Biologists working at the University of North Carolina are working on an innovative gene therapy method aimed at curing a medical disorder that can affect babies. This involves mending mutations in the brains of fetuses while still in the womb. The disorder is called Angelman syndrome, which affects the nervous system. Symptoms include a small head, developmental disability, speaking problems, balance and movement problems, plus seizures. The disorder occurs with around 1 in 15,000 births.
The disease occurs due to a genetic mutation. Healthy babies inherit two copies of a gene called UBE3A — one from the mother, which is normally active and one from the father, which is inactive. For normal brain development, the mother’s copy of UBE3A is switched on (the gene encodes a protein called E3 ubiquitin ligase). However, with Angelman syndrome, the UBE3A gene is either missing or mutated.
The new therapy uses the gene editing tool known as CRISOR-Cas9 to switch the father’s copy of UBE3A back on. as The Guardian reports, that the application process involves injecting a fetus’ brain with an innocuous virus. The virus proceeds to infects the neurons and transmits a set of molecules that have been bio-engineered to correct genetic faults. The optimal time for the viral injections is during the second trimester since the brains are in the early stages of development.
What is CRISPR?
CRISPR (an acronym for Clustered regularly-interspaced short palindromic repeats), as Digital Journal has reported (see: “Is CRISPR technology set to change biological science?”), is a form of biological cut-and-paste technology which enables scientists to detect a gene defect within living cells and then apply molecular “scissors” to make changes. Such changes include deleting the gene; repairing it; or completely replacing it.
READ MORE: Co-creator of gene editing speaks out on CRISPR embryo research
To date, according to The Times, studies have been undertaken using mice and with human brain cells (human induced pluripotent stem cells). The results have been deemed sufficiently successful for further trials to be considered.
The research has been published in the journal PNAS, and the study is titled “A bipartite boundary element restricts UBE3A imprinting to mature neurons.”
