If you’re from Trøndelag county you probably know someone who has participated in the Nord-Trøndelag Health study (HUNT). Maybe you even participated! But did you know that researchers at the K.G. Jebsen Center for Genetic Epidemiology collaborate with international scientists to study the genetics of diseases like heart disease and diabetes using HUNT?

Genotyping allows researchers to read the DNA nucleotide (e.g. A, T, C, or G) at millions of places in the human genome, and from 2014-2015, DNA from a subset of blood samples donated by HUNT participants was genotyped in an international effort between NTNU’s Dr. Kristian Hveem and Dr. Cristen Willer of the University of Michigan.

Variation in the human genome

The human genome is 3.1 billion nucleotides in size, and these nucleotides ultimately create the proteins that run the human body. Variation in the human genome is normal — I may have a T in a place that you have a C. But sometimes that variation puts a person at increased risk for developing a given disease. Usually this is because a person has inherited a unique combination of risk increasing alleles that in aggregate contribute to disease predisposition.

Genome Wide Association Study (GWAS)

To identify the genetic variants which increase disease risk, scientists use a statistical method called Genome Wide Association Study (GWAS) to identify which nucleotides at which genomic locations are associated with a given disease. Ultimately, identifying and understanding these associations may lead to treatments and pharmaceutical therapies. It also helps clinicians identify people with a high genetic risk score, which means they have a greater genetic burden of risk increasing variants than the average person. It is a current topic of research if people with higher genetic risk scores might benefit from lifestyle interventions and preventative care.

Phenome Wide Association Study (PheWAS)

Scientists from NTNU and the University of Michigan’s Center for Statistical Genetics use HUNT to develop statistical methods and discover novel disease-causing genetic variants. One example of their work is performing GWAS on hundreds of diseases, or phenotypes, in a phenome wide association study (PheWAS). A phenotype is the expressed characteristic in an organism that results from the genotype and the environment. When we consider many or all the phenotypes of an organism, we call this the phenome. PheWAS can identify genomic locations where a nucleotide leads to increased risk for multiple diseases.

PheWAS was performed on hundreds of diseases like coronary artery disease and laboratory measurements like blood lipid levels across multiple instances of HUNT enrollment. The LPA variant on chromosome 6, rs10455872, is associated with many of these phenotypes—coronary artery disease (CAD), myocardial infarction or heart attack (MI), coronary artery bypass graft which is a type of heart surgery (CABG.PCA), angina or chest pain (AnginaPecICD), and increased blood levels of serum cholesterol (SeChol.NT2BLM, SeChol.NT23BLM, SeChol.NT3BLM), and total cholesterol (TC, TC.NT2, TC.NT3).

For example, a variant in the LPA gene, which codes for the Lp(a) lipoprotein responsible for transporting fats in the body, is known to be associated with heart disease. By performing PheWAS for this LPA variant in HUNT (Figure 1), researchers find the G nucleotide is associated with an increased risk of coronary artery disease, myocardial infarction or heart attack, coronary artery bypass graft which is a type of heart surgery, angina or chest pain, and increased blood levels of serum cholesterol and total cholesterol.

HUNT Data can help us understand diseases

While these associations have been previously noted by clinicians and researchers, PheWAS enables many cross-phenotype comparisons in HUNT. This is important information for understanding disease mechanism and creating potential therapies. PheWAS may also identify a nucleotide that is protective for one disease but increases the risk for another. Because of Norway’s national registries and HUNT’s detailed questionnaires which span decades, HUNT is a valuable resource for international researchers who work to understand how variation in the human genome affects the entire phenome.

A collaboration between several institutions, including the Norwegian University of Science and Technology (NTNU), the University of Michigan Medical School, Geisinger and Regeneron, and deCODE Genetics/Amgen in Iceland, has resulted in surprising results linking atrial fibrillation in adults to fetal heart development. 

The group studied an unprecedented sample size of over one million people, including over 60,000 individuals with atrial fibrillation, to discover over 140 genetic changes associated with this common, adult-onset cardiac arrhythmia. The results were surprising in that they identified a number of genes that control heart development in the fetus.

This could have important implications for future treatment and possibly prevention of atrial fibrillation.

Experiments in rabbits with induced heart failure showed that at least one of the fetal genes becomes active again in the damaged heart. Because the fetal genes have different rates of conduction of the cardiac electrical impulses relative to the adult form of the gene, atrial fibrillation is induced. This could have important implications for future treatment and possibly prevention of atrial fibrillation.

The group are hopeful that additional molecular biology experiments will determine how to create sustained regular heart rhythms by studying the genes they, and others, have identified.

Significance of the expression enrichment for the atrial fibrillation candidate genes.

They also found that for each individual, they could count the number of genetic changes that each person carries to predict which people are most at risk for developing atrial fibrillation in the future. This may have important implications for precision health and prevention of cardiovascular disease.

Another paper on atrial fibrillation was also published recently in Nature Genetics and we look forward to bringing these two collaborative groups together to generate an even larger study for the benefit of those afflicted by atrial fibrillation.

Read the full article in Nature Genetics. 

Bloggers: Astrid Lægreid, professor, Department of Cancer Research and Molecular Medicine and Martin Kuiper professor, Department of Biology

It is often overlooked that after you publish your research results you have not necessarily provided your new knowledge to your colleagues in the best possible way. Today’s biomedical science is very much dependent on the use of computers, to analyse and integrate the various types of data and facts that you and your fellow scientists have produced.  And whereas a computer can do many things, it has difficulty in understanding what is so easily understood by us when we read a scientific publication.

Although much research is done to improve the way computers can analyse text (the field of text mining), we excel in hiding facts and new knowledge in our publications. We use for instance words that can have multiple meanings, names that seem funny (sonic hedgehog) but do not mean anything to a computer, or we mention some facts in a context that greatly changes the meaning of a sentence (for instance by using the simple word ‘not’). We therefore need to reach out to computers and help them a bit with understanding the real knowledge that we have hidden so well in text. This is even more interesting if one wants to pursue the main goal we have set for our research at NTNU: using a systems biology approach for making new biological discoveries.

It is widely believed that a systems biology-based understanding of the human will allow great discoveries for improved health care.

Systems biology is based on a computer dealing with knowledge about biological systems or processes (like cell division; or regulation of the activity levels of genes). It is widely believed that a systems biology-based understanding of the human will allow great discoveries for improved health care. Systems biology has been made possible by the tremendous advancements in laboratory technologies that are now available to get massive amounts of data about the processes, cells and organs of our bodies. Once these data have been interpreted and published, system scale biomedical knowledge can be integrated into computer models in order to enable improved disease management and higher precision medicine. However, in order to succeed, we need to take proper care of this knowledge.

In our daily work we have developed various computer models of cell lines which we use in laboratory experiments, and each time we had to get the information for these models by reading many papers because only a very small amount of the information was available through databases. This made us think that it would be great of at least one part of the information for these models would be readily available for computers: information from the area of gene regulation. One small, but very important part of this is the knowledge about the system that connects the information in a particular class of proteins (transcription factors, TFs) with the particular DNA sequences in the genome in the vicinity of genes (recognition sequences, or transcription factor binding sites): This system essentially links the protein world with the DNA world and dictates which genes are active and which genes remain silent. We have recently launched a large effort in building a resource for this that covers three of the most important biological systems: human, mouse and rat (1,  2).

Of course we know that the DNA binding TFs are only a very small part of the very complex system of gene regulation, and it will take a very big group of scientists to take care of all the diverse forms of knowledge in the literature. And there we are lucky that we are not alone in realizing the importance of this. We have identified many researchers world-wide and found them willing to join us in a global consortium within the field of taking care of, or ‘curating’ gene regulation knowledge, and we are now discussing with them how we can best structure existing efforts and launch new efforts to jointly build a series of resources covering the complete domain of gene regulation in all organisms.

Systems biology is based on a computer dealing with knowledge about biological systems or processes, like cell division; or regulation of the activity levels of genes. Photo: iStockPhoto

Existing databases and knowledge sources within our consortium include amongst others the Gene Ontology databases, PAZAR, TFCat, TFactS and RegulonDB, as well as DBD- and IntAct at the European Institute of Bioinformatics (EBI).  Existing and new resources are designed in such a way that the information can be easily integrated into computer models. The consortium is named ‘Gene Regulation Consortium’ (short: GRECO), and is led by us.

Our basic objective is to extend on what we now only do for the DNA binding transcription factors from mouse, human and rat, and do it for the full field of gene regulation with many particular types of regulatory proteins, many types of regulatory RNAs, and many different structural and functional elements encoded in the DNA which allows the gene regulation system to fine-tune the activity of genes appropriate for a specific cellular function, and do it for all organisms.

The aims of GRECO are to:

• Foster communication across the field of gene regulation
• Assess the state of the art in annotating components and relationships important to describe gene regulation events
• Identify common initiatives, avoid redundancy, fill knowledge gaps
• Extend and align ontologies and controlled vocabularies
• Promote common data exchange formats
• Promote common curation quality guidelines
• Attract funding to support communication and initiate new curation initiatives

We were fortunate to receive some financial support from NTNU to organize the first GRECO workshop on April 5, at the Toronto University campus, as a satellite meeting of The Seventh Conference of the International Society for Biocuration, ISB2014.  We met with partners from the UK, Switzerland, Germany, the USA, Mexico, Brazil and Saudi Arabia, presented our ideas for this initiative and laid out the foundation for a joint strategy for acquiring additional project support from international funding organisations like the National Health Institutes in the USA, the Horizon 2020 programme from the European Union, or National funding agencies like NFR.

We hope to present some of our work at the Virtual Physiological Human (VPH) Conference 2014 in Trondheim in September 2014. The VPH mission is to contribute to developing a real predictive, preventive and participatory medicine by enabling the building of stronger transdisciplinary ties between the life sciences, the mathematical sciences and engineering throughout the whole spectrum of basic, translational and applied research.

References

1)      Tripathi S, Christie KR, Balakrishnan R, Huntley R, Hill DP, Thommesen L, Blake JA, Kuiper M, Lægreid A. Gene Ontology Annotation of Sequence specific DNA-binding Transcription Factors: Setting the Stage for a Large Scale Curation Effort. Database  Aug 27; bat062 2013.

2)      Chawla K; Tripathi S; Thommesen L; Lægreid A; Kuiper M. TFcheckpoint: a curated compendium of specific DNA-binding RNA polymerase II transcription factors. Bioinformatics 2013 ;Volume 29.(19) p. 2519-2520.

This story started as a puzzle. Notwithstanding their age, high BMI and a certain lifestyle, two elderly men who were included in a research project in Sweden and Finland did not have diabetes. It turned out that they were carriers of a mutation in a gene that was known to raise the risk of getting diabetes. The gene codes for a zink transporter called ZnT8 that has its effect in the pancreas, where insulin is made. With one copy of the gene destroyed, these men seemed to be protected from getting diabetes. This was so intriguing that more participants were included into the study. Indeed, more people were detected who did not have diabetes despite high age and often being obese.

To obtain more certainty of the association found, the research team now wanted to include a really large group of individuals and study this gene. With only one out of 2000 persons carrying this mutation, they need to include many cohorts, and HUNT was among these. In total, 150.000 participants from 14 cohorts contributed with their genetic material, among them HUNT. The pooled results were published in Nature Genetics in March, 2^nd, 2014. They show that having the gene mutation reduces the risks for getting diabetes with about two-thirds. People with this mutation seem to produce more insulin and have lower blood sugar levels throughout their lives, and this protects them to a large extent against diabetes. The next step is to try and develop new drugs against diabetes that may act in a similar manner as this gene mutation.

This is an example of what The Nord-Trøndelag Health Study can contribute to when we share our data with other researchers both home and abroad.

Picture: overview of genetic findings from the contributing cohorts. HUNT er visible as the middle green dot. Reproduced with permission from Nature Genetics.

Flannick J, Thorleifsson G, Beer NL et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics, 2014 March 2. Read more in Norwegian at forskning.no
Read international news item at  MedScape

In connection with the International Women’s Day last Saturday, PhD candidate Signe Åsberg has taken a look at women in science – how far we’ve come over the last century, but also how far we have left to go.

In the 1920’s Barbara McClintock and Harriet Creighton proved that genes for physical traits are carried on chromosomes. By collecting data from fields of carefully bread maize, they had for the first time physical proof that exchanging chromosomal parts are involved in causing variation between organisms. During the 1940’s McClintock continued her ground-breaking work in genetics and in 1951 at a Cold Spring Harbor Symposium summarized her discovery of the transposons, genetic elements that «jump around» on the chromosomes.

Barbara McClintock studied genetics, but was hampered by her own chromosomes – being female.

The importance of McClintock’s work was however not recognized until the late 1960’s when transposable elements were discovered in bacteria. By that time she had already been fighting for her scientific career for 30 years.

Despite of her scientific reputation, honorary degrees and being the recipient of numerous prestigious fellowships, McClintock faced decades of discrimination. She was denied faculty positions at Cornell University and University of Missouri due to discrimination against women scientists. While being expected to recommend male colleagues to universities like Yale and Harvard, she could not find a research related position herself.

The hostility she experienced as a female scientist was further increased by the disrespect members of the upcoming field of molecular biology showed towards biochemists, bacterial experts and geneticists. She was even described as «just an old bag who’d been hanging around Cold Spring Harbor for years» by a leading molecular biologist. A story by James Watson stand as an awkward symbol of this disrespect: The molecular biologists softball games that took place next to McClintock’s maize fields «all too often» ended in the fields – thereby risking harm to the plants and years of work.

Despite these exceptionally difficult circumstances (by today’s standard) McClintock never left science. When she tried to do so, her network of family and friends worked hard to find her research positions and support her. Eventually at the age of 81 she won the Nobel Prize for Physiology and Medicine for her work in genetics. Her work was described as «one of two great discoveries of our time in genetics» by the Nobel Committee.

The Nobel Prize and the publicity that followed became a burden for McClintock, but as Sharon B. McGrayne thoughtfully remarks in her book Nobel Prize Women in Science: «Despite the Nobel, McClintock continued her research». She continued her «encyclopaedic» reading and to her death in 1992 remained passionate about all aspects of biology.

Even among the many amazing women in science Barbara McClintock stands out to me as exceptional. Her stamina, her fierceness and love for science and biology is inspirational. Her persistence despite the lack of recognition and difficulty in publishing can be a source of motivation for any PhD student or Post Doc – or even a master’s student.

But, and this is an important but: McClintock dedicated every aspect of herself to her work. She worked twelve-hour days and only scaled down to eight- or nine-hour days in her nineties. Although she maintained selected hobbies there can be no question that science came first in her life. She was an amazing scientist – no doubt – but she is not necessarily a good role model for women in science today.

Women in science are no longer a small group of heroines that work twelve-hour days well beyond retirement. But this does not mean you are any less dedicated – or talented – at your work. Women in science are as diverse as humans anywhere and the loss of women between PhD to PI level (often called the «leaky pipeline») means that academia is missing out on a substantial portion of talented scientists.

As a scientist at an early stage of my career, this came as a surprise to me. No one ever informs undergrads that although women often constitute half, or in some cases the majority, of PhDs they constitute 30% or less of higher ranking positions in universities throughout Europe and the US. I find it surprising that reaching the 30% is considered an accomplishment by most institutions. However compared to the situation a few decades ago it is in fact a major achievement!

I consider myself privileged to be working at CEMIR. On a daily basis I’m surrounded by amazing scientists and a large portion of them are women. To an early stage PhD they are a source of inspiration and motivation but most importantly invaluable mentors in how to do science. With this short note I want to wish everyone at CEMIR, and scientists everywhere, a productive year.

Happy belated Women’s day!

During treatment of childhood blood cancer, great variations in side-effects are seen – both in terms of prevalence and seriousness. Some children get more serious side-effects than others. Potentially, the diversity in the toxicity burden for individual patients could reflect the normal genetic variation between patients.

A bone marrow smear at high magnification taken at diagnosis. Most of the blue cells are leukaemic cells. Normal red blood cells are also seen. (Photo: Bendik Lund)

In parallel with the biotechnological development over the last 10-15 years, we have gained extensive knowledge about the normal sequence variation in DNA, which differs from person to person. This sequence variation might explain some of the differences between people, for example height, hair colour, risk of diseases and the body’s reactions to medicines (pharmacogenetics).

There are many types of DNA-variations and one of the most common ones is single nucleotide polymorphism (SNP), where one letter in our genetic code has been replaced by another letter. DNA consists of long chains of base pairs (letters, totalling around 3 billion) and a SNP occurs approximately for every 300th base pair.

We wanted to study what role the natural genetic variation plays in the development of side effects in children treated for leukaemia (cancer of the blood). The most common form of blood cancer in children is acute lymphoblastic leukaemia, and 30-40 children are diagnosed in Norway every year with this type of leukaemia. The treatment consists of chemotherapy given over a period of 2.5 years, and the survival rate today is around 85%. The treatment causes many side effects including reduced immune function and infections. In some cases, the treatment can lead to so serious side effects that the patient dies from the toxicity.

Knowledge about pharmacogenetic variation is already used in the standard treatment for acute lymphoblastic leukaemia when using the chemotherapy 6-mercaptopurine. This drug is dosed based on the patient’s SNP variants for the enzyme that metabolises 6-mercaptopurine (TPMT-genetic variants).

We have collaborated with a research group at the laboratory in Copenhagen (Bonkolab, Rigshospitalet) and, based on existing literature, around 2300 candidate genes that could be significant for children with acute lymphoblastic leukaemia have been identified. Furthermore, the group has made a cost-efficient analysis method where 34,000 genetic variants (SNPs) per patient within these genes (extended candidate gene model) are analysed. Samples from several patients can also be analysed in the same sample tube (multiplexing).

The test tube to the left contains a blood sample from a healthy person. The test tube to the right contains a blood sample form a child with leukaemia. “Leukaemia” means “white blood”, and one can clearly see why when looking at the white layer of cells in the test tube to the right. (Photo: Bendik Lund)

We used this method in a study where we included 69 Danish children with leukaemia and compared the gene variant pattern with clinical data for infections that occurred during the first 50 days of treatment. We identified a SNP profile which with great accuracy can predict the risk for infections in this early phase of the treatment, where many infections are life-threatening.

If these findings are confirmed in similar studies, we may in the future be able to quickly determine whether a patient has an increased risk for serious infections by taking a simple blood test. If the patient is at high risk for serious infections, the treatment could be adapted accordingly for example giving prophylactic antibiotics, or by reducing the intensity of the chemotherapy. Hopefully this will lead to less side effects and higher survival rates.

Further reading:

• Host genome variations and risk of infections during induction treatment for childhood acute lymphoblastic leukaemia
• Risk factors for treatment related mortality in childhood acute lymphoblastic leukaemia

PhD-candidate Areej Ibrahim Elkamil at the Department of Laboratory Medicine, Children and Women’s Health (LBK), NTNU, has looked at risk factors for CP, and how best to treat the complications connected to it.

Complex risk factors

“There are many risk factors around birth which could harm the child: If the mother is ill; the child is conceived through assisted fertilization; there is more than one child (e.g. twins); there are problems with the placenta; bleeding during pregnancy; etc.,” Elkamil says.

“We are pretty sure that if you combine two or more of these factors, the risk of CP increases.”

One of the results that stands out is that induced labour seems to increase the risk for CP. Elkamil therefore wants to ask medical staff and parents to think twice before inducing labour without medical cause.

“We know that induced labour saves lives if the mother is ill – it can save both mother and child. But we want doctors to have in the back of their mind that induced labour can also be associated with a risk for CP,” she explains.

We know, however, that around a quarter of children with CP do not have any known risk factors. Elkamil believes there could be genetic reasons why these children cannot cope with the impacts of birth as well as other children, and researchers have already started looking into this.

Treatment not corresponding to severity

Elkamil and the researchers at LBK also looked at the treatment options for children with CP. One of the studies looked at the use of the muscle paralysing substance botulinum neurotoxin – also known as ‘botox’.

Two thirds of children with CP are treated with botox to reduce muscle spasticity (muscle stiffness), which is a common complication in CP. Not surprisingly, the researchers found that the proportion of children receiving botox treatment correlates with the severity of CP – but only to a point.

When looking at children classified at level five, the highest severity grade, the proportion of children receiving botox treatment is lower than on level four. This is despite the fact that these children have more muscle stiffness, spasms and corresponding pain.

“Some think that if we were to treat children at level five, we would have to administer botulinum toxin everywhere. This would result in very high doses, which could lead to serious complications. We think that perhaps we should set specific goals for botulinum toxin use, and administer it in places that would ease care or reduce pain,” Elkamil says.

“Children at level five often have to be strapped to their wheelchair, and cannot move. They have problems with spams and pains which can make daily care difficult. It is worth keeping in mind that something as simple as dressing the child can be a challenge due to spasticity.”

Early screening against hip problems

One of the complications that can occur in children with more severe CP is dislocation of the hip. It can be difficult to discover this in children with high levels of muscle stiffness and spasms. The worst is that a dislocated hip can become very painful without the children being able to communicate this to their parents or carers.

Elkamil has compared the follow-up programme to prevent hip dislocation in Sweden with Norwegian practice in the years 1998-2003. In Norway there has been a tradition not to intervene early, but rather wait until it becomes unavoidable. The reasoning has been that the children are still growing and developing, and that it therefore is better to wait as long as possible to avoid further operations later.

In Sweden, on the other hand, the practice has been to screen the children from an early age and operate early to avoid complete hip dislocation.

Elkamil found that the total number of operations did not increase with early intervention. When looking at the type of operation, it turned out that Sweden had less serious operations and no operations resulting in the removal of the femur head from the thigh bone (femur).

“The hip is a ball-and-socket joint, and when the hip is dislocated over a period of time, the cartilage protecting the hip socket is damaged, something which becomes very painful. With early intervention we can keep it in place, avoiding pain and larger operations. So it pays off to begin early,” Elkamil says.

Importantly, the Norwegian practice has changed since 2003 and we now follow the same model as in Sweden.

CP registers worth their weight in gold

In her research, Elkamil has made use of data from the Norwegian CP register, one of Norway’s 19 national medical quality registers. The CP register has made it possible to identify risk factors, and it can provide an overview of treatment practice.

As more countries establish CP registers, it will also become possible to conduct larger studies giving even better data, which ultimately could lead to better prevention and treatment.

Thesis defence

Areej Ibrahim Elkamil will defend her thesis on 27. September 2012 at 12.15. There will be a lecture at 10.15.

Related publications

• The effects of multiple pre- and perinatal risk factors on the occurrence of cerebral palsy. A Norwegian register based study.
• Induction of labor and cerebral palsy: a population-based study in Norway.
• Botulinum neurotoxin treatment in children with cerebral palsy: A population-based study in Norway.
• Prevalence of hip dislocation among children with cerebral palsy in regions with and without a surveillance programme: a cross sectional study in Sweden and Norway.

“Today there is no common consensus on how best to gather fresh tissue samples to understand the disease progression in individual prostate cancer patients,” says urologist Helena Bertilsson at the Department of Laboratory Medicine Children’s and Women’s Health (LBK), NTNU, and the Department of Urology at St. Olavs Hospital.

Bertilsson and her colleagues have found a new method for handling fresh tissue from prostate glands to study the genetics, proteins and metabolites. The goal is to understand the tumour’s biology and what makes cancer aggressive or not.

“We have developed a quick and simple method which preserves the tissue through quick freezing, at the same time as the fresh tissue is kept in a form that enables researchers to answer many research questions of high current interest. One should be able to easily adopt it in the laboratory and know exactly what types of cells are present in the sample – and one should be able to analyze not only genes, but also proteins and metabolites.”

Bertilsson adds that when analyzing tissue at a molecular level, it is important that the quality of the genetic materials is as high as possible to obtain reliable results – and the make-up of the tissue is an important factor in the quality of the genetic material.

Better understanding

The new method could also hold a key to a better understanding of prostate cancer. Through the use of magnetic resonance spectroscopy (MRS), the researchers have looked at the cancer cells’ metabolism and compared this with the cells’ DNA profile (gene expression).

We already know that the level of the metabolite citrate is lower in prostate cancer cells, whereas the level of choline is higher. What we do not know so much about is why. Bertilsson has therefore studied these variations together with genetic data to see if and how they correlate.

One of the findings is that although some genes may seem very important in isolation, it is not given that they are the genes that actually impact the cancer cells’ ability to grow and spread. By comparing metabolic differences with genetic variation, different genes can emerge as important – genes that otherwise might have been dismissed as unimportant.

This is something Bertilsson wants to study further:

“This is what makes research fun – new ideas are formed all the time! It is something I would like to look more into in an animal model. What if we blocked this gene? The hypothesis is that the tumour would decrease and that we would see this as a reaction in the metabolite citrate.

“We will also look more at the genetic data, as we have only scratched the surface,” Bertilsson says.

This is something that could lead to more targeted treatment in the future.

More forms of cancer

The method developed at LBK also applies to other forms of cancer, such as kidney cancer, testicle cancer and breast cancer. There is also an on-going pilot study for intestinal cancer.

Related publications

• RNA quality in fresh frozen prostate tissue from patients operated with radical prostatectomy. Bertilsson et.al.
• A new method to provide a fresh frozen prostate slice suitable for gene expression study and MR spectroscopy. Bertilsson et.al.
• Changes in gene transcription underlying the aberrant citrate and choline metabolism in human prostate cancer samples. Bertilsson et.al.

​Thesis defence

Helena Bertilsson will defend her thesis: “Prostate Cancer – translational research optimizing tissue sampling suitable for histopathologic, transcriptomic and metabolic profiling” at the Auditorium, Medisinsk teknisk forskningssenter, NTNU, Friday 21. September at 12.15.

 Certain inflammation markers seem to be related to increased risk of ischemic heart disease (angina pectoris and heart attack), according to three studies conducted by Cand.med. Inga Thorsen Vengen at the Department of Laboratory Medicine, Children’s and Women’s Health, NTNU.

Publications

• Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 Study in Norway. Vengen IT et.al. (Submitted)
• Lactoferrin is a novel predictor of fatal ischemic heart disease in diabetes mellitus type 2: Long-term follow-up of the HUNT 1 study. Vengen IT et.al. Atherosclerosis 2010.
• Neopterin predicts the risk for fatal ischemic heart disease in type 2 diabetes mellitus. Long-term follow-up of the HUNT 1 study. Vengen IT et. al. Atherosclerosis 2009.

 Researchers at the Department of Laboratory Medicine, Children’s and Women’s Health (LBK), NTNU, has developed a better, quicker and cheaper method for typing group B streptococcus (GBS) based on repeated areas in the genome.

Publikasjoner

• Multiple-locus variant-repeat assay (MLVA) is a useful tool for molecular epidemiologic analysis of Streptococcus agalactiae strains causing bovine mastitis. Radtke etl.al. Vet Microbiol. 2012 Jun 15;157(3-4):398-404. Epub 2012 Jan 8.
• Rapid multiple-locus variant-repeat assay (MLVA) for genotyping of Streptococcus agalactiae. Radtke et.al. J Clin Microbiol. 2010 Jul;48(7):2502-8. Epub 2010 May 26.
• Identification of surface proteins of group B streptococci: serotyping versus genotyping. Radtke et.al. J Microbiol Methods. 2009 Sep;78(3):363-5. Epub 2009 Jun 30.