Category Archives: Genetics

Genetics

The importance of choosing dairy calves with the right genetics for beef production – Agriland

Richie Long who farms in Ballymacarbry in Co. Waterford is a participant in the Teagasc Green Acres Calf to Beef Programme.

Richie finishes both early maturing and continental calves originating from his brothers dairy farm.These calves are finished as steers and heifers at 20-24 months-of-age.

With this arrangement, theres potential for Richie and his brothers, Michael and Liam, to work together in terms of the beef sires being used.

In addition, Richie can also be confident that the calf has been managed correctly in terms of colostrum and nutrition in the early days of life, which allow the animal to reach its weight targets in future months.

In the short video (below), the Co. Waterford-based farmer gives us a quick run through of the system operated on the farm, along with some of the changes he has made during the first year of the programme, while also outlining his plans for the future.

As AgriLand previously reported last April,for the 2019 breeding season, a team of eight beef bulls of various breeds have been selected that are positive for carcass weight and conformation, without being excessively hard-calving for the dairy herd.

After examining the cows and having been briefed on the background to the herd including parity, genetic background and calving pattern Hereford, Limousin, Belgian Blue, Charolais and Aubrac bulls were selected.

The calving difficulty of the bulls selected range from 3.2% up to 7.8%, with the easier calving bulls targeted at younger and smaller cows, while those of higher calving difficulty will be mated to older cows with a proven track record of easy calving.

Some of the calves from the above sires have now arrived on Richies farm (see video below).

In the following video, as part of the Calf Health and Management Series, National Cattle Breeding Centre (NCBC) and Munster Bovines Rose Goulding who was involved in choosing suitable sires for the calf-to-beef enterprise details how both dairy and beef farmers can build relationships and work together to produce calves that are suitable for beef production, without affecting dairy herd performance.

Rose talks us through the genetic makeup of the calves and outlines the sire selection process and why certain sires were used on different groups of cows.

Commenting on the benefits of this type of relationship, Rose said: Thepartnership here can be replicated across the cattle industry in Ireland, whereby the dairy farmer understands the beef farmers needs and visa versa.

Its a win:win situation for both parties. When they work together, the dairy farmer understands more about the beef farmers needs.

But, the beef farmer also needs to understand the dairy farmers needs, so its a real working relationship and it can really be a win:win scenario, she concluded.

Part 1:Video series: The complete guide to buying and rearing dairy-beef calvesPart 2:Video: What can I pay for dairy-beef calves?Part 3:Video: What questions should I ask dairy farmers when sourcing dairy-beef calves?

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The importance of choosing dairy calves with the right genetics for beef production - Agriland

Genetics

Ancient Wheat Genome Reveals Clues to the Agricultural Past – The Scientist

As soon as he learned about the existence of ancient wheat specimens at University College Londons Petrie Museum of Egyptian Archaeology from a 2018 BBC documentary, Richard Mott of the UCL Genetics Institute wanted to study them. The samples likely contained bits of ancient wheat DNA, he reasoned, which could yield valuable insights into the history of cultivation of this all-important crop species.

Archaeobotanists at UCL helped Mott and a team of collaborators choose a handful of well-preserved husks from the museums collection of ancient emmer wheat, a variety native to the Near East and one of the first crops to be domesticated in the region, from which the researchers selected two husks for DNA extraction. After carefully removing the husks from the box, photographing them, and wrapping them in foil, the scientists transported the centuries-old plant material to a freshly bleached cleanroom used exclusively to process ancient and forensic samples.

Its fascinating to see this gene flow happening in an area important for human history.

M. Timothy Rabanus-Wallace, Leibniz Institute of Plant Genetics and Crop Plant Research

There, team member Laura Botigu, a population geneticist and visiting researcher from the Centre for Research in Agricultural Genomics (CRAG) in Barcelona, Spain, donned a hairnet, two Tyvek suits, two pairs of latex gloves, and a maskpart of a protocol designed to avoid contaminating the samples with her own cells. Uncertain how the delicate husks would hold up to the standard decontamination protocol of bleaching the samples, Botigu bleached one and left the second untouched. Then, to lyse the plants cells, she put the samples in a rotator that gently shook the husks inside an oven over the next several days. Finally, she used a centrifugation protocol to separate any DNA from the degraded cell walls and proteins.

Once the samples had been prepped and delivered to the UCL Genomics facility for sequencing, it was a waiting game to see if the procedure had yielded any readable wheat DNA. This is the more stressful part, Botigu says. Because they lack the type of protective collagen matrix found in bones, plants dont preserve ancient DNA as well as animals. You finish, the DNA is theoretically extracted, but you dont see it in the tube, says Botigu. Youre in the blind until you hear back from the sequencing services.

Within just a few weeks, the team got good news. For the husk that Botigu had bleached, about two-thirds of the reads aligned with genomes of modern wild and domesticated emmer wheat varietiesa relatively good success rate for ancient DNA, according to evolutionary geneticist Michael Scott, a postdoc in Motts lab who conducted the bio-informatics analysis of the sequences. The first surprise was how well it worked, he says. It appears that the dry conditions in Egypt were good for DNA preservation. The unbleached husk had yielded a smaller quantity of sequences, but those fragments mostly matched the ones in the bleached sample, validating the identity of those sequences as coming from the ancient wheat samples rather than from contaminants.

The museum wheat, which carbon dating showed was from between 1130 and 1000 BC, was genetically much more similar to modern domesticated varieties than to modern wild ones, suggesting that the plant lineage the samples came from had already been domesticated. Specifically, the sequences most resembled those of modern domesticated strains grown in Turkey, Oman, and India. There was also evidence for genetic exchange between the museum wheat strain and the wild emmer wheat that grew in the Levant, a large region in the Eastern Mediterranean that was a center of agricultural development in the Neolithic period, and where emmer was first cultivated. The genetic exchange could have occurred before the wheats introduction to Egypt from the Levant, says Scott. Alternatively, its possible that the ancient Egyptians wheat was able to interbreed with wild wheat in the Southern Levant thanks to interactions between the people in the two regions.

ANCIENT HUSKS: These wheat specimens were analyzed for ancient DNA by researchers at University College London.

CHRIS STEVENS

With big data and with a really good analysis method they were able to detect this gene flow, says M. Timothy Rabanus-Wallace, an agricultural geneticist at the Leibniz Institute of Plant Genetics and Crop Plant Research in Germany who coauthored a perspective published alongside the study in Nature Plants last October. Its fascinating to see this gene flow happening . . . in an area important for human history.

The bioinformatics analysis also uncovered some genetic variants in the ancient samples that werent found in any of the modern emmer wheat genomes the researchers studied. If these variants helped the wheat survive in arid locations around the Near East, perhaps introducing those sequences into modern varieties could help make them more sustainable or more drought resistant, Scott says, though he admits that this is very much just an idea.

The detection of ancient genetic variation is a notable achievement because wheat genomes are largethree to five times the length of a human genomeand repetitive, making the analysis . . . incredibly complex, says James Breen, head of the bioinformatics core at the South Australian Health and Medical Research Institute who reviewed the study and coauthored the perspective with Rabanus-Wallace, a PhD student in his lab at the Australian Centre for Ancient DNA at the time. So being able to find unique pieces of DNA in that genome is very difficult. He adds that after a couple of additional validation tests performed by the UCL team, he was convinced that the data that came out was legitimately ancient.

Botigu and Scott emphasize that the study is primarily a proof of concept that museum-kept plant samples can yield readable genetic material. We were able to look at DNA from specimens that had been stored in the museum for over 90 years without special preservation conditionsthe museum was actually even bombed and flooded during wartime, says Scott. We think our study helps demonstrate the importance of museum collections as sources of genetic data, whichin combination with new samplescan be used to uncover the history of selection on crops and their movement around the globe.

I think thats one of the biggest values of ancient DNA in plants, adds Nathan Wales, an archaeologist at the University of York who was not involved in Scott and Botigus studyto draw connections between different cultures and the different agricultural products they were growing and trading, and seeing how that changed over time.

Jef Akst is managing editor of The Scientist. Email her atjakst@the-scientist.com.

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Ancient Wheat Genome Reveals Clues to the Agricultural Past - The Scientist

Genetics

Study reveals how cardiorespiratory function is related to genetics – Devdiscourse

Researchers say that the effect of high altitudes on people's breathing and its coordination with the heartbeat is due to genetic differences. Clear physiological differences have already been demonstrated between people living in the Himalayas and Andes compared with people living at sea level, revealing an evolutionary adaptation in the control of blood flow and oxygen delivery to the brain and the rest of the body.

Now an international team led by Professor Aneta Stefanovska of Lancaster University has identified genes that are related to cardiorespiratory function during so-called acute periodic breathing. Their report is published in the Journal of Physiology. Periodic breathing (PB) occurs in most humans at high altitudes and is characterised by periodic alternations between hyperventilation (too-fast breathing) and apnoea (no breathing). The altered respiratory pattern due to PB is accompanied by changes in heart rate and blood flow.

Breathing, ECG of the heart and microvascular blood flow were simultaneously monitored for 30 minutes in 22 healthy male subjects, with the same measurements repeated under normal and low oxygen levels, both at real and simulated altitudes of up to 3800m. As part of the experiment, the participants were also taken in a cable car to a high altitude laboratory at the top of Aiguille du Midi mountain in Chamonix in France and tested immediately on arrival and after six hours at this altitude of 3842m.

The researchers found that orchestration between the participants' hearts and lungs, as measured by phase coherence, responded differently to periodic breathing depending on whether they had one of two specific genetic variants affecting the cardiorespiratory response to insufficient oxygen. Chronic periodic breathing is generally seen as an unfavourable state, being associated with increased mortality in chronic heart failure, but in healthy people, it may be an indication of better alertness to oxygen insufficiency at high altitudes.

Hypoxia, as well as occurring during rapid ascents to high-altitudes, can also be a significant problem at sea-level, being a contributory factor in many health conditions including cancer, strokes, and heart attacks. Professor Stefanovska said: "The similarities between hypoxia-induced PB at altitude, and the breathing characteristics observed in certain pathological states, provide an opportunity to further our understanding of the physiological processes involved in chronic hypoxic states that occur even when oxygen is abundant.

"Considering living systems as collections of interacting oscillators whose dynamics is governed by multiple underlying open systems enables the observation of functional changes over time, and investigation of how they are altered in health and disease." (ANI)

(This story has not been edited by Devdiscourse staff and is auto-generated from a syndicated feed.)

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Study reveals how cardiorespiratory function is related to genetics - Devdiscourse

Genetics

Moffat County wolves open up a new pack of issues – The Grand Junction Daily Sentinel

A wolf pack in Moffat County has upended one of Colorados most controversial wildlife management debates, prompting voters, legislators and wildlife officials to wonder what course to chart on wolf reintroduction and management.

In mid-February, Colorado Parks and Wildlife confirmed through DNA tests on scat samples taken from Moffat County that a pack of at least four wolves was present in Colorado. The four were siblings, three females and one male.

This is the first time weve documented a group of wolves, a pack of wolves in the state since they were extirpated in the early 1940s, said Eric Odell, wildlife species conservation program manager.

These wolves were confirmed by Parks and Wildlife less than a month after a Colorado petition was certified giving voters the chance to weigh in on wolf reintroduction.

The pack coming into the state was a real reset in the conversation because, of course, before that the wolf reintroduction conversation was centered around the proposed ballot initiative, which has now gained signatures, said Colorado State Sen. Kerry Donovan, who is working on the issue in the Legislature. With the pack coming into the state, and with both sexes represented within the pack, we now have a management issue as well that the state isnt perhaps entirely prepared for.

Representatives of the Colorado Stop the Wolf Coalition have said the presence of this pack and its three females that could reproduce will make reintroduction unnecessary. But wildlife biologists say the presence of Craigs newest neighbors doesnt mean a re-established wolf population in Colorado is a done deal.

Another two wolves were observed by Parks and Wildlife staff, but genetic testing on those two has not been confirmed. More scat has been tested, but the full results have not been released. The genetics of those two animals are critical in understanding whether this pack is the start of a full wolf recovery in Colorado or an anomaly.

Its built into their social system to avoid mating with relatives, so they would not form a mated pair, University of Colorado-Denver Professor Diana Tomback said of the sibling wolves. The perpetuation of this pack is going to depend on what the genetic relationship is of the other two members.

Tomback, a conservation biologist who served on the science committee of the Rocky Mountain Wolf Project, said there are still too many unknowns to determine the future of these wolves. However, having a breeding pack in Colorado may not be enough for the species to recover, she said, without more wolves to provide genetic diversity.

If you actually go by the guidelines used by U.S. Fish and Wildlife to determine whether a population is recovered, it has to populate enough range and be there with enough population size to be able to withstand disturbances and challenges that are natural to their environment, Tomback said. From the perspective of genetic diversity, this one pack is inadequate.

Other wolves make the trek from the northern Rocky Mountains to Colorado, Odell said. Between 2004 and 2019, six gray wolves were photographed or killed in Colorado. More would have to make that journey and find this pack for the population to expand.

One pack is a start to establishing a population, but it does not meet the (U.S. Fish and Wildlife Service) definition of a wolf population two or more packs successfully reproducing for two or more years, Odell said. Genetic diversity is important, and only one pack does not provide that needed diversity.

Wolves have spread this way in the past. Gray wolves were reintroduced to Yellowstone National Park and Idaho in the mid-1990s and expanded their populations in Idaho, Wyoming and Montana. Today, more than 2,000 wolves are estimated in those three states.

In the early 2000s wolves started to pop up in Oregon, which sits across the Snake River from Idaho, said Michelle Dennehy, communications coordinator for the Oregon Department of Fish and Wildlife. One was killed crossing a road. Another was found shot. All were lone wolves, known as dispersers, that had left packs to search for mates.

In 2008, a wolf from Idaho crossed the Snake River and gave birth, starting the first pack in the state.

In 2009, Oregon confirmed a second pack, she said. By 2010, both packs were giving birth to pups.

We didnt do any translocation, Dennehy said. Everything is here naturally or reproduced naturally and weve gone from, if you just look at the numbers, from 10 in 2009 to 137 at the end of 2019.

Oregon and Colorado are not a one-to-one comparison when it comes to wolf migration though, Tomback said. The major obstacle between Idahos estimated 1,000 wolves and northeast Oregon is the Snake River. While it is a difficult river to cross, many wolves have done it. According to the latest Oregon Wolf Management Plan, Radio-collar data shows that dispersing wolves immigrate to and emigrate from Oregon, indicating that Oregon is part of a metapopulation with Idaho and Washington.

THE HARD ROAD TO COLORADO

In Wyoming, wolves in the northwestern portion of the state are managed with some hunting allowed in areas outside Yellowstone National Park. In the rest of the state, wolves are considered a nuisance species and can be killed with no limit, Odell said.

A wolf must make a 120-mile trek from the southern edge of Wyomings Wolf Trophy Game Management Area through high desert hills, sagebrush seas, canyons and across Interstate 80 to get to the Colorado border. During that trip, by Wyoming law, they can be killed without limitation.

It is a challenge and this does seem to be the first time two individuals, a male and a female have made it down and found each other and successfully reproduced, Odell, with Colorado Parks and Wildlife, said. Wolf management in Wyoming, they manage it as a game species in the northwest part of the state and, then outside of that its a varmint species, so there is quite a challenge for animals to cross that landscape.

Because of the difficulty in crossing through southern Wyoming, Odell said this pack is likely a mated pair that produced pups in or near Colorado.

Denny Behrens, Colorado Stop the Wolf Coalition co-chairman and regional director for Big Game Forever, said this natural reproduction and the known instances of wolves dispersing into Colorado in the past make further reintroduction efforts, like the initiative that will appear on the November ballot this year, moot.

Theres no need for introduction in this state, Behrens said. They are naturally dispersing out of the nonessential experimental area up in Wyoming and so its the same thing. Theyre moving into Washington and Oregon and California.

Tomback said she is skeptical that dispersing wolves will make it to Colorado frequently enough to provide the necessary genetic diversity to ensure the continued survival of the population.

If people want to reintroduce wolves into Colorado, its going to take more than waiting for this to happen, Tomback said. The last 25 years have shown that, yes, individual wolves may disperse and make it down, but theyre not able to find another wolf of the right sex and form a pack. So wolf reintroduction, scientifically, the reality is its going to take some help to get that genetic diversity and to get the numbers down where wolves can form packs with each other.

Donovan has proposed a bill to provide for the reintroduction of wolves, but only after a funding source has been identified to pay for wolf management and reimbursement to ranchers who lose livestock to wolf depredation. It also gives five years for the current wolf population to establish naturally before moving forward with reintroduction.

Donovan said she was pursuing the legislation to take a deliberative approach to the question of wolf management and reintroduction, but she said many unknowns still surround the states lone pack.

We will have to see if they settle down in a range, if they reproduce this spring, Donovan said. Right now, we dont know if we have a roaming pack of teenagers or if we have a group thats looking to settle down in Colorado.

While the first pack in Colorado is historic being the first to cross that hostile terrain, find each other and perhaps settle here for good they are only the start of what could mark the first return of a real population of wolves in the state in 80 years, Odell said. Whether through human reintroduction or from wolves dispersing from the north, the formation of more packs will be needed if wolves are going to once again range widely throughout Colorado.

With a ballot initiative coming in November, a bill proposed in the Senate and at least six wolves wandering through northwest Colorado wilderness, Donovan said looking into all the issues wolves represent is now more important than ever.

We have wolves in Colorado and we suspect that delisting could come out of D.C. sooner rather than later, Donovan said. I think it is a perfect time to look at these issues in a very thoughtful way with the folks in the room who are most excited about having wolves in the mountains again and what that means and the people in the room who are most concerned about what it means to have a federal land lease and a wolf pack as your neighbors.

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Moffat County wolves open up a new pack of issues - The Grand Junction Daily Sentinel

Genetics

Shared Genetic Variants Associated With Migraine and Multiple Sclerosis – Neurology Advisor

WEST PALM BEACH, FL Migraine prevalence was significantly higher among patients with multiple sclerosis (MS) compared with healthy controls, with several genetic variants being shared between migraine and MS, according to research presented at the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) 2020 Forum held from February 27 to 29, 2020, in West Palm Beach, Florida. Several variants were found to increase migraine risk but decrease MS risk; these findings may lead to improvements in targeted treatments and therapies.

Although symptoms and risk factors for migraine and MS often overlap, and up to 69% of patients with MS suffer migraine, it is unknown whether these 2 disorders are independent or have a common biological etiology, such as genetics. The current study used data on 1094 patients with MS and 12,176 control participants who were Kaiser Permanente Northern California Health Plan members to investigate if any genetic variants independently associated with migraine or MS could be identified from genome-wide association studies that are shared between both conditions.

Migraine status was determined via self-report and validated electronic health record algorithm. Prior genome-wide association studies of MS or migraine were used to identify variants, and after quality control, investigators analyzed 902 variants with minor allele frequency greater than 1%. Observed and permuted P for each phenotype were obtained from logistic regression and compared with identify variants associated with both phenotypes. Logistic regression models were adjusted for sex and ancestry among any variants that had significant associations with both phenotypes.

The migraine model was adjusted for a propensity score representing the probability of MS case-control status to account for potential ascertainment bias from obtaining a secondary phenotype from a case-control study.

Among the 1094 patients with MS, the mean age was 49.95 years old (SD=9.02) compared with 49.01 years old (SD=8.92) for controls. Women made up 79.98% of MS cases and 80.60% of controls. Median MS Severity Score was 3.21 (SD=2.43). Migraine incidence was significantly higher (P <.05) among MS cases (40%) compared with controls (29%). Preliminary results found 5 genetic variants (rs6677309, rs10801908, rs1335532, rs62420820, and rs17066096) that were significantly associated (P <.05) with both MS and migraine. Three of these were protective for MS (rs6677309, rs10801908, and rs1335532), and all variants increased odds of migraine.

Study investigators concluded, Results showed the prevalence of migraine was significantly higher among individuals with MS compared [with] healthy controls.Several genetic variants were shared between MS and migraine, and implicated genes include CD58, which modulates regulatory T-cells, and several immune genes (IL20RA, IL22RA2, IFNGR1 and TNFAIP3) within the 6q23 chromosomal region. Because several variants increase risk of migraine but decrease risk of MS, there may be implications for targeted therapies and treatments.

Visit Neurology Advisors conference section for continuous coverage from the ACTRIMS 2020 Forum.

Reference

Horton M, Robinson S, Shao X, et al. Discovery of shared genetic variants associated with multiple sclerosis and migraine. Presented at: 5th Annual Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) Forum; February 27-29, 2020; West Palm Beach, FL. Abstract P140.

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Shared Genetic Variants Associated With Migraine and Multiple Sclerosis - Neurology Advisor

Genetics

Q&A: ‘We can diagnose more than 4000 rare diseases but there’s still a long way to go’ – Horizon magazine

IRDiRChad two goals to achieve by 2020: to contribute to the development of 200 new therapies - which you have exceeded and to facilitate the diagnosis of most rare diseases. How are you faring?

'We surpassed the goal for new therapies in 2016. There has been a great deal of progress in diagnosis too. In 2010 there was a genetic test available for 2,200 rare diseases, and by 2019 that figure was over 4,000. There is still some way to go.

'There are several thousand (rare diseases; more than 6,000 have been found so far), which seems really daunting. But we are in a new era of systems biology (which tries to understand the body as a whole) and international cooperation that is delivering great progress towards diagnosing and treating more and more of these diseases.'

Do most rare diseases have a genetic cause?

'Genetics is estimated to account for between 70% and 80% of all rare diseases. Those that are left dont yet have a name and have not yet been associated with a genetic variation (which would allow a diagnostic test), but often there is some family history that suggests they are genetic.

'There are also some rare infectious diseases, rare autoimmune diseases and rare cancers that are not genetic in origin. And these are trickier to diagnose.'

What exactly are we talking about when we say a disease is rare?

'There is a legal definition for rare diseases, but it is different depending on where you are in the world. A disease is considered rare in Europe if it affects fewer than one in 2,000 people. In the US, however, a rare disease is one that affects fewer than 200,000 people over the whole population. This means there is a subset of diseases close to the threshold that are considered rare in one country but not in another. But most rare diseases are a lot rarer than that. Some of the rarest affect just 10 in a million people. They are the rare among the rare.'

What difference can a diagnosis make to patients?

'Giving a name to a disease is a major step forward for patients and families, even if it doesnt bring an immediate benefit to their quality of life. From my personal experience here in Italy, we see families spend years on what is called the diagnostic odyssey, wandering from one hospital and test to another. Having a diagnosis allows them to close this page of their lives where they are in total darkness. And while there might not be a therapy available, the diagnosis can relate the disease to a group of other diseases where a standard of care is already available, such as using diet, physiotherapy and palliative care.

'It also has a social impact as it allows families to connect to others with similar problems, and they can share experiences with each other. One parent might find their child sleeps better if they do something with them before bed, or give them particular exercises. So, it brings improvements in everyday life. It also brings some hope of an end solution of a treatment or a cure, although many parents are realistic about how long this may take.'

How exactly are you helping more rare diseases to be diagnosed?

'There are two developments that have really accelerated the identification of genetic defects associated with rare diseases.

'The first is next generation sequencing, which allows large-scale genetic analysis to be done far more rapidly than it was before. The other is tools that allow the comparison of results from patients that live very far away. One of these, known as the Matchmaker Exchange, means that a clinical centre in Italy, for example, might associate a clinical manifestation with a genetic alteration through sequencing. But to prove it is the cause of the disease, they need to match the same genetic alteration to the same clinical manifestation in other patients. But those patients could be in Mexico or Japan. The Matchmaker Exchange allows data from patients in different parts of the world to be combined and so is accelerating the ability to confirm whether a certain disease is associated with a certain genetic defect.'

What challenges are there?

'At the moment, most of the analysis is done in parts of the genome that code for proteins, known as the exome, but that is only a small part of the DNA (about 1.5%). To find the genetic cause of all diseases (that have one) we need to look outside the exome, which is becoming possible now with whole genome sequencing.'

Some of the rarest (diseases) affect just 10 in a million people. They are the rare among the rare.

Dr Lucia Monaco, Chair, International Rare Diseases Research Consortium.

What about diseases that dont have a genetic cause?

'Some (rare diseases that are not genetic in origin) can be caused by errors as DNA is transcribed into RNA before producing proteins, or alterations in the proteins themselves. Diseases can also be caused by the metabolites produced in the cells by the action of enzymes, for example.

'Advances in the omics (the sciences that study all the cell metabolites, proteins or encoding instructions in the body) is making inroads here, particularly thanks to the computing systems able to handle the data involved, but nowhere near as much as we have with genomics (the first omics field to be developed).'

2020 was the target date for your last set of goals, so whats next?

'In 2017, the IRDiRC set a new goal of getting 1,000 new therapies approved for rare diseases by 2027. It has built three scientific committees that are working on therapies, diagnosis and interdisciplinary fields such as data sharing and sharing biological samples. Their job is to identify the strategic questions that need to be addressed, identify tools or make recommendations to health bodies, funders and policymakers.

'One of the other areas of focus I find particularly interesting is the problems faced by indigenous populations. Diagnosing a disease that requires the symptoms to be described in a way that another doctor using another language will be able to recognise. This is relatively simple if we all work in English in the developed world. But it is far harder in the developing world, particularly among populations that have indigenous languages. These are the most neglected of the neglected as their symptoms are not even addressed in their language.'

The research in this article was funded by the EU. If you liked this article, please consider sharing it on social media.

Rare diseases are individually rare but when you count them together around 30 million people in the EU suffer from one. There are several challenges in diagnosing and treating these conditions, including the fact that medical experts in a particular disease may not be local to the patient, the challenge of finding enough people to run trials for drugs, and the fact that pharmaceutical companies have little incentive to spend time and money developing products that will only help a small amount of people.

To support research and innovation into rare diseases, the EU has provided 1.4 billion to more than 200 projects over the last 13 years. Initiatives include E-Rare, now in its third iteration, a network of 23funding agencies from17 countries to fund transnational research.

In 2019, the EU launched the European Joint Programme in Rare Diseases an alliance between 130 institutions from 35 countries to improve the quality and take-up of rare disease research and develop an efficient way of funding the research. They also established a group of virtual networks for rare disease patients to allow them to benefit from medical expertise from all over the EU. The consortium works with several so-called European Reference Networks, virtual groups of healthcare professionals providing highly specialised care in areas such as epilepsies, rare neurodegenerative diseases and paediatric cancer.

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Q&A: 'We can diagnose more than 4000 rare diseases but there's still a long way to go' - Horizon magazine

Genetics

Rtdeen Farms 22nd Annual Genetics with a Vision Production Sale – Tri-State Livestock News

TSLN Rep: Dennis Ginkens

Date of Sale: Feb. 8, 2020

Location: at the Farm, Clearbrook, MN

Auctioneer: Tracy Harl

Averages:

75 Bulls $3,870

30 Bred Females $2,523

12 Open heifers $1,263

Lot 61 at $10,000-Black, PB SM Bull, RFS Grizzly G65, s. by Ellingson Load Up, sold to Steve Fallgatter, ND

Lot 14 at $8,000Black, blood SM Bull, RFS Gage G15, s. by WS Proclamation, sold to Kellers Broken Heart Ranch, ND

Lot 13 at $6,000Black, PB SM Bull, RFS Gentry G8, s. by WS Proclamation, sold to Emmons Ranch, MT

High selling Bred Female & Heifer

Lot 82 at $4,000 Black, PB Bred, RFS Miss Francie F57s. by Ellingson Load up, bred to Direct Impact, sold to Mark Nesemeier, ND.

Lot 120 at $1,700 Red, PB Open, RFS Miss Georgia, G160 s. by KBHR Kingsman, sold to Brant Farms, MN

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Rtdeen Farms 22nd Annual Genetics with a Vision Production Sale - Tri-State Livestock News

Genetics

PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations – Newswise

Newswise Recent advances in computing enable researchers to explore the life sciences in ways that would have been impossible a few decades ago. One new tool is the ability to sequence genomes, revealing peoples full DNA blueprints. The collection of more and more genetic data allows researchers to compare the DNA of many people and observe variations, including those shared by people with a common ancestry.

Sohini Ramachandran, Ph.D., is director of the Center for Computational Molecular Biology and associate professor of biology and computer science at Brown University in Providence, Rhode Island. She is also a recent recipient of the Presidential Early Career Award for Scientists and Engineers (PECASE). Dr. Ramachandran researches the causes and consequences of human genetic variations using computer models. Starting with genomic data from living people, her lab applies statistical methods, mathematical modeling, and computer simulations to discover how human populations moved and changed genetically over time.

Sohini Ramachandran, Brown University. Credit: Danish Saroee/Swedish Collegium for Advanced Study.

Dr. Ramachandran and her team focus on further uncovering how the genetic architecture, or composition of traits, varies among people with different ancestries. Variations in the genetic composition of disease-causing genes can make individuals respond differently to the same therapy, and understanding these variations could help doctors recommend the best treatment for each patient.

Many of the large genome-wide association studies that have looked for the basis of traits or diseases have been in populations of European ancestry, with the assumption that their genetic architecture is the same across populations. However, this isnt necessarily the case. Most diseases are caused by the interaction of many genetic variants. As a result, people who have different ancestries and the same disease may share some disease-causing variants but have population-specific variants that also play a role in the disease.

Dr. Ramachandran is excited to bring her knowledge of human evolutionary histories into studying genetic variation to better understand and potentially treat diseases and to identify adaptive mutations. She says evolutionary histories can help researchers make sense of data from the genome-wide association studies used to investigate diseases, understand why results from these studies are often difficult to replicate, and determine if results apply only to certain populations. The genome-wide association studies have a lot of downstream effects because some of the results from these studies are affecting decisions that are being made in clinics, and its not clear if those results are relevant to everyone, she says.

For Dr. Ramachandran, receiving a PECASE highlights the importance of statistical and computational work in human genetics and disease and reinforces the value of including evolutionary biology in modern medical practices.

Dr. Ramachandrans research is supported in by part NIGMS grants R01GM118652 and P20GM109035.

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PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations - Newswise

Genetics

CIBC Innovation Banking Provides InformedDNA With US$10 Million Growth Financing – Yahoo Finance

CIBC Innovation Banking is pleased to announce a US$10 million growth capital financing for InformedDNA.

Founded in 2005, InformedDNA was built with the vision to provide genetic testing services to patients and health insurers. The company optimizes genetic-related healthcare spending and patient care by improving access to clinical and scientific genomics expertise. It is the nations largest independent provider of genetic specialists enabled by a comprehensive evidence-based knowledge library for genetic tests and hereditary conditions.

InformedDNA recently announced a strategic growth investment with private equity funds TT Capital Partners, NovaQuest Capital Management, and Frist Cressey Ventures. The company will use the capital to continue scaling its technology and expand its staff of genetic counselors.

"InformedDNA has a deep understanding of the genetic testing space and uses this knowledge to help both patients and insurance companies improve outcomes," said Jeff Chapman, a Managing Director in CIBC Innovation Bankings Menlo Park office.

"CIBC Innovation Banking understands the capital needs of our business and is willing to provide a flexible debt solution so we can continue to execute on our business strategy," added David Nixon, CEO of InformedDNA.

About CIBC Innovation Banking

CIBC Innovation Banking delivers strategic advice, cash management and funding to North American innovation companies at each stage of their business cycle, from start up to IPO and beyond. With offices in Atlanta, Austin, Chicago, Denver, Menlo Park, Montreal, Reston, Toronto and Vancouver, the team has extensive experience and a strong, collaborative approach that extends across CIBCs commercial banking and capital markets businesses in the U.S. and Canada.

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20200227005493/en/

Contacts

Kathryn Lawler, 416-242-1943kathryn.lawler@cibc.com

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CIBC Innovation Banking Provides InformedDNA With US$10 Million Growth Financing - Yahoo Finance

Genetics

HudsonAlpha pumping energy into genetics and genomics education – whnt.com

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Middle school teachers from across North Alabama are getting a hands-on experience to help their students understand who they are.

The HudsonAlpha Middle School GPS Workshop is focused on giving educators new ways to teach genetics and genomics inside their classrooms.

"We work with our friends at AMSTI, the Alabama State Department of Education," said HudsonAlpha Educator Learning Specialist Jennifer Hutchison. "They have specialists throughout the state and they help us identify where there might be needs for classroom resources that can help teachers to hit that content."

So the HudsonAlpha Institute for Biotechnology designed a new set of educational tools that will explain those concepts.

"We have identified some areas in the 7th-grade course of study where there are needs for hands-on resources for our teachers to be able to teach students," said Hutchison. "As a result of that, we actually developed two brand new kits that we are going to train the teachers on."

The kits are pet-themed storylines.

The first kit is called "Gaudy Goldfish." The other is called "Cat Conundrum." The students will use these kits to learn about artificial selection and gene therapy.

Students will use this kit to learn about artificial selection with fish. Researchers, or students, can use artificial selection to develop desirable traits in plants and animals.

Hutchison said students will pair two goldfish together to produce the most appealing offspring traits. Think of it as natural selection - except this involves human interference.

"There's a colony of cats at Auburn University that have been studied for quite a long time," said Hutchison. "They call them shaky cats because they have symptomology in which they have issues with their gait and the way that they move."

Symptomology is the study of the symptoms of diseases.

"As a result of the knowledge of those cats they have developed a gene therapy that allows them to insert a functioning gene into the cats so they produce an appropriate amount of enzymes that will break down the substrates that build up and causes the symptomology," said Hutchison.

The cats walked better when they received that therapy. When the 7th-graders open up Kit #2, they'll use locks and keys to understand the workings of gene therapy.

"Locks and keys are frequently used to model enzyme substrates. The keys are modeling the enzymes and the locks are modeling the substrates," said Hutchison. "We actually map out a nerve cell on the floor and we actually have substrates moving into the cell and going to an enzyme."

Hutchison said the students would be forming an enzyme-substrate complex to see if the key (the enzyme) is going to unlock the lock (the substrate.) If the key unlocks the lock - the lock moves out of the "cell" so it's not "building-up." In short - this is what you call gene therapy.

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HudsonAlpha pumping energy into genetics and genomics education - whnt.com