Category Archives: Human Genetics

University of Minnesota researchers are looking at cardiac conditions in racehorses to point toward a solution for both horses and humans.

Researchers are examining the effects of irregular heartbeats in racehorses, which are more frequently affected than average horses. Many racehorses die suddenly on the racetrack for unexpected reasons that may be due to irregular heartbeats, known broadly as arrhythmias. Researchers said they can examine which arrhythmias cause disease and which ones are specific to horses or humans.

The prevalence in horses is not common, but in racehorses with poor performances, its about 2%, said Sian Durward-Akhurst, lead author of the study and a University graduate student. Atrial fibrillation is the most common form of irregular heartbeat in horses.

The researchers examined the genes of 534 horses and found greater variations of disease in them, she said. Researchers are analyzing the disease-causing variants identified in both horses and humans.

Its something thats really interesting because why is it causing disease in humans, but not in horses? Durward-Akhurst said.

They will test these variants in more horses this summer and aim to produce a research paper by next year. Earlier this month, the researchers presented their recent findings at the Santa Anita racetrack in Los Angeles, California.

Atrial fibrillation is the most common abnormal heart rhythm in humans, in cattle, in dogs. Its actually an interesting disease because of its impact on multiple species, including us, said Molly McCue, the principal investigator of the research and the associate dean of research in the Universitys College of Veterinary Medicine.

The irregular heartbeats of atrial fibrillation are sometimes referred to as a quivering heart due to how they affect the heartbeats pace. According to a veterinarian from the Paulick Report, the irregular heartbeat sounds like shoes in a dryer.

Racehorses are bred to have higher functioning cardiovascular systems than other horses, McCue said. Because of this, racehorses are expected to have a higher capacity for exercise.

They have this really frequent occurrence of arrhythmia, she said. The issue now is to figure out why. Then researchers can determine if arrhythmias are contributing to why racehorses are dying on the race track and if they can prevent it.

James Mickelson, a University professor in the Department of Veterinary and Biomedical Sciences, has studied the genetics of diseases in various animals for more than 20 years.

The condition of atrial fibrillation and heart arrhythmias is very likely responsible for sudden death of horses on race tracks, just like similar conditions in people, in human athletes, are responsible for sudden fatal deaths as well, he said.

If researchers can find a new mutation in horse genetics, they can use that to see if the same gene is responsible for any of the human cases, Mickelson said.

Lynn Hovda, chief commission veterinarian for the Minnesota Racing Commission, said horses dont have heart attacks like humans do because of their different cardiovascular systems.

[Horses] have cardiac rhythm disturbances, most often atrial fibrillation, that may result in sudden death. I say may as we dont really know yet, she said.

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Researchers study irregular horse heartbeats, hoping to find a cure - Minnesota Daily

CHAPEL HILL Scientists at the UNC School of Medicine and colleagues created a new computational tool called H-MAGMA to study the genetic underpinnings of nine brain disorders, including the identification of new genes associated with each disorder.

The research,published inNature Neuroscience, revealed that genes associated with psychiatric disorders are typically expressed early in life, highlighting the likelihood of this early period of life as critical in the development of psychiatric illnesses. The researchers also discovered that neurodegenerative disorder-associated genes are expressed later in life. Lastly, the scientists linked these disorder-associated genes to specific brain cell types.

By using H-MAGMA, we were able to link non-coding variants to their target genes, a challenge that had previously limited scientists ability to derive biologically meaningful hypotheses from genome-wide association studies of brain disorders, said study senior authorHyejung Won, PhD, assistant professor of genetics at the UNC School of Medicine and member of the UNC Neuroscience Center. Additionally, we uncovered important biology underlying the genetics of brain disorders, and we think these molecular mechanisms could serve as potential targets for treatment.

Hyejung Won, PhD UNC photo)

Brain disorders such as schizophrenia and Alzheimers disease are among the most burdensome disorders worldwide. But there are few treatment options, largely due to our limited understanding of their genetics and neurobiological mechanisms. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture related to many health conditions, including brain-related disorders. GWAS is a technique that allows researchers to compare genetic sequences of individuals with a particular trait such as a disorder to control subjects. Researchers do this by analyzing the genetic sequences of thousands of people.

To date, we know of hundreds of genomic regions associated with a persons risk of developing a disorder, Won said. However, understanding how those genetic variants impact health remained a challenge because the majority of the variants are located in regions of the genome that do not make proteins. They are called non-coding genetic variants. Thus, their specific roles have not been clearly defined.

Prior research suggested that while non-coding variants might not directly encode proteins, they can interact with and regulate gene expression. That is, these variants help regulate how genes create proteins, even though these variants do not directly lead to or code for the creation of proteins.

Given the importance of non-coding variants, and that they make up a large proportion of GWAS findings, we sought to link them to the genes they interact with, using a map of chromatin interaction in the human brain, Won said. Chromatin is the tightly packed structure of DNA and proteins inside cells, folded in the nucleus in a way to maintain normal human health.

Won and colleagues used this map to identify genes and biological principles underlying nine different brain disorders, including psychiatric conditions such as schizophrenia, autism, depression, and bipolar disorder; and neurodegenerative disorders such as Alzheimers, Parkinsons, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Using the computational tool H-MAGMA, Won and colleagues could link non-coding variants to their interacting genes the genes already implicated in previous GWAS findings.

Another important question in brain disorders is to identify cellular etiology the cells involved in the root cause of disease. This is especially critical as the brain is a complex organ with many different cell types that may act differently in response to treatment. In the attempt of finding critical cell types for each brain disorder, the researchers found that genes associated with psychiatric disorders are highly expressed in glutamatergic neurons, whereas genes associated with neurodegenerative disorders are highly expressed in glia, further demonstrating how the two disorder clusters diverge from each other.

Moreover, we classified biological processes central to the disorders, Won said. From this analysis, we found that the generation of new brain cells, transcriptional regulation, and immune response as being essential to many brain disorders.

Won and colleagues also generated a list of shared genes across psychiatric disorders to describe common biological principles that link psychiatric disorders.

Amongst the shared genes, we once again identified the brains early developmental process as being critical and upper layer neurons as being the fundamental cell-types involved, Won said We unveiled the molecular mechanism that underscores how one gene can affect two or more psychiatric diseases.

H-MAGMA is publicly available so that the tool can be widely applicable and available to the genetics and neuroscience community to help expand research, with the ultimate goal of helping people who suffer with brain-related conditions.

The National Institute of Mental Health, the Brain and Behavior Research Foundation, and the Simons Foundation Autism Research Initiative funded this research.

Other authors were Nancy Sey, Benxia Hu, Won Mah, Harper Fauni, Jessica McAfee, all from UNC-Chapel Hill, and Prashanth Rajarajan, Kristen Brennand, and Schahram Akbarian from Mount Sinai Health System.

(C) UNC-Chapel Hill

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New UNC computational tool boosts understanding of genetic disorders affecting the brain - WRAL Tech Wire

The following are the top rated Healthcare stocks according to Validea's Small-Cap Growth Investor model based on the published strategy of Motley Fool. This strategy looks for small cap growth stocks with solid fundamentals and strong price performance.

ZYNEX INC. (ZYXI) is a small-cap growth stock in the Medical Equipment & Supplies industry. The rating according to our strategy based on Motley Fool is 76% based on the firms underlying fundamentals and the stocks valuation. A score of 80% or above typically indicates that the strategy has some interest in the stock and a score above 90% typically indicates strong interest.

Company Description: Zynex, Inc. operates through the Electrotherapy and Pain Management Products segment. The Company conducts its business through its subsidiaries and the operating subsidiary is Zynex Medical, Inc. (ZMI). Its other subsidiaries include Zynex Monitoring Solutions, Inc. (ZMS) and Zynex Europe, ApS (ZEU). ZMI designs, manufactures and markets medical devices that treat chronic and acute pain, as well as activate and exercise muscles for rehabilitative purposes with electrical stimulation. ZMS is in the process of developing its blood volume monitoring product for non-invasive cardiac monitoring. ZEU intends to focus on sales and marketing its products within the international marketplace, upon receipt of necessary regulatory approvals. It markets and sells Zynex-manufactured products and distributes private labeled products. Its products include NexWave, NeuroMove, InWave, Electrodes and Batteries. ZMI devices are intended for pain management to reduce reliance on drugs and medications.

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CHINA BIOLOGIC PRODUCTS HOLDINGS INC (CBPO) is a mid-cap growth stock in the Biotechnology & Drugs industry. The rating according to our strategy based on Motley Fool is 72% based on the firms underlying fundamentals and the stocks valuation. A score of 80% or above typically indicates that the strategy has some interest in the stock and a score above 90% typically indicates strong interest.

Company Description: China Biologic Products Holdings, Inc. is a biopharmaceutical company. The Company is principally engaged in the research, development, manufacturing and sales of human plasma-based biopharmaceutical products in China. It operates through the manufacture and sales of human plasma products segment. China Biologic has a product portfolio with over 20 various dosage forms of plasma products and other biopharmaceutical products across nine categories.The Company's products include human albumin, human immunoglobulin, immunoglobulin for intravenous injection (IVIG), human hepatitis B immunoglobulin, human rabies immunoglobulin, human tetanus immunoglobulin, placenta polypeptide, Factor VIII and human prothrombin complex concentrate (PCC).

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MEDPACE HOLDINGS INC (MEDP) is a mid-cap growth stock in the Biotechnology & Drugs industry. The rating according to our strategy based on Motley Fool is 72% based on the firms underlying fundamentals and the stocks valuation. A score of 80% or above typically indicates that the strategy has some interest in the stock and a score above 90% typically indicates strong interest.

Company Description: Medpace Holdings, Inc. is a clinical contract research organization. The Company provides clinical research-based drug and medical device development services. The Company partners with pharmaceutical, biotechnology, and medical device companies in the development and execution of clinical trials. The Company's drug development services focus on full service Phase I-IV clinical development services and include development plan design, coordinated central laboratory, project management, regulatory affairs, clinical monitoring, data management and analysis, pharmacovigilance new drug application submissions, and post-marketing clinical support. The Company also provides bio-analytical laboratory services, clinical human pharmacology, imaging services, and electrocardiography reading support for clinical trials. The Company's operations are principally based in North America, Europe, and Asia.

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FULGENT GENETICS INC (FLGT) is a small-cap growth stock in the Medical Equipment & Supplies industry. The rating according to our strategy based on Motley Fool is 69% based on the firms underlying fundamentals and the stocks valuation. A score of 80% or above typically indicates that the strategy has some interest in the stock and a score above 90% typically indicates strong interest.

Company Description: Fulgent Genetics, Inc. is a technology company. The Company offers genetic testing to provide physicians with clinically actionable diagnostic information to improve quality of patient care. The Company has developed a technology platform that integrates data comparison and suppression algorithms, adaptive learning software, advanced genetic diagnostics tools and integrated laboratory processes. As of December 31, 2015, the Company's test menu includes approximately 18,000 single-gene tests and over 200 pre-established, multi-gene, disease-specific panels that collectively test for approximately 7,500 genetic conditions, including various cancers, cardiovascular diseases and neurological disorders. The Company's gene probes are specifically engineered to generate genetic data that is optimized for its software, which enables to rapidly incorporate new genes into its test menu, develop new panels of disease-specific tests and customize tests for its customers.

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MASIMO CORPORATION (MASI) is a large-cap growth stock in the Medical Equipment & Supplies industry. The rating according to our strategy based on Motley Fool is 68% based on the firms underlying fundamentals and the stocks valuation. A score of 80% or above typically indicates that the strategy has some interest in the stock and a score above 90% typically indicates strong interest.

Company Description: Masimo Corporation is a medical technology company that develops, manufactures and markets a range of non-invasive patient monitoring technologies. The Company's business is Measure-through Motion and Low Perfusion pulse oximetry monitoring, known as Masimo Signal Extraction Technology (SET) pulse oximetry. Its product offerings include non-invasive monitoring of blood constituents with an optical signature, optical organ oximetry monitoring, electrical, brain function monitoring, acoustic respiration monitoring and exhaled gas monitoring. In addition, the Company has developed the Root patient monitoring and connectivity platform, the Radical-7 bedside and portable patient monitor, and the Radius-7 wearable wireless patient monitor. It offers Patient SafetyNet remote patient surveillance monitoring system, which allows patients to be monitored through a personal computer-based monitor or by care providers through their pagers, voice-over-Internet Protocol (IP) phones or smartphones.

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Validea's Top Five Healthcare Stocks Based On Motley Fool - 3/15/2020 - Nasdaq

Infections have shut down fishing operations across the world, which is why its essential to both understand infection types that cause symptoms as well as what sort of preventative measures can be taken to avoid them entirely.

As a baseline for this topic, the definition of an infection is the invasion of an organisms body tissue by disease-causing agents. An agent can be bacteria, viruses, fungus and parasites. Infections can be transmitted in a variety of ways.

Exactly how an infection can spread as well as its effect on the human body depends on the type of infective agent. Some infectious diseases can be passed from one person to another easily, while others are harder to transmit. The flu, a cold, measles or a sore throat may be transmitted by a kiss or a simple touch or cough from one person to another. Infectious diseases such as AIDS, herpes and hepatitis are only passed by a closer contact called blood-borne transmission as blood to blood or sexual intercourse.

Some examples of how infections are transmissible, communicable of contagious are:

There are many different root causes of these infections, all of which need to be fully understood in order to determine the best approach for prevention and treatment.

Bacteria Infection

Most of the Earths biomass is made of bacteria, which are single-celled micro-organisms. Bacteria can live in almost any kind of environment, which ranges from extreme heat to intense cold. Some can even survive in radioactive waste. Bacteria are also highly adaptable. That can cause problems for people because it often results in resistance to antibiotics.

There are trillions of strains of bacteria, and a few of these may cause diseases in humans. Some bacteria are beneficial to human digestion and airways. However, there are also plenty of good bacteria like the digestive bacteria contained in our stomachs.

Some examples of bacteria diseases are:

Bacterial infections can be treated with antibiotics but some strains become resistant and can survive treatment. Antibiotics resistant bacterial infections and or diseases have been an ever-increasing which has become a major a concern to infectious diseases specialists and the Centers for Disease Control and Prevention.

Viral infections

Viral infections are as numerous and as deadly as bacterial diseases. Viral infections can range from the common cold to coronavirus to Ebola. Unlike bacteria, viruses are made up of only a genetic code that is encapsulated in a shell made up of protein and fat.

Viruses invade a host and attach to the hosts cell. By this process of attachment and release of genetics (commanding seed matter), the virus rapidly replicates and kills the host cells only to go on to infect new cells and repeats the cycle. Since the virus is only genetic material, it may remain dormant and reactivate when conditions demand so.

Some examples of viral infections are:

Antiviral medications can help in some cases, as they can either prevent the virus from reproducing or boost the bodys immune system response. Antibiotics are not effective against viruses, but most treatments are directed to relieve symptoms while the immune system combats the virus without assistance from drugs and treatments.

Fungal infections

A fungus is a many-celled parasite that can reproduce by spreading spores. Many fungal infections will appear on the topical skin as a persistent rash. Inhaled fungal spores can cause thrush and candidiasis.

Examples of fungal infections are:

Since commercial fishermen work in such harsh environments, the demands of the bodys protective immune system are much greater. A healthy active lifestyle can help keep the immune system strong and able to defend the body against different kinds of infections. Fishermen can stop the spread of communicable diseases with some simple common sense procedures that can be followed on their vessels and onshore.

There is no single way to prevent all infectious diseases. However, the following tips can reduce the risk of transmission:

Given how much they are handling gear and fish, the majority of commercial fishermens on-the-job infections are infections of the fingers and hands. Thats why its especially important to understand what it means to understand these types of infections.

Treating and preventing infections of the fingers and hands

Fish and fish products are often contaminated with infectious bacteria, which explains why fishermen are so prone to infections via the involuntary penetration into soft tissue by fish spines and bones. Bacteria can be easily carried into these open wounds by fish slime, fish intestinal parts and contaminated vessel components. Additionally, the handling of ropes, cables and moving metal parts in the unpredictable environment of the sea adds to the likelihood of bloody injuries that are centered on the hands.

Prevention is always better than treatment. All finger and hand infections are very painful and disabling. Some infections can cause permanent disability, possibly ending a fishermans career. Infections in the hands should always be treated aggressively within the following guidelines:

Knives and fish hooks

Injuries caused by a fishermans working tools such as knives and fish hooks should be treated aggressively and immediately. These instruments can directly inject harmful bacteria deep in the soft tissue.

In order to remove a fish hook with the minimum tissue damage, follow this simple procedure:

The ability to give and receive proper medical attention while at sea is extremely limited. Thats why your medical skills and the supplies you have on hand can make all the difference. Preventing injuries is always the most cost-effective action plan, but that underscores why its essential to get proper training, be prepared, but most importantly, always think: Safety first.

For additional information concerning the best medical kit for your vessel visit marinemedical.com or email your request to info@marinemedical.com.You can also reach us by calling 800-272-3008.

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Marine medicine: Understanding and treating infection types - National Fisherman

Reuben Jacob and Fiona Kellas, Maucher Jenkins share their expertise on IP strategies and considerations for gene therapy inventions.

Gene therapy enables the treatment of a disorder or disease through the insertion of a gene into a patients cells instead of using drugs or surgery.This technique involves the introduction of genetic material into cells to compensate for abnormal genes in the patient or to make protein that will be beneficial to the patient.As an example, if a mutated gene causes a protein that is necessary for the correct functioning of cells to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein.Gene therapy is understood to be useful in the treatment of a range of conditions such as cancer, cystic fibrosis, muscular dystrophy and Alzheimers disease.

UK role in gene therapy techR&D

Gene therapy is considered to be very important to the future of medicine and as such, many companies are focussing their research and development into gene therapy technologies.The UK is a growing industry for research into these areas and it is anticipated that by 2035 the UK industry around cell and gene therapy technologies will be worth in the region of 10 billion.Gene therapy research is still at an early stage.Due to this length of time and the associated costs involved in developing an effective gene therapy and taking it through to approval, it will be important for companies working in this area to put into place an effective IP strategy that will provide protection for their inventions and assist them in maintaining their market position.In addition, the competitive nature of the gene therapy industry means that will be important for a company to obtain patent protection for inventions being developed, as well as reviewing the patent landscape to check that the company is free to operate in their chosen area.

What makes something patentable?

In order for an invention to be patentable, it must be new, inventive and capable of industrial application.In addition to the requirement that an invention meets the above requirements of patentability, it is also important that the invention does not contain subject matter that is excluded from patentability.One of the challenges associated with obtaining patent protection for gene therapy inventions is that the European and US patent systems include a number of exceptions to patentability that are relevant to biological material and natural products.In Europe, it is not possible to obtain patent protection for a method of treatment or surgery of the human body.Thus, the removal of cells from a patient would not be considered to be patentable in Europe.In addition, inventions relating to stem cells that are derived from the destruction of human embryos are not patentable in Europe.In the US, recent case law (Molecular Pathology v Myriad Genetics, Inc, 2013) has meant that inventions relating to natural phenomena and natural products must show characteristics that are different to their natural counterpart(s).

However, despite the above challenges, there are a number of aspects of the gene therapy technology that may be eligible for patent protection.Typically, the gene therapy procedure can involve performing the required modification procedure on cells that have been removed from a patient before reintroducing the cells into the subject to produce their modified effect.The process of modifying the cells may be patentable if it fulfils the above requirements of patentability.In addition, it may be possible to obtain protection for the methods that are used to culture, manipulate or modify the cells that are used for gene therapy.

At Maucher Jenkins, we have a team of attorneys who can provide IP advice and assistance in the area of patenting inventions involving gene therapy, molecular biology and biochemistry.

by Fiona Kellas, Reuben Jacob

16 March 2020

14:20

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Thinking out loud: IP strategies for gene therapy inventions - Med-Tech Innovation

Genetic and genomic research has improved our understanding of the genetic origin of growth, development and disease and affects all areas of healthcare. There is also mounting evidence that many complex conditions are the result of interactions between genes. These include diabetes and hypertension.

Genomics has become increasingly important to oral health too. Dentists regularly come across obvious expressions of genetic disorders or genetic-based diseases in the oral and head and neck region. There are approximately 5,500 known inherited conditions. More than 700 of these have abnormalities which involve the oral and dental region of the face.

These insights have been gained through continued and concerted efforts to understand the genetic aspects of diseases. This understanding, in turn, has generated novel approaches to prevent, diagnose and manage them.

In the area of dentistry, teaching has unfortunately not kept up with the science, particularly in Africa. This places dentists at a disadvantage. They cant or find it difficult to contribute to the overall health of patients with genetic disorders because they dont have the necessary knowledge. This would include the ability to recognise the indicators of genetic disorders and the confidence to manage these patients.

This is why dentists need a sound understanding of genetics. And its why genetics and genomics should be included in the undergraduate and postgraduate curriculum. Investing in structured dental genetics programmes in dental schools in Africa would ensure an increase in the dental genetics workforce. This would ultimately improve the management of patients with inherited conditions with oral and dental manifestations.

To evaluate the need for human genetics in the dentistry curriculum my colleagues and I conducted a survey at the dental school at a South African university. Academic staff, 4th and 5th-year undergraduate dental students as well as postgraduate dental students participated in the survey.

The results indicated that students and clinicians had limited training and experience pertaining to the diagnosis and management of individuals with genetic disorders.

Currently, there are no plans in place to train dentists with a sound understanding of genetics. There are also no programmes in place to allow trained African dentists to choose such a career pathway.

As a result, there is an over-dependence of African clinical practice on research findings from technologically advanced Western countries. Secondly, it means that clinical research capacity building isnt happening. And finally, it means that patients arent being offered the best possible diagnosis and treatment.

There are several factors responsible for the lack of dental genetics in Africa. Among a few challenges are poor biomedical research infrastructure, minimal funding and an absence of a structured dentist genetics career pathways.

To address these challenges, African universities and dental schools need to develop and include dental genetics courses in undergraduate and postgraduate programmes. These should be designed to ensure they help members of the dental fraternity to treat patients with hereditary conditions.

The dental genetics workforce would, in turn, increase trained dentists some of whom could have the option of following a research career. This would enhance networking among African dental researchers and lead to better dental research output across the continent.

Several first world universities, such as the universities of Pittsburg, Manchester and Oslo have included dental genetics into their curricula. Their vast research capacity has resulted in evidence-based dentistry being offered to patients in those countries.

Another way to foster an interest and understanding of genetics in the dental community is by developing collaborative relationships. One already exists in South Africa between the division of human genetics at the University of Cape Town and the dental faculty at the University of the Western Cape. This partnership runs a dental genetics clinic which serves patients with genetic disorders from across the Western Cape province. Postgraduate students also rotate through the clinic and are mentored in the dental management of children with genetic disorders and congenital abnormalities.

Adding courses on human genetics in the curriculum at dental schools would be a first step to ensuring that more dentists have an understanding of the field.

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Dentists in South Africa aren't being taught genetics. Why they should - The Conversation Africa

Fruit flies and humans may have more in common than you think.

Flies were used during early research into human genetics, said Dr. Doug Brusich. Brusich, an assistant professor at the University of Wisconsin-Green Bay, is among a group of researchers who now use the insect to study traumatic brain injuries. Their findings could have implications for athletes.

Brusich co-authored a paper published last year in the journal Fly focusing on the effects of repetitive, mild brain injuries the same type that might be suffered by offensive or defensive linemen. The researchers found mild brain injuries in quick succession have a compounding affect, which they referred to as synergistic, and can cause the same level of impairment as a single more severe injury.

Brusich has been working with flies for 10 years. Flies have all the same types of genes humans do, he said. Whereas humans often have multiple versions of each gene, however, flies can have just one.

"So if you were to make a mutation in the one version of the fly gene, you might get a nice model for disease that's a simpler way to study it than it would be in the human system," Brusich said.

With the help of several undergraduate researchers, Brusich anesthetizes flies in his lab and sorts them into individual vials. They then use a spring mechanism to launch the vials, at varying angles, against a padded surface. The method was developed by University of Wisconsin-Madison geneticists Dr. David Wassarman and Dr. Barry Ganetzky, Brusich said. It causes the flies to experience the same acceleration, deceleration or rotational forces a human might go through in a car crash.

Research on flies can yield quick results, Brusich said. Its also easy to isolate a control group when studying brain injuries in flies. The same cant be said for humans.

In her field, concussion treatment is becoming more personalized, said Sadie Buboltz-Dubs, clinical coordinator for UW-Green Bays new Master of Athletic Training program. Different factors like genetics and lifestyle can play a role in a persons outcome after a concussion.

"We want to help ourpatients as much as we can, and we can help them better if we have a better understanding of what's happening," she said.

Researchers can also study conditions in flies that are challenging to study in humans. Flies have been used to research chronic traumatic encephalopathy (CTE). The diagnosis of CTE, which was linked to professional football players in 2002, can only be confirmed in patients when theyre dead, Brusich said.

According to the CTE Center at Boston University, a persons risk of developing the neurodegenerative disease doubles for every 2.6 years they play football.

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How Fruit Flies May Be Able To Teach Us About Football Injuries - Wisconsin Public Radio News

HARLINGEN The University of Texas Rio Grande Valley announced Tuesday it has received a $38 million gift for the School of Medicine.

The university received the gift from the Valley Baptist Legacy Foundation, and its the largest single donation in the history of higher education in South Texas.

Guy Bailey, UTRGV president, thanked the Legacy Foundation for its generous donation at a presentation Tuesday. Community leaders, Valley Baptist representatives and university administrators gathered for the presentation at the UTRGV Clinical Education Building.

Ive never been at a university where Ive had a better partner than the Legacy Foundation, Bailey said. I want to thank you so much for this partnership.

The VBLF gifted UTRGV $15 million three years ago to help establish the UTRGV Institute of Neurosciences, which is currently under construction in Harlingen.

This is transformative in ways that are hard to express, Bailey said. It will change everything about what we do, the impact we have on the Valley. The benefits of this gift you will see for a long time.

The gift is historic and crucial in many respects, said Dr. John H. Krouse, dean of the UTRGV School of Medicine, which has a three-fold mission.

One part of that mission is training the next generation of physicians and biomedical scientists in the Rio Grande Valley.

Another part is conducting research that investigates diseases and medical issues of concern to the local population.

And third, its providing much-needed medical care to Valley residents who often have had poor access to needed primary and specialty care.

This generous funding offered to the School of Medicine allows us to deliver on all three of our core missions and change forever the landscape of medical education and health care in the Valley, Krouse said.

The gift will establish THRIVE Transform Health Research in the Valley and Elsewhere to make UTRGV a national epicenter for biomedical research.

We will be able to increase the range of research activities centered in Brownsville and conducted through our South Texas Diabetes and Obesity Institute, Krouse said. We will expand into related areas such as childhood genetics, genomic bio-imaging, and regenerative medicine.

He said it will enhance an already existing collaboration with the Institute of Neurosciences in Harlingen.

Secondly, Krouse said, through both these THRIVE funds and the establishment of a residency program in general surgery at Valley Baptist Medical Center, the School of Medicine will be able to train four new general surgeons each year in Cameron County. The School will also use the funds to expand programs in the education of biomedical scientists for its new PhD program in human genetics in Brownsville.

Finally, the funding of our general surgery residency program at Valley Baptist will allow the School of Medicine to expand much-needed surgical care in Cameron County, Krouse said. It will facilitate the hiring of additional surgeons to provide surgical services. It will expand the number of general surgeons and surgical specialists over time.

He pointed out that in many recent conversations with the public, with advocacy groups, and with elected officials, the School has learned of the strong need for accessibility to specialty and surgical services in the Valley.

Our patients who may have access to primary care may find that when they need something more than primary care its difficult to find it, Krouse said. Through this important gift, the UTRGV School of Medicine will be able to provide that critical service in filling the gap in surgical care throughout the Valley.

Dr. Nolan Perez, a member of the University of Texas System Board of Regents, said the gift will help end the brain drain which has affected the Valley for so long. In the past, aspiring local medical students had to accomplish their training outside the Valley. Physicians often practice where they receive their training. This has left a significant gap in the local medical community.

But no more.

As a physician here, Im really excited that we can finally put a dent in the access to public health care in this region, said Perez, a gastrointestinal doctor.

Also if you think about it, it allows our young kids the opportunity to get educated here and to stay here, he said.

Perez is also the president of the board of trustees for the Harlingen school district, which has established a medical pipeline from high school to the UTRGV School of Medicine. The grant and its far-reaching applications will enhance opportunities for local high school students entering the medical field.

I think today we are beginning to live the dream that we just had not too many years ago, Perez said. We all knew that UTRGV could indeed create enormous opportunities for our citizens.

The money will help put UTRGV on the map, Bailey said.

Universities around the country are ranked in something called the Top American Research Universities, he said. Youre talking about 200 ranked universities. Once this gift is fully realized, we will be 129th in the nation in annual giving. We will be 172 in total research expenditures.

Not bad for a university thats only five years old.

Continue reading here:
$38 million grant going to UTRGV School of Medicine - Monitor

As to diseases, make a habit of two things to help, or at least, to do no harm.

Hippocrates

The increasing ability of human beings to treat formerly lethal diseases has had a massive effect on the quality of our lives over the past century. However, many damaging genetic diseases such as Tay-Sachs and cystic fibrosis have remained outside of this pattern.

While certain drugs and treatments for these conditions do exist, they only can ameliorate the symptoms, not cure them.

Yet, the fact that the genomics industry is working to remedy this situation by developing gene-editing tools like CRISPR also provides new opportunities for investors. For instance, the ARK Genomic Revolution ETF (BATS: ARKG) provides investors with exposure to companies around the world that are involved in the genomics revolution, regardless of sector.

As of right now, most of its holdings are in U.S health care companies, most of which (71.93%) are in the biotech sector. Its other top sectors include advanced medical equipment and technology (12%), medical equipment, supplies and distribution (6.49%), health care facilities & services (4.21%) and pharmaceuticals (4.13%).

Its top holdings include Invitae Corp. (NYSE: NVTA), Illumina, Inc. (NASDAQ: ILMN), CRISPR Therapeutics AG (NASDAQ: CRSP), Intellia Therapeutics, Inc. (NASDAQ: NTLA), Compugen Ltd. (NASDAQ: CGEN), Editas Medicine, Inc. (NASDAQ: EDIT) and Teladoc Health, Inc. (NYSE: TDOC).

This funds performance has been solid in both the short run and the long run. As of February 10, 2020, ARKG is up 4.70% over the past month and up 19.95% over the past three months. It currently is up 6.59% year to date.

The fund currently has $514.19 million assets under management and an expense ratio of 0.75%, meaning that it is more expensive to hold in comparison to other ETFs.

Chart courtesy of http://www.StockCharts.com

While ARKG does provide an investor with a chance to profit from the world of genetics, the sector may not be appropriate for all portfolios. Interested investors always should conduct their due diligence and decide whether the fund is suitable for their investing goals.

As always, I am happy to answer any of your questions about ETFs, so do not hesitate to send me an email. You just may see your question answered in a future ETF Talk.

Continued here:
Accessing the World of Genetics - Stock Investor

Scientists in London have identified a type of genetic mutation that appears to protect against late-onset Alzheimers disease.

For their paper, published in the Annals of Human Genetics, the researchers studied DNA samples taken from more than 10,000 people. They identified a class of gene mutationsor variantsthat they said appear to protect a pathway critical for cell survival.

Calling his teams results quite encouraging, study author David Curtis from the University College of London Genetics Institute said that the genetic variations his team identified make Alzheimers disease less likely to develop.

Drugs which have the same effect might also be protective, Curtis said in a news release.

The research built on previous studies in mice and rats, which suggested that inhibiting the mutations could protect against Alzheimers disease. The new paper marks the first time, the scientists said, that the same effect has been demonstrated in genetic samples from people.

Of the DNA samples that were analyzed, half came from individuals with Alzheimers. The other 5,000 samples came from people without any dementia.

In total, the researchers examined all DNA sequence mutations in more than 15,000 genes, including more than one million individual variants, to identify genes in which damaging mutations were more common in people with or without Alzheimers disease.

Heres a natural experiment in people that helps us understand how Alzheimers disease develops, Curtis added. We can see that the impact of having particular variants is a reduced likelihood of developing Alzheimers disease.

The gene mutations reduced the functioning of proteins called tyrosine phosphatases, which are known to impair the activity of a cell signaling pathway known as PI3K/Akt/GSK-3. This pathway is important for cell survival.

Researchers believe the PI3K/Akt/GSK-3 signaling pathway could be a key target for therapeutic drugs and the findings also strengthen evidence that other genes could be linked to either elevated or reduced risk of Alzheimers disease.

Finding DNA variants that modify the risk of Alzheimers disease is useful as it may help us develop drugs which target the same proteins, Curtis said. As our understanding improves, there may be opportunities to intervene with treatments to prevent the disease from progressing.

Late last year, researchers drew international coverage when they announced they had identified a rare gene mutation that seemingly prevented a woman from developing Alzheimers for decades.

Scientists said the research, published in the journal Nature Medicine, presented a tantalizing clue for why some people are resistant to developing Alzheimers.

Like many members of her extended family, the woman, from Medelln, Colombia, carried a gene mutation called presenilin 1. This gene is known to cause early onset Alzheimers. In fact, researchers said family members with the genetic mutation have a 99.9 percent risk of developing Alzheimers as early as their 30s.

However, the woman did not develop Alzheimers until her late 70s. Scientists suspect the disease was held at bay by another extremely rare gene mutation the woman had called APOE3 Christchurchor APOE3chnamed after Christchurch, New Zealand, where it was first identified.

At virtually the same time, another set of researchers identified genetic mutations related to autism that may play a role in the neurodegenerative disease as well.

The study, out of Tel Aviv University, pinpointed thousands of genetic mutations in aging human brains that overlapped with mutations involved in autism and intellectual disability. They also found that many of these mutations occurred in the cell skeleton/transport system, a network of proteins that help organize cells.

Read more here:
Researchers Pinpoint Genetic Mutations That May Protect Against Alzheimer's - Being Patient