Potentially harmful unintended mutations in genome-edited embryos were also found...
A novel gene therapy which uses base-editing to lower cholesterol has been given to the first patient in a clinical trial...
A link between inflammation and specific genetic mutations in Parkinson's patients has been established according to a new study...
For the first time, scientists from Stanford University, California, have combined CRISPR genome editing with a stem cell system to model how a genetic mutation might affect heart disease risk...
The idea of a rare disease informing wider knowledge about fundamentals of biology is now well established. We have shown it in alkaptonuria research, as alkaptonuria (which affects around 80 people in the UK) is an extreme form of osteoarthritis (which affects more than eight million)...
A study has linked mutations in three genes with the severe pregnancy condition, pre-eclampsia. The international research team say they're the first to link genetic mutations and pre-eclampsia in women with the autoimmune disorder lupus...
Channel 4, Monday 2 November 2009...
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