The Human Fertilisation and Embryology Authority have confirmed that mitochondrial transfer procedures are ‘potentially useful for a specified and defined group of patients’. In addition they have said that the techniques are not unsafe but there are some critical experiments still to take place before the method hits the clinics.
Originally posted on the node
I recently took part in the ‘I’m a scientist, get me out of here!’ outreach event. As soon as the school children found out I was a developmental geneticist and worked out what I did, one question I was repeatedly asked was: “what’s your favourite gene and why?” so for a bit of fun, I thought I’d share my thoughts and see what everyone else’s are too.
Now, I could have gone into detail about a gene of utmost importance in my work or one we literally couldn’t live without (although picking either of those would be tricky as that hardly narrows the list down). However, my first thought when picking my ‘favourite gene’ is always listing the funny-named ones that stuck out from my university lectures. That’s not to say these genes don’t also fit into the important and essential-to-life categories, but they have that added ‘pazzaz’ of an ear-catching name that would wake you from your university slumber, thinking “did he actually just say what I think he said…?”. So here is my shortlist, the top 5 genes based almost entirely on their names: Continue reading What’s your favourite gene?
Yesterday, my evening was spent at Senate House in London for my first experience of a Crick Symposium run by the new/future Francis Crick Institute. Just so you know, The Francis Crick Institute is the developing giant biomedical research institute being built just by King’s Cross Station in London and will house researchers from Imperial College, King’s College, University College, The NIMR and the LRI. It’s huge, it’s a big deal and if (fingers crossed) everything goes to plan timing wise I will be finishing up my PhD there!
Now the symposium was about rare diseases, which weirdly enough are a big problem. Each individual rare disease is defined in the EU as affecting less than 5 in 10000 of the general population however with over 6000 recognised rare diseases that equates to a lot of people living with them. Rare diseases are often severe, chronic, life threatening, life debilitating and have large impacts on the patient and their families. Continue reading Crick Symposium: Rare Diseases
This year the RI Christmas lectures are titled ‘Life Fantastic’ and, much to my excitement, are focussing on ideas embedded in development. The three lectures will be broadcast on BBC4 at 8pm on 28, 29 and 30 December. They’ll be presented by Dr Alison Woollard from Oxford University who is a lecturer there as well as being involved in C. elegans (these things) development research. Her research and interests focus on fate determination of cells in development – a fancy way of saying how one cell of an embryo becomes part of your eye while the other becomes part of your gut etc. Needless to say I’m sure her enthusiasm for the subject, knowledge and lecturing experience will result in an interesting Christmas Lecture series.
So what are the Christmas Lectures? For anyone that hasn’t been shown them as a child or found them as they run out of Christmas labelled TV shows to watch the idea of watching a lecture in the festive season may seem odd. Well they’re aimed at ‘young people’ although that’s a bit general as the whole family can sit down and watch it. Parents will learn something just as their children will, although grown ups are also more likely to talk over sections to try and reassure everyone in the room that they know other stuff too. However with a target of ‘young people’ it does mean they try and make the lectures super fun and exciting (see last year’s focus on blowing things ups, making big bangs and large flames…). They lectures have been put on since 1825 (only skipping the second world war years) and some of the past videos can be found online here.
The lectures have 3 titles: Where do I come from? Am I a mutant? Could I live forever? More information on the three (and everything to do with the Christmas Lectures) can be found here. Now I like to talk for England and no doubt I’ll make my family watch the lectures then hope they’ll ask me questions as the ‘in-house expert’ but if there’s anything you might question as a result of the lectures and you don’t have an uber keen PhD student sat with you there is salvation! “I’m a Scientist, Get me out of here” is an outreach type website and organisation who are running an ‘ask a scientist’ online question and answer session throughout January which you can sign up individually or teachers can set up classroom sessions to engage a whole class. Find out everything you want to know and how to take part here.
Watch the lectures, learn something new, get excited about science and development (I am slightly biased in saying this is the best part of science…) and then ask questions! What more do you want for a public engagement activity?!
I’m a new PhD student at the National Institute for Medical Research. I’m fresh out of university having graduated from King’s College London this summer. I’m in the systems biology department and have a research focus on conserved non-coding elements. To me, this makes sense. However to a lot of people they look at me like I’m crazy. Not because I’ve decided to do a PhD in research science and that in itself may result in some form of psychological breakdown but because, once I’ve explained a bit more about what exactly CNEs are, they realise I’m ‘just looking in the gaps between genes’.
It’s one of the easiest ways to explain what regulatory elements are, bits in the gaps. But that doesn’t mean they’re any less important than the bits either side of the gap – the genes themselves. Someone tried telling me that statistically I would never find anything or the chances of me finding anything were so low that I wouldn’t have any results by the time I’m 30, let alone in the 4 years I have to complete my PhD, because “pretty much all the disease mutations we’ve found so far have been in the genes”. Aside from the fact I realised I’d only be 3 years away from being 30 by the time I finish my PhD (and subsequently scared myself rigid into making a life plan including a tight schedule for engagement, marriage and children) I also replied with what I find a glaringly obvious answer: that’s because we’ve only looked in the genes so far anyway. Track back to before we developed sequencing technologies and most of the diseases we knew were because of poor diet, the environment and cleanliness (or lack thereof) so why bother looking in the genes? Now we’ve moved on, discovered many mendelian and non-mendelian disease causing genes and mutations, hundreds of them. However, by looking at just the coding regions of the genome we are missing out around 98.5% of the DNA sequence in humans. When the human genome was first sequenced, the surprise that its millions of bases only held around 20,000 genes led to the labelling of much of the ‘gaps’ as ‘junk’. Why is it then that some of this ‘junk’ is so highly conserved over millions of years in evolution?
That’s kind of the idea behind everything I’m doing. There’s a set of CNEs that are conserved in vertebrates, so highly so that we can compare those in zebrafish, humans, pufferfish and mice and they’re the same. If a sequence doesn’t change over that sort of evolutionary time and distance surely it is important? We already know that there is more behind the ‘junk’ DNA so surely discrepancies, insertions, deletions and mutations in these regions could have phenotypic effects? Albeit uncovering the extent of these variations’ effects on disorders and anomalies would be trickier than how a single base change in a coding region could cause a genetic disorder as we are yet to uncover the code, grammar and spelling of these non-coding regulatory regions (if only it was as simple as the base triplet into amino acid version seen in coding regions…). The principle thought behind the theory would say that in a region as highly conserved as the ones we’re investigating, a single base pair could make a dramatic difference as it’s not seen in wild type organisms (the same with insertions and deletions). However we need to prove this. We need to decode the non-coding areas. We need to find a disease-causing mutation in these conserved CNEs. We need to prove this through a functional assay. We need a PhD student to sequence cohorts of hundreds of people with developmental disorders and anomalies and then analyse the data to find these, oh wait… When we find these (because we will, others already have and I’m a bright eyed bushy tailed new PhD student who believes I’ll have some form of answer in the next 4 years, let alone by the time I’m 30…) hopefully it will slowly start steering the balance of research from 99% exome sequencing to a more equal balance between exome and regulome searching. Our genes are crucial to who we are, but we can’t just ignore all the ‘gaps’ in between. They’re full of lots of important stuff too!
- Alexander, R. P., Fang, G., Rozowsky, J., Snyder, M. & Gerstein, M. B. Annotating non-coding regions of the genome. Nature reviews. Genetics 11, 559-571, doi:10.1038/nrg2814 (2010).
- Epstein, D. J. Cis-regulatory mutations in human disease. Briefings in functional genomics & proteomics 8, 310-316, doi:10.1093/bfgp/elp021 (2009).
- Nelson, A. C. & Wardle, F. C. Conserved non-coding elements and cis regulation: actions speak louder than words. Development 140, 1385-1395, doi:10.1242/dev.084459 (2013).
- Woolfe, A. et al. CONDOR: a database resource of developmentally associated conserved non-coding elements. BMC Developmental Biology 7, 100, doi:10.1186/1471-213x-7-100 (2007).
- http://scienceblogs.com/evolgen/wp-content/blogs.dir/296/files/2012/04/i-9e2a23088c9980f92d903a97e602c0af-noncoding_dna.jpg from https://www.sciencenews.org//node/21410 (image)