Genetics
Here are scientists related to this topic. Choose one to read about their work and ask them your questions.
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Nikolai Adamski
Current Job:
Post-Doctoral scientist
My latest work:
Wheat is an important staple crop (it provides ~20% of calories and protein consumed worldwide). With the global population predicted to hit 10 billion by 2050, food production has to increase ~50-60%. And that in the face of climate change and dwindling resources.
Yield is a complex trait that is difficult to manipulate; changing a single yield component often results in so-called compensation effects that negate most of the yield gain. Grain weight is a yield component that is determined late in the life cycle of a wheat plant and is thus less likely to be compensated by other effects. This makes it an ideal starting point to try and dissect yield in wheat.
I am using both at natural variation of grain weight, e.g. between different cultivars of wheat as well as induced variation such as can be found in the wheat TILLING population and is interested in elucidating the function of known regulators of grain weight such as TaGw2 as well as identify and characterise novel loci. Understanding when, where and how these genes act on grain development will help us to increase grain weight and hopefully yield as well.
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Reka Nagy
Current Job:
My job title is simply ‘Scientist’!
My latest work:
Many serious diseases, affecting millions of people worldwide, have complex genetic causes. For example, two people could both have osteoporosis (a disease where bones become brittle and fragile), but due to two different reasons – one person might have a faulty gene that can no longer deposit minerals into the bone as efficiently, while the other person might have a mutation in a gene that leads to them having bone cells that die more easily and can’t replenish themselves fast enough.
This has the consequence that a drug that helps treat the first person by restoring bone mineral deposition will not be effective if given to the second person to treat their osteoporosis.
A second problem is that so far, we have only conclusively managed to pin down a handful of culprit genes – in fact, for most of the ‘common’ diseases (those that affect a large number of people), the majority of their genetic causes are still unknown.
The aim of my job is to try to find some of the missing pieces of this genetic puzzle. I try to find new ‘culprit genes’ that might be involved in certain diseases. New drugs can then be developed (or existing drugs repurposed) to repair the biological process that broke down because this gene was faulty. This means that we will be able to treat more people who have that disease, or even enable the first ever treatment for diseases for which no drugs currently exist.
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Emma Meaburn
Current Job:
Dr Emma Meaburn is a behaviour geneticist based at the Centre for Brain and Cognitive Development, embedded within the Department of Psychological Sciences at Birkbeck. She is co-director of the Genes Environment Lifespan (GEL) laboratory and a member of the Centre for Educational Neuroscience (CEN).
My latest work:
One of the core aims of my research lab is to identify the genetic and environmental causes that play a part in making people different, and explore how these causal processes work.
A lot of progress has been made in identifying genes that contribute to risk for autism, but currently little is known about how (and when) they alter brain development. We think this gap in our knowledge needs to be bridged, so at the moment we are hard at work in the BabyLab studying young children and infants who have an older sibling with a neurodevelopmental disorder (Autism, or ADHD). We are examining how genes linked to ASD or ADHD influence brain activation and brain development in early life, and infant social behaviour.
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Max Jamilly
Current Job:
I’m a PhD student in Synthetic Biology at Oxford University
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Hannah Currant
Current Job:
PhD Student in Biological Sciences
My latest work:
I’m trying to use images of the human eye to get measurements about the retina, and then see if genetics is effecting these measurements. The eye measurements tell us about the shape of the eye, and the shape of the eye is effected by several diseases, such as glaucoma. So by looking for genetics that is effecting the shape of the eye, we hope to find genetics to do with these diseases. This may help us find ways to improve how we diagnose and treat these diseases.
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Anthony Redmond
Current Job:
Postdoctoral Research Fellow
My latest work:
Exploring new genetic approaches to help build the animal tree of life.
Understanding how animals are related to each other gives us a map with which to understand how and when important traits have evolved, e.g. brains, limbs.
To do this we look at genes from different species to work out how they are related to each other. My work currently is focused on using our understanding of how our genes evolve to work out these relationships.
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Verity Woodhall
Current Job:
Clinical Scientist in Bioinformatics – Genomics
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Fern Johnson
Current Job:
Trainee Clinical Scientist in Bioinformatics (Genomics)
My latest work:
Clinical scientists are usually involved in introducing new tests or improving the genetic testing service, but I’m particularly excited about a project I will be starting next year. As part of my training program I also complete an MSc part time, which includes a work based research project. I’ll be designing an analysis pipeline for a new testing service. Rather than looking for variants in genes, I’ll be looking at microsatellite instability. In the genome, microsatellites are short, repeating sequences – like AGAGAGAGAGAG. The number of repeats should be the same in every cell, though sometime mistakes in DNA replication can result in the microsatellite growing or shrinking in replication, so it’s not the same in all cells – this is called microsatellite instability and can be seen in cancerous tumours with faulty mismatch repair proteins, which normally guard against mistakes in DNA replication. In colorectal cancers, whether a tumour has stable or unstable microsatellites can determine how well some chemotherapy will work. At the moment we look at gene variants in colorectal tumours through next generation sequencing, but microsatellite testing is a separate test. If we could run both tests at the same time, it will help get the results out quicker, so that a patient’s doctors can make faster decisions about their treatment.
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Anastasia Aliferi
Current Job:
I’m still a student working towards my PhD in Forensic Genetics. At the same time I’m also working on police cases that need us to use some of our newest tools, like the ones that can tell us how someone looks like or where they are from! I also work as a laboratory demonstrator for the BSc and MSc Forensic Science degrees and as a mentor for the Forensic Science online course of King’s College London on Future Learn (‘The Science Behind Forensic Science’)
My latest work:
Think about the police investigating a crime scene and all they can find is a tiny drop of blood. There are no cameras, no witnesses, no suspects! Now imagine how useful it would be for us if from this blood drop we could tell how the person who left it behind looks, where they come from and how old they are! That narrows things down, right?
I work with multiple projects that look into finding out things like someone’s eye and hair colour, whether they have straight or curly hair and where in the world they originally come from, by just looking at a little bit of their blood. My main focus however, is using blood to guess someone’s age. Unlike our eye colour, our age changes every single day, making our job at calculating it very very difficult! I have spent over 4 years looking at this puzzle and digging into very large piles of data from thousands of different people.
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Jose Brandao-Neto
My latest work:
How proteins want to do chemistry.
And lining up my new book, whose title will be Adventures in Artificial Intelligence and Structural Biology – Tips, Tricks and Music from Proteins, coming out to Amazon Kindle soon as a D.J. Protein and D.J. DNA Excellent Science Books Series (I’ll post a link here when ready).
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Bruno Silvester Lopes
Current Job:
2012 – Present: Research scientist in Medical Microbiology at the University of Aberdeen, Supervisors: Prof Ken Forbes, Prof Norval Strachan (Chief Scientific advisor, Food Standards Scotland)
My latest work:
How bacteria develop resistance and I am working on Campylobacter (the #1 cause of bacterial gastroenteritis in the UK). It actually costs the UK economy 1 billion pounds each year!
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Rebecca Shaw
Current Job:
Research Technician at the University of Aberdeen.
My role is rotational; I work in various research groups assisting the researchers with their projects. This allows me to learn a lot of new laboratory techniques, understand new concepts and meet loads of new people!My past work has looked into:
Salmonella and how the bacteria that causes salmonella combats the bodies defence system,
arthritis and the cellular mechanisms involved in the inflammation associated with the disorder and
identifying fungal pathogens and how good they are at infecting people.
My latest work:
I’ve been working on looking at the genes involved in the development of eyes 👀 and also looking at what genes are involved when things go wrong with eye development. Our eyes are so important and so it’s important to understand why sometimes they don’t work very well!
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Alena Pance
Current Job:
I am a Senior Staff Scientist at the Wellcome Sanger Institute. The institute is part of the Genome Campus, located in Hinxton, South Cambridgeshire.
My latest work:
My main work centres around malaria. I am mostly interested in the interaction between malaria parasites and their mammalian hosts and because the infectious cycle of the parasite in the blood is the stage most associated with clinical disease, this is the part of the life cycle I study.
In this age of genetics, we have access to great data about the parasites, but assessing the host is a bit more difficult. This is because the malaria parasites invade red blood cells and as these do not have a nucleus, we don’t have the ‘genetic handle’ to understand and manipulate them. So, my solution is to use stem cells. The way this works is that we either reprogramme induced plutipotent stem cells or IPS from patients or we use some of the already established lines. As these cells have the potential to become almost any cell type, we developed a protocol to turn them into red blood cells, which we then expose to the parasite to see if they can infect.
This allows us to modify some of the proteins normally present in the red blood cell and see whether the parasite still infects them. In this way, we found one of the major receptors for the rodent malaria parasite Plasmodium berghei… yes, mice as well as many other animals suffer from malaria too.
We have also identified some of the major components of human red blood cells that are necessary for the parasite to infect people.
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Eddie Cano Gamez
Current Job:
PhD student in genomics
My latest work:
My current work tries to understand why people develop autoimmune diseases. In these diseases the immune system (which is usually in charge of protecting us from infections) starts attacking and destroying healthy organs in our body. Some examples are lupus, arthritis and multiple sclerosis. However, it is unknown what causes the immune system to attack in such an uncontrolled way. It is believed that the cause could be a combination of our genes and our environment. To answer this, I study the interaction between these two factors by exposing people’s immune cells to different environments. I then analyse the cells using a mix of genetics and data science.
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Eugene Gardner
Current Job:
Postdoctoral Fellow (2017-Present)
Wellcome Trust Sanger Institute, Lab of Dr. Matthew E. Hurles, FMedSci
Study of structural variation in developmental disorders and human populations using whole genome, whole exome, and microarray sequencing approaches.My latest work:
I focus on the diagnosis of children with rare developmental disorders (DD) as part of the Deciphering Developmental Disorders (DDD) study. Approximately 45% of patients in DDD have a single base change compared to their parents that explains their condition. My work involves trying to find diagnoses for the remaining 55% in two different ways. The first involves identifying changes in DNA that are different compared to their parents, but in my case, I look for very large parts of the human genome that are completely gone. The second is by trying to understand how changes children inherit from their parents could cause their disorder. Interestingly, some individuals also carry changes that, if observed in our patients, would be considered likely causative. I am currently working to understand how are these healthy individuals are “protected” from showing the same symptoms as our recruited patients and if they can help us to understand the genetics of our remaining DD patients.
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Francesca Gale
Current Job:
Education Development Lead – I work with scientists and teachers to develop new learning resources around Genomics
My latest work:
My current work involves working with scientists and teachers to develop new learning resources around genomics. All the resources we develop (which are free) can be found here: www.yourgenome.org.
I also run training sessions on genomics for teachers and most recently I have contributed to a new Primer book on genomics 16 year olds and above (due to be published next year)
Most recently Scientists at the Wellcome Genome Campus developed an initiative called Genome Decoders that enables students to help scientists identify and label genes in the genome of a parasitic worm called the Human Whipworm.
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Vanesa Alvarez
Current Job:
Postdoctoral research assistant at University of Dundee
My latest work:
DNA replication is an essential process for the division of the cells. When we think about DNA replication, a double helix being duplicated comes to our minds. We always forget about the replication of the whole set of proteins that interacts with the DNA molecule. They have to be duplicated, too, and preserved in the same position they occupied in the mother DNA molecule. My current project is the study of how these proteins are conserved along the cell cycles.
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Gerry McLachlan
Current Job:
Group Leader, The Roslin Institute
My latest work:
I work as part of the UK Cystic Fibrosis Gene Therapy Consortium and, as the name suggests, we’re trying to develop gene therapy for cystic fibrosis. The Consortium has been running for almost 20 years now. It is a collaboration between the University of Edinburgh, the University of Oxford and Imperial College London.
Within the Consortium, our team at Roslin is using sheep as a model to study gene delivery to the lung in people. We have been involved in a lot of preclinical testing of gene therapy vectors, which we then try to develop and optimise. Over the years, our gene therapy vectors have even gone as far as clinical trials in cystic fibrosis patients with some success.
In the past few years, we’ve been looking at using a new viral-based vector, giving us a very optimistic view for the future. This viral based vector, an SIV vector which can cause disease in primates, is similar to HIV. It is essentially the same kind of virus therefore it has to be modified to prevent it from being harmful.
We have been working on these viral-based methods for a while and it seems that they are more efficient than the non-viral systems used previously. The advantage of the viral mechanism is that SIV integrates into the genome of patients receiving treatment.
We’re quite optimistic and we’ve got funding in place from the Wellcome Trust and the Department of Health through the Health Innovations Challenge Fund that allows us to do clinical trial. We’ve also recently partnered up with a pharmaceutical company, which allows us to do a much more comprehensive program and hopefully get to clinic quicker. We really are quite optimistic for the future as this partnership may really provide us with a lot more resources, which we really need to be able to make this a viable treatment for patients.
https://www.research.ed.ac.uk/portal/en/persons/gerry-mclachlan(fca5cb60-7bf8-4ac4-a6e1-f8c170025c40).html
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Gabriela da Silva Xavier
Current Job:
Senior Lecturer in Cellular Metabolism
My latest work:
I work on proteins that control energy balance- fuel sensors, if you like- and one of the proteins that I work on seems to be regulating energy balance by its action in different parts of the body. For example, we have shown that this protein controls the work of the cells in the pancreas that regulate glucose balance and that people with type 2 diabetes have lowered levels of this protein in these cells. Recently, I found that mice that lack this fuel sensor eat more, and they eat more at the wrong time of day, suggesting that this protein is important in regulating appetite and responses to hunger. I am currently trying to figure out how this protein is doing this.
