Lifeboat Foundation

NUI Galway will lead a new €13 million SFI Centre for Research Training in Genomics Data Science. The new Centre will train a generation of 100 highly skilled PhD graduates to harness the collective potential of genomics and data science to have transformative scientific, economic and societal impacts.

Announced recently by Minister Heather Humphreys TD Minister for Business, Enterprise, and Innovation, and Minister of State for Training, Skills, Innovation, Research and Development, John Halligan TD and Science Foundation Ireland, the Centre will be led by NUI Galway and will involve partners from UCD, TCD, RCSI and UCC.

A genome is an organisms complete set of DNA or genetic material and it contains all of the information needed to build and maintain that organism. Genomics is the branch of science that studies genomes to see how they direct the growth and function of cells and organisms and it is a key area of fundamental science with real-world impacts in areas from human health to agriculture and food production. In recent years the field of genomics has undergone a revolution, driven by new technologies that generate data on an enormous scale. In order to make sense of the large and complex datasets arising from analysis of genomes, we require highly trained data scientists, who can turn this data into useful information that can increase scientific understanding and enable us to harness the power of genomics to drive innovation and create real-world solutions.

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Arthritis is usually painful. So is the surgery to fix it, at least in the immediate aftermath. So when a 66-year old woman at Raigmore Hospital in Inverness, Scotland, told doctors that her severely arthritic hand felt fine both before and after her operation, they were suspicious. The joint of her thumb was so severely deteriorated that she could hardly use it—how could that not hurt?

So they sent her to see teams specializing in pain genetics at University College London and the University of Oxford. Those researchers took DNA samples from both her and some of her family members and uncovered her secret: a tiny mutation in a newly-discovered gene. They recently published their results in the British Journal of Anaesthesia.

This minuscule deletion is inside something called a pseudogene, which is a partial copy of a fully functioning gene inserted elsewhere in the genome. Pseudogenes don’t always have a function—sometimes they’re just junk DNA—but some of them have residual functionality leftover from the original gene’s purpose.

Continue reading “This woman’s genetic mutation shields her from pain and anxiety” »

The marriage of these two technologies can only mean something great is in store.

Prof Jennifer Doudna, one the pioneers of Crispr-Cas9 gene editing, explains how this revolutionary discovery enables precise changes to our DNA, which can be used to correct mutations that cause genetic diseases and eradicate them from a germ line. Doudna raises the key issues of debate around gene editing and suggests what will have the most immediate impact.

Using a modified version of CRISPR, a team of geneticists has successfully triggered 13,200 genetic changes to a single human cell. That’s a new record, by a long shot. This sweeping new editing process could eventually be used to strip DNA of useless or dangerous genetic information—or create entirely new kinds of life.

New research uploaded to the preprint bioRxiv server describes the achievement, in which a Harvard University team led by George Church edited the living crap out of a single human cell to the tune of 13,200 total modifications. Incredibly, the cell survived. The previous record for bulk edits made to a single cell was set in 2017, when Church and his colleagues knocked out 62 copies of a retrovirus found in pig genomes. The new achievement is thus “three orders of magnitude greater” than the previous standard, the authors wrote in their paper.

The findings, published on February 18, 2019 in the journal Nature Medicine, highlight a novel CRISPR/Cas9 genome-editing therapy that can suppress the accelerated aging observed in mice with Hutchinson-Gilford progeria syndrome, a rare genetic disorder that also afflicts humans. This treatment provides important insight into the molecular pathways involved in accelerated aging, as well as how to reduce toxic proteins via gene therapy.

“Aging is a complex process in which cells start to lose their functionality, so it is critical for us to find effective ways to study the molecular drivers of aging,” says Juan Carlos Izpisua Belmonte, a professor in Salk’s Gene Expression Laboratory and senior author of the paper. “Progeria is an ideal aging model because it allows us to devise an intervention, refine it and test it again quickly.”

With an early onset and fast progression, progeria is one of the most severe forms of a group of degenerative disorders caused by a mutation in the LMNA gene. Both mice and humans with progeria show many signs of aging, including DNA damage, cardiac dysfunction and dramatically shortened life span. The LMNA gene normally produces two similar proteins inside a cell: lamin A and lamin C. Progeria shifts the production of lamin A to progerin. Progerin is a shortened, toxic form of lamin A that accumulates with age and is exacerbated in those with progeria.

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Earlier this year, we hosted the Ending Age-Related Diseases 2018 conference at the Cooper Union, New York City. This conference was designed to bring together the best in the aging research and biotech investment worlds and saw a range of industry experts sharing their insights.

Joe Betts Lacroix of Y Combinator and Vium discusses the different ways in which entrepreneurs can focus on overcoming the diseases of aging, namely direct, indirect, and money-first approaches, and the strengths and weakness of each.

Joe was the primary technical founder of hardware/software startup OQO, which entered the Guinness Book of World Records for building the smallest fully featured PC. His experience spans from biotech research to electronics design. Very experienced in invention, prosecution and monetization of intellectual property, he has over 80 patents granted and pending in fields ranging from biophysics and safety systems to antennas, thermal systems, user interfaces, and analog electronics. He has written numerous peer-reviewed publications in fields such as biophysics, genetics, electronics, and robotics. Joe holds a Harvard A.B., an MIT S.M. and a Caltech research fellowship.

Continue reading “NMN, NAD+ and the Plasma Membrane” »