Beckman Coulter launches annual CARES award as part of initiative to help people living with HIV/AIDS

Beckman Coulter Life Sciences has launched an international HIV/AIDS award at the 2016 conference for the African Society for Laboratory Medicine (ASLM) recently held in Cape Town, South Africa (December 3 to 8).
The annual award is part of the company’s global CARES Initiative dedicated to helping people who are living with HIV/AIDS. Beckman Coulter’s CARES award is designed to recognize individuals who have shown ‘care, dedication and commitment’ in their communities as part of the fight against HIV/AIDS. The winner will receive a $5,000 (€4,700) donation in their name to one of the selected causes, with the three individual stories that receive the most nominations publicized around the world on the CARES Initiative website.
Potential winners can be nurses, healthcare workers, national coordinators, lab scientists and even clinicians; or lay people who are active in community outreach work. This could include a social worker providing AIDS counselling.
CARES supports the UNAIDS 90-90-90 target to ensure that by the year 2020, 90% of people living with HIV will know their status, 90% of those with diagnosed HIV infection will receive sustained antiretroviral therapy, and 90% of all people receiving antiretroviral therapy will have viral suppression.
It focuses on providing innovative solutions for the monitoring of HIV and AIDS treatment. CARES was inspired by the work of Professor Debbie Glencross, a South African laboratory pathologist, who found a different and less expensive way to measure a patient’s CD4 count.
While this is intended as an international award, in its first year, the award  will focus on recognizing the dedication of people in Africa, one of the areas in the world most affected by HIV/AIDS. The 2017 award will be launched at the annual meeting of the African Society for Laboratory Medicine (ASLM), a pan-African professional body aiming to improve laboratory services.  

Recognition for unsung heroes
Samuel Boova, Beckman Coulter’s Director Alliance Development, High Burden HIV Markets,  said: “The award is to give a platform to the work and stories of those we see as the unsung heroes of individual communities. These are people who have shown individual dedication, commitment and courage or who have made a difference in the battle against HIV/AIDS.
“However, it is not just the final winner we want to publicaly recognize. We hope the award will encourage communities to learn about and honour the work of every nominee, so that more people will come forward to help and support those living with HIV/AIDS.”
Nominations must first be made via the CARES website. Once a name has been nominated, the local community will be given the opportunity to vote in support. People with the greatest number of votes will be put forward for the final assessment panel.  Rules of entry and full details are available in full from http://www.beckman.com/cares.
Mr Boova gave the following examples of ordinary people who support their local communities in the field of HIV/AIDS. “We are looking for dedicated and committed individuals like these who work in the community helping others to live with, and manage, the disease,” he added.

Potential Nominees
The first example is how a young HIV positive woman in Uganda was inspired and empowered by a community charity, PINA (People In Need Agency), to rebuild her life and become an advocate herself for young people living with HIV. This was the objective of PINA when it was first set up by a local case worker – to work with young people, helping them overcome the stigma of living with HIV and rebuild their self-esteem.
Mr Boova also pointed out that there are many women in rural Africa who walk miles every day to see patients to ensure they are compliant with their medications. Medication alone does not help without the commitment of these women – and they have to walk many miles between patients each day and every day, whatever the conditions.www.beckman.com/cares

DiaSys celebrates 25th anniversary with essential product launches

New enzymatic test for HbA1c
The worldwide rapid rise in diabetes is a challenge for treatment as well as for diagnosis and monitoring. With the new test HbA1c net FS, DiaSys Diagnostics System has introduced an innovative product with highest accuracy setting new standards for reliable results in diagnosing and monitoring diabetes. Based on enzymatic measurement Hba1c net FS ensures highest specificity without interferences by hemoglobin variants as well as outstanding precision. Using the fully automated process including on-board hemolysis on the DiaSys analysers, BioMajesty® and respons®910, labs of every size can optimize their workflow for HbA1c.
Several other major product launches were made in time for DiaSys’ 25th anniversary. Under the trademark QDx DiaSys announced a point-of-care product line comprising test strips and devices for various diagnostic fields such as cardiac, vitamin D, allergy, anemia, lipids and urinalysis.  Furthermore, respons®910UP was presented offering improved handling and performance for the small to medium lab (up to 150 tests/hour).
25 years of success as a mid-size company in the challenging and ever changing market of in-vitro diagnostics – DiaSys takes this opportunity to thank all employees, customers and partners for their contribution and confidence and looks forward to a common prospering future.www.diasys-diagnostics.com

Can genetic testing determine antimicrobial susceptibility? EUCAST experts say not yet…

Experts at the European Committee on Antimicrobial Susceptibility Testing (EUCAST), who define the optimal drug concentrations to inhibit the growth of pathogens, have found that genetic methods cannot yet be used to test for susceptibility in a number of important bacterial species. Although there have been advances in whole genome sequencing (WGS), which allows to determine the DNA sequence of an organism’s genome at a single time, there are still several hurdles to overcome before this type of genetic testing can be used in clinical laboratories, they concluded.
A EUCAST subcommittee dedicated to reviewing the role of WGS in antimicrobial susceptibility testing (AST) considered the most recent published evidence on the use of whole genome sequencing as a tool for susceptibility testing. The group – comprising of over a dozen leading experts and led by Prof. Neil Woodford, Head of Public Health England’s Antimicrobial Resistance and Healthcare Associated Infections Reference Unit – did not rule out that it will one day be possible for a single assay to predict how a species of bacteria will respond to a specific antimicrobial drug, but there is little evidence to suggest we will reach this point in the near future.
EUCAST’s technical data coordinator, Prof. Gunnar Kahlmeter of the Central Hospital, Växjö, Sweden, said that it is premature to suggest that breakpoints and recommendations for phenotypic susceptibility testing will no longer be required as genetic methods will supersede them any time soon. “To be of use in a clinical situation, WGS will need to predict antimicrobial resistance and also antimicrobial susceptibility, which are two quite different things. It will also be necessary for WGS to quantify the degree of resistance for an organism, something which is currently not possible.”
The group has chosen to compare how WGS can predict whether or not the organism belongs to the wild type (is without resistance mechanisms) with the same prediction performed through the use of the epidemiological cut-off values (ECOFFs) developed by EUCAST. Whether or not and in that case how this can be extended to clinical breakpoints is discussed in the paper.
The EUCAST subcommittee also highlighted that there is currently no way to assess how accurate different WGS laboratories are, and that there is an urgent need to establish a single public database of all known resistance genes within different bacterial species so that data can be shared and compared more easily.
The EUCAST experts also note that WGS technology is currently limited because it cannot be used to analyse specimens directly – bacteria can only be sequenced once they have been cultured. This inevitably leads to significant time delays and additional financial costs, which is usually prohibitive for most laboratories.
EUCAST recommends that whole-genome sequencing should be made a research and funding priority in the future to expand on our current knowledge and to develop more sophisticated prediction tools. As bacteria continue to develop multiple resistance mechanisms, unravelling the genetics of their interaction with antimicrobials will become even more challenging and even more necessary, particularly as we face the spectre of extreme drug resistance and global failure of some antimicrobials.www.escmid.org

First use of graphene to detect cancer cells

What can’t graphene do? You can scratch “detect cancer” off of that list.
By interfacing brain cells onto graphene, researchers at the University of Illinois at Chicago have shown they can differentiate a single hyperactive cancerous cell from a normal cell, pointing the way to developing a simple, non-invasive tool for early cancer diagnosis.
“This graphene system is able to detect the level of activity of an interfaced cell,” says Vikas Berry, associate professor and head of chemical engineering at UIC, who led the research along with Ankit Mehta, assistant professor of clinical neurosurgery in the UIC College of Medicine.

“Graphene is the thinnest known material and is very sensitive to whatever happens on its surface,” Berry said. The nanomaterial is composed of a single layer of carbon atoms linked in a hexagonal chicken-wire pattern, and all the atoms share a cloud of electrons moving freely about the surface.
“The cell’s interface with graphene rearranges the charge distribution in graphene, which modifies the energy of atomic vibration as detected by Raman spectroscopy,” Berry said, referring to a powerful workhorse technique that is routinely used to study graphene.
The atomic vibration energy in graphene’s crystal lattice differs depending on whether it’s in contact with a cancer cell or a normal cell, Berry said, because the cancer cell’s hyperactivity leads to a higher negative charge on its surface and the release of more protons.

“The electric field around the cell pushes away electrons in graphene’s electron cloud,” he said, which changes the vibration energy of the carbon atoms. The change in vibration energy can be pinpointed by Raman mapping with a resolution of 300 nanometers, he said, allowing characterization of the activity of a single cell.

The study looked at cultured human brain cells, comparing normal astrocytes to their cancerous counterpart, the highly malignant brain tumour glioblastoma multiforme. The technique is now being studied in a mouse model of cancer, with results that are “very promising,” Berry said. Experiments with patient biopsies would be further down the road.
“Once a patient has brain tumour surgery, we could use this technique to see if the tumour relapses,” Berry said. “For this, we would need a cell sample we could interface with graphene and look to see if cancer cells are still present.”
The same technique may also work to differentiate between other types of cells or the activity of cells.

University of Illinois at Chicago news.uic.edu/first-use-of-graphene-to-detect-cancer-cells

DNA markers distinguish between harmless, deadly bacteria

The virulent pathogen that causes the disease tularemia, or “rabbit fever,” was weaponised during past world wars and is considered a potential bioweapon. Through a new study of the coccobacillus Francisella, Los Alamos National Laboratory researchers are working to use DNA markers to discern related but relatively harmless species as they are identified and to provide a means to distinguish them from the harmful F. tularensis.

“This large study is particularly notable for having used 31 publicly available genomes plus select genes from about 90 additional isolates,” said corresponding author Cheryl Kuske of the Bioenergy & Biome Sciences group at Los Alamos National Laboratory.

The group’s work includes developing a comprehensive, genomics-based understanding of organisms and their environment as part of the Lab’s energy-security research into energy sources and their impact. “We conducted standard single and multi-gene comparisons with whole-genome approaches and identified potential virulence factors to discriminate new species from among the more traditional set. Thanks to coordination with the Centers for Disease Control and Prevention (CDC), we now have a framework to identify new isolates or environmental detections even if only partial information is available,” Kuske said.

Humans can easily develop tularemia through incidental contact with infected rabbits, cats, rodents or other animals (and the ticks or fleas that may be on them). The disease manifests in a variety of forms: fever and chills with joint pain, cough or pneumonia, or abdominal pain and distress. Fatality rates range, depending on the form of the disease, from 2 percent to 24 percent, according to CDC data. Due to this severity, the CDC has made tularemia a reportable disease, and like the pathogens causing anthrax and plague, it is considered a bioweapon.

Through detailed genome comparisons, sequence-alignment algorithms and other bioinformatics tools run on Los Alamos computers, the Los Alamos team identified features that differentiate among F. tularensis and other novel clinical and environmental Francisella isolates, providing a knowledge base for comparison of new sequences from clinical or environmental surveys.

“For residents of areas such as the Southwest, where tularemia outbreaks are endemic and potentially life threatening, having more identification tools at hand is extremely valuable,” Kuske said. The distribution of these isolates is global, however, suggesting a worldwide distribution of Francisella organisms that inhabit fish, ticks and a variety of environmental sources.

The team designated four new species groups within the genus; Francisella opportunistica, an opportunistic pathogen of immune compromised patients; Francisella salina and Francisella uliginis, environmental isolates from coastal seawater near Galveston, TX; and Francisella frigiditurris from cooling-tower water in California.

Los Alamos National Laboratory www.lanl.gov/discover/news-release-archive/2016/December/12.19-dna-markers.php

New biomarker predicts Alzheimer’s Disease and link to diabetes

An enzyme found in the fluid around the brain and spine is giving researchers a snapshot of what happens inside the minds of Alzheimer’s patients and how that relates to cognitive decline.

Iowa State University researchers say higher levels of the enzyme, autotaxin, significantly predict memory impairment and Type 2 diabetes. Just a one-point difference in autotaxin levels – for example, going from a level of two to a three – is equal to a 3.5 to 5 times increase in the odds of being diagnosed with some form of memory loss, said Auriel Willette, an assistant professor of food science and human nutrition at Iowa State.

Autotaxin, often studied in cancer research, is an even stronger indicator of Type 2 diabetes. A single point increase reflects a 300 percent greater likelihood of having the disease or pre-diabetes. Willette and Kelsey McLimans, a graduate research assistant, say the discovery is important because of autotaxin’s proximity to the brain.

“We’ve been looking for metabolic biomarkers which are closer to the brain. We’re also looking for markers that reliably scale up with the disease and have consistently higher levels across the Alzheimer’s spectrum,” Willette said. “This is as directly inside of the brain as we can get without taking a tissue biopsy.”

Willette’s previous research found a strong association between insulin resistance and memory decline and detrimental brain outcomes, increasing the risk for Alzheimer’s disease. Insulin resistance is a good indicator, but Willette says it has limitations because what happens in the body does not consistently translate to what happens in the brain. That is why the correlation with this new enzyme found in the cerebrospinal fluid is so important.

“It has a higher predictive rate for having Alzheimer’s disease,” McLimans said. “We also found correlations with worse memory function, brain volume loss and the brain using less blood sugar, which have also been shown with insulin resistance, but autotaxin has a higher predictive value.”

The fact that autotaxin is a strong predictor of Type 2 diabetes and memory decline emphasizes the importance of good physical health. Researchers say people with higher levels of autotaxin are more likely to be obese, which often causes an increase in insulin resistance.

Willette says autotaxin levels can determine the amount of energy the brain is using in areas affected by Alzheimer’s disease. People with higher autotaxin levels had fewer and smaller brain cells in the frontal and temporal lobes, areas of the brain associated with memory and executive function. As a result, they had lower scores for memory and tests related to reasoning and multitasking.

“Autotaxin is related to less real estate in the brain, and smaller brain regions in Alzheimer’s disease mean they are less able to carry out their functions,” Willette said. “It’s the same thing with blood sugar. If the brain is using less blood sugar, neurons have less fuel and start making mistakes and in general do not process information as quickly.”

Iowa State University www.news.iastate.edu/news/2016/12/19/alzheimersautotaxin

Detection system reads biomolecules in barcoded microgels

Single-stranded, noncoding micro-ribonucleic acids (microRNAs), consisting of 18-23 nucleotides, play a key role in regulating gene expression. Levels of microRNAs circulating within blood can be correlated to different states of diseases such as cancer, neurodegenerative disorders and cardiovascular conditions. Many microRNAs within the blood are encapsulated within exosomes, nanoscale vesicles released by the cells.

Accurate measurement of the quantity of microRNAs circulating within the blood is extremely challenging because of their short lengths, similar sequences and low concentration levels. Due to their small number of nucleotides, traditional polymerase chain reaction (PCR) detection methods must necessarily involve a ligation, or linking, step to produce longer complementary DNA strands. Such ligation often produces large biases.

Consequently, large volumes of clinical samples typically required to obtain accurate measurements, but few conventional detection systems can handle this directly without proper sample preparation and volume reduction.
A team of researchers in Italy from the Istituto Italiano di Tecnologia and the University of Naples Federico II, both in Naples, set out to develop a simple, ultrasensitive fluorescence detection system of in-flow microRNAs that uses spectrally encoded microgels.

As the team reports in Biomicrofluidics until now such a multiplexed barcode detection approach has only been performed in time-consuming observation procedures, significantly hindering its possible diagnostic performance.
‘Our technological achievement rests upon the straightforward implementation of a seemingly real-time, microfluidic-based readout of microRNA sequences of interest, handling down to a few microliters of target volume,’ explained Filippo Causa, an associate professor of industrial bioengineering in the Department of Chemical, Materials Engineering, and Industrial Production at the University of Naples Federico II. ‘No previous RNA sequence amplification is required, which reduces evident sources of measurement errors.’
To do this, the researchers first explored a cost-effective and biocompatible non-Newtonian fluid to create the optimal 3-D alignment of microgels in the center of a square-shaped glass capillary.
They then used a simple microfluidic layout to flow the microgel and allow a continuous measurement of the fluorescence signal with several emission wavelengths for the multiplexed barcode detection.

‘We chose microgels with non-overlapping fluorescence-emitting molecules designed to distinguish spectral barcodes for multiplex analysis … and to obtain an absolute quantification of microRNA sequences,’ said Causa. ‘The precise microgel alignment at various throughput rates and an automatic microRNA sequence intensity normalization in flow gives us an opportunity to obtain reliable measurements, similar to quiescent measurement results, without any fundamental pretreatments of the measurement sample.’

To prove their concept of this multiplex spectral microgel analysis within a microfluidic flow, the team used ‘different barcodes corresponding to different emissions at specific wavelengths and the fluorescence intensity of known microRNA concentration,’ which was measured for calibrations of the specific microRNA being explored. Causa said, ‘So far, nine different microgel barcodes have been tested in flow with our detection approach, and more codes are being prepared to multiplex it further.’

As a proof of principle, the team explored microRNA based on its significance to the pathogenesis of various malignant tumors including prostate, gastric, colon, breast and lung cancers.
‘We were able to specifically detect, count and identify in a quasi-real-time manner hundreds of microgels (~80 microgel particles per minute) at sample volumes of only a few microliters,’ said Causa. ‘Our system achieved a microRNA detection limit of 202 femtoMolars in microfluidic flow conditions.’

Measurements were performed with different microgel barcodes and one in particular focused on specific microRNA targets, demonstrating the specificity of the assay for multiplex measurement conditions.
‘A microRNA 21 concentration of 0.74 picoMolars was detected in flow, which is consistent with the initial sample concentration level,’ Causa said. ‘Out of such fluorescence acquisitions, an absolute quantification of the microRNA 21 concentration level was possible.’

In terms of applications for the system, since the specific target detection of microgels can be easily tuned, it can be applied to a wide range of different biomarkers thanks to its barcode structure.
‘Users can also easily adjust its readout speed specifically for any microscopic system,’ said Causa. ‘This means that the system will open up new options for biosensing particles within microfluidic devices.’

PHYS.ORG phys.org/news/2016-12-biomolecules-barcoded-microgels.html

Important element of immune defence against fungal infections discovered

Fungal infections are a serious health risk. They can be harmful especially to patients whose immune system is compromised through illness or chemotherapy. A team working at the Technical University of Munich (TUM) has discovered an important mechanism in the body’s defences against fungi. The discovery explains, among other things, why people with certain genetic variations are more susceptible to fungal infections.

To fight pathogens such as viruses, bacteria and fungi, the body has a complex security system. The widespread notion of white blood cells operating as the ‘body police,’ tracking down and incapacitating invaders, falls far short of adequately describing how the immune system actually works. Before the body’s defence response gets started, complex chains of biochemical reactions occur at the molecular level. The scientists studying a certain immune reaction are often not yet aware of all links in these chains.

This is true, for example, in the case of the innate immune response to certain fungi studied by the team under Professor Jürgen Ruland, who holds the chair in Clinical Chemistry and Pathobiochemistry at TUM. It was known that the reaction began with protein elements known as C-type lectin receptors of blood and tissue cells recognizing certain molecules on fungus cells and triggering the chain reaction, also known as a signal pathway. It has also been known for some time that the protein CARD9 plays an important role in this chain. Only when CARD9 is present is it possible for the body to trigger an immune response that destroys the fungus cells.

Jürgen Ruland and his team demonstrated that before CARD9 can perform its role in the chain, molecules known as Vav proteins must be active. Three of these proteins occur in the human body: Vav1, Vav2 and Vav3. If all three are deactivated, the body is particularly susceptible to fungus infections even if CARD9 is present. As signal molecules, the Vav proteins play a role in various processes, including immune responses. ‘Previously, however, the functions of the Vav proteins were understood mainly as part of the acquired or adaptive immune system. Their functions in the innate immune response, which is the focus of our work, remain largely unexplored,’ explains Dr. Susanne Roth, the first author of the study. As the name suggests, the acquired immune response means that the body learns to fight off certain substances only in the course of a person’s life. By contrast, the substances resisted by the innate immune response are genetically determined before birth.

The researchers were also able to use patient data to demonstrate the importance of Vav proteins for innate immunity: A certain genetic variation was disproportionately represented among a group of people suffering from candidiasis, a yeast infection. The variation causes the protein Vav3 to occur in a slightly modified form. It was the absence of Vav3 that had the strongest impact on the immune response in past experiments.

The newly discovered role of the Vav proteins could be used in the future to design diagnostic approaches. ‘It would be conceivable to develop a risk profile for chemotherapy patients,’ says Jürgen Ruland. He suggests that genetic analysis could be used to determine which patients might be more susceptible to fungal infections.

EurekAlert www.eurekalert.org/pub_releases/2016-12/tuom-ieo121916.php

Technology and innovation on show at MEDLAB 2017

With the medical laboratory market in the UAE expected to continue on a growth trajectory, innovative products and next-generation technology remains a focus for the region’s medical laboratory and IVD industry

Dubai, UAE, 25th January 2017: As the UAE gears up for a boom in the In-Vitro Diagnostics (IVD) market, expected to reach USD 0.83 billion by the end of 2020[1], the medical community has turned its focus towards exciting new products and technologies to keep up with the demand for new diagnostic capabilities that can have a real impact on improving the health of patients across the region.
MEDLAB Exhibition & Congress, the world’s leading event for laboratory management and diagnostics, which takes place on 6th – 9th February 2017 at the Dubai International Convention & Exhibition Centre, presents a huge opportunity for global laboratory industry leaders, including manufacturers, dealers and distributors, to showcase new innovations and to introduce some cutting-edge products to the UAE market. More than 30,000 visitors are expected to attend the four-day exhibition where they can explore over 400 products and services from more than 700 exhibitors from 38 countries.
A number of companies associated with ABIMO (Brazilian Medical Devices Manufacturers Association) will be at MEDLAB to showcase products and services including diagnosis and laboratory reagents, IVD, devices for medical tests, laboratory tests, laboratory refrigerators and products for hematology.
According to Clara Porto, ABIMO’s marketing and exports manager, “There is almost no national production of the sector and, as such, the region is quite dependent on imports. Generally, there is a great acceptance of Brazilian products so we expect to make good contacts and profitable deals at this year’s show.”
Binding Site, one of the largest independent providers for IVD tests and equipment in the United Kingdom, will be at MEDLAB to launch its latest protein system that can process complex protein assays 40% faster than current systems. Charles de Rohan, CEO from Binding Site commented: “We wanted to bring simplicity to complex analytical processes. The result is Optilite, the latest innovation in special protein testing, which offers laboratories reliable results without compromising speed and efficiency.”
Meanwhile, Sysmex Corporate, one of the leading international providers of solutions for systemising processes for medical laboratories, will be at MEDLAB to showcase their new urinalysis series. For the first time, they are offering an ‘all-in-one’ series of analysers that will allow you to examine both through chemistry and sediment, followed by imaging and validation.
Another exhibitor bringing something new to the market is American Medical Technologists (AMT), an internationally recognised certification agency for allied health professionals, who will promote a set of practice exams for its respected laboratory certifications including Medical Technologists (MTs), Medical Laboratory Technicians (MLTs) and Phlebotomists.
“With a new practice test for those preparing to take the certification exam for medical technologist through AMT, candidates have an important tool to take them a step closer to becoming certified members of the clinical laboratory community,” said Christopher Damon, JD, Executive Director of AMT.
This year at MEDLAB, a selection of free workshops will also be available for all industry professionals offering learning and training opportunities from leading international IVD and laboratory companies. The free workshops are an addition to MEDLAB’s conferences, which will span from blood transfusion medicine, laboratory informatics, clinical diagnostics of cardiology and diabetes, to laboratory management, microbiology, immunology and clinical chemistry.
Dr Mansour Al-Zarouni, Member, General Secretariat Committee at Sultan Bin Khalifa International Thalassemia Award (SITA) and Chair of MEDLAB said: “With new cutting edge innovations having a lifecycle of approximately 24-48 months, it’s crucial for this congress to play a role in connecting and merging pre-existing gaps between clinicians and laboratory professionals, through the conferences, to ensure everything is done to improve patient care outcomes.”
According to Simon Page, Managing Director of Informa Life Sciences Exhibitions, the Organiser of MEDLAB: “It is not enough for our visitors to simply view the new technologies from afar – we want them to get a hand-on experience of these products through the free workshops directly offered by the manufacturers. For example, LabCorp from the USA and National Reference Laboratory in the UAE are coming together to host a workshop on coagulation reference testing to discuss the significance of the coagulation reference laboratory.”
“Another example is Sidra’s workshop, the Pediatric Pathology symposium, which will address anatomical pathology, hematopathology, microbiology and molecular microbiology, clinical chemistry, and genetics, which will be led by international experts and attended by pathologists, lab physicians and scientists in the region, who work with pediatric specimens”, he added.
MEDLAB Exhibition & Congress is supported by the UAE Ministry of Health & Prevention, Health Authority Abu Dhabi, Dubai Health Authority, Dubai Healthcare City Authority, Jebel Ali Free Zone, College of American Pathologists, Clinical and Laboratory Standards Institute and the Saudi Society for Clinical Chemistry.
For more information about MEDLAB Exhibition & Congress, please visit www.medlabme.com

[1] UAE In-Vitro Diagnostics Market – Growth, Trends & Forecast (2015-2020), August 2016

How 1 000 new genetic variants were discovered in blood groups

1 000 new mutations in the blood group genes: that is what physician and former programmer Mattias Möller found in his research study in which he developed new software and investigated blood group genes in 2 504 people.

The international project 1000 Genomes is so far the world’s largest mapping of human genetic variants. By creating a new computer program, Mattias Möller processed the genomes of 2 504 people. He imported these genomes to his newly developed database Erythrogene, and matched them against previously known genetic variants. The result was the discovery of 1 000 hitherto unknown mutations which could have a negative effect in the case of blood transfusions, for example.

“Never before has there been a worldwide mapping of blood group genes in healthy individuals. Most previously known blood group variants were discovered when a blood transfusion failed, i.e. when it didn’t work between the donor and the recipient. I started from the genes instead, to find variations in DNA which might give rise to a new antigen, likely to cause problems in case of transfusion, for example”, explains Mattias Möller, doctoral student at the Department of Laboratory Medicine.

On the surface of the red blood cells are proteins and sugar molecules, in which small differences give rise to different antigens. The ability to identify and match blood group types is important for blood transfusions, but also in pregnancy and before certain types of transplantation. A transfusion with mismatched blood can lead to a transfusion reaction. This type of reaction can be mild and barely noticeable, or so strong that the blood cells rupture and, in the worst cases, the patient dies.

Mattias Möller’s study showed that 89 per cent of the genetic variants were previously known, but among the remaining 11 per cent were a total of 1 000 different mutations which were absent from official catalogues of known blood group variants.

“Of course not all variants lead to new antigens. But we need to go on and conduct further analyses to investigate how the genetic expression changes, i.e. how the molecules on the surface of the cell are affected.ˮ

There are currently 352 mapped antigens, but the research has so far mainly focused on populations in Europe and North America. A future research field is Africa, where there is greater variation between different population groups. As research on African populations increases, in combination with blood transfusions becoming more common there, many new antigens are likely to be discovered.

Lund Universitywww.lunduniversity.lu.se/article/how-1-000-new-genetic-variants-were-discovered-in-blood-groups