Category Archives: Genetic Medicine

LANSING, Mich. Pine Rest Christian Mental Health Services is participating in a National Institute of Mental Health (NIMH) study related to major depressive disorder (MDD). The study convenes investigators from around the world to carry out a genetic study of MDD treated with electroconvulsive therapy (ECT).

NIMH awarded more than $5 million to fund the Genetics of ECT study or GenECT over a five-year period. The National Network of Depression Centers (NNDC), along with seven allied ECT centers in the U.S., has joined forces with the Psychiatric Genomics Consortium to conduct this study on a global scale. Pine Rest and Michigan State University are participating through their joint associate membership in the NNDC.

The sheer scale of the study, the cooperation of the NNDC sites, the additional international collaboration, and the focus on severe depression in the setting of ECT sets this study apart and makes it very exciting for Pine Rest to be involved, says Louis Nykamp, M.D., Medical Director, Pine Rest Neuromodulation Clinic ECT/TMS.

This study aims to collect genetic samples from 15,000 patients receiving ECT for severe depression across ECT centers in the U.S., plus an additional 10,000 patients from ECT centers around the world. The driving goal of the study is to identify genetic variation that 1) contributes to risk for severe MDD and indicates which patients may be good candidates for ECT, and 2) influences response to ECT and predict which patients may benefit from treatment.

This is a landmark study, said Peter Zandi, Ph.D., co-principal investigator, Johns Hopkins Bloomberg School of Public Health, representing not only the largest study of ECT ever conducted, but one with potential to greatly improve how we understand cases of depression that are difficult to treat traditionally.

The hope is that comparing genetic profiles of patients who receive ECT with how well the treatment works for each patient will shed some much-needed light on how ECT works, who it works for, and how to identify the best candidates for ECT treatment.

The co-principal investigators are Dr. Zandi and Patrick Sullivan, M.D., University of North Carolina at Chapel Hill; who, together with Richard Weiner, M.D., Duke University School of Medicine; Daniel Maixner, M.D., University of Michigan; and Irving Reti, M.D., Johns Hopkins Medicine; will lead the team of investigators.

The study has begun enrolling patients who will give a blood sample for genetic testing. Patients will answer some depression questionnaires with nursing staff before, during and after treatments, which is already done as part of current patient care.

Many studies are limited by small sample sizes, but with genetic studies large sample sizes allow for better detection of trends or correlations, says Eric Achtyes, M.D., M.S., Pine Rests principal investigator for the study. Research like this, with many partners in a global network, allows the aggregation of data in a way individual institutions could not accomplish on their own.

Pine Rest is an associate National Network of Depression Centers member partnered with Michigan State University College of Human Medicine. The NNDC was established to mobilize collaborative expertise to counteract the public health crisis of depression, bipolar illnesses, and other mood disorders. The NNDC is a nonprofit network of academic medical centers dedicated to improving the lives of those affected by depression and related mood disorders by changing the national conversation surrounding these illnesses through large-scale collaborative studies, education, and outreach. The NNDC has 21 members and four associate members.

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Pine Rest participating in study on treatment for depression - WSYM-TV

Do you hate broccoli? Or, perhaps cant stand the taste of Brussels sprouts?

Those preferences may not mean youre just a picky eater. Not liking some vegetables could actually be in your genes,a new study shows.

Basically, some people are what researchers call supertasters, which means they have a specific genetic makeup that makes some foods taste more bitter, which could make it harder for some to add heart-healthy vegetables to their diet.

RELATED:Trying to improve heart health? Study says avoid evening eating

Your genetics affect the way you taste, and taste is an important factor in food choice. You have to consider how things taste if you really want your patient to follow nutrition guidelines,researcher Jennifer L. Smith said.

The skinny on the science is this: Everyone has two copies of the taste gene TAS2R38. The gene has two variants, PAV and AVI. Those who inherit two copies of PAV are known as supertasters and are likely to find many foods exceptionally bitter, according to the researchers.

RELATED: To decrease your environmental footprint, try eating healthier, study says

The study, conducted at the University of Kentucky School of Medicine, looked at questionnaires from 175 people who were, on average, 52 years old.

They found supertasters were the least likely to incorporate vegetables into their diet.

Were talking a ruin-your-day level of bitter when they tasted the test compound. These people are likely to find broccoli, Brussels sprouts and cabbage unpleasantly bitter; and they may also react negatively to dark chocolate, coffee and sometimes beer, Smith said.

RELATED: These three factors increase heart attack risk in women more than men, study says

While about 25% of people are supertasters, another quarter of the population are known as nontasters. These are the people who have two of the AVI variant and tend to have no sensitivity to bitter foods, researchers say.

Researchers say they intend to continue to look for new ways for people with this genetic makeup to incorporate heart-healthy vegetables in their diet, in a much more enjoyable way.

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Hating vegetables could be in your genes, study shows - Atlanta Journal Constitution

25 November 2019

We are currently experiencing powerful digital, artificial intelligence, genomic science, epigenetics and human reproductive revolutions. These will increasingly blur the lines between the physical, digital and biological spheres.

However, as these technological advances create immense responsibilities, new national and international laws, policies and safeguards will become increasingly necessary.

As more people embrace the transformational impact of these technological revolutions and calculate the economic benefits, I predict that we will see new trends resulting in fewer natural conceptions, more genetically planned parenthood and increased demand for fertility treatment. This is good news for the fertility sector.

DNA (genetic) sequencingnow costs a few hundred pounds per genome, making its integration into the mainstream possible. Interpretation costs are additional, but seem likely to fall. It makes increasing economic sense to invest in genomic sequencing and possible remedies at the outset of fertility patient treatment.

Whole genome sequencing can currently help identify upwards of 40006000 diseases and this number is likely to grow. It is far cheaper than the cost of treating a sick child or adult and lost productivity in the workplace. It is likely to decrease the costs of institutionalised care and result in healthier people living better quality lives. This in turn is likely to increase GDP and lead to greater innovation and development of society as a whole.

Genome editing technologies are becoming more accurate, affordable and accessible to researchers, and could in future help switch genes on and off, target and study DNA sequences.

As genomic science and medicine becomes part of mainstream healthcare provision, I predict we will see a shift in perception towards genetically-planned parenthood to have a healthy child. This technology will help alleviate a biological lottery at birth, avoid condemning children and adults to preventable disease, pain and suffering and has the potential to improve opportunities in life. It could also help address fundamental societal issues of declining fertility levels, later-life conceptions and ageing populations.

At ground level, I expect to see changes to delivery of fertility treatment and patient care. The typical fertility patient treatment model is likely to evolve, incorporating three additional genomic steps at the outset: genomic sequencing, genetic counselling and genetic medicine (including genetic screening and genome editing).

Genomic technology, therefore, has great potential in preventing serious and deadly hereditary diseases and over time we will inevitably see greater pressure to push the boundaries of human genetic enhancements.

In the UK, the implantation of a genetically-altered embryo into a woman is currently prohibited under the Human Fertilisation and Embryology Act 1990, (as amended), excepting under certain conditions to prevent the transmission of serious mitochondrialdisease.

Taking account of these rapidly evolving sectors will require centralised state law and integrated policies. We would benefit from a dedicated Ministry for Fertility and Genomics, with a Minister providing a unified voice, agenda and future direction for the fertility sector as a whole. This would help develop a robust genomic and fertility policy and political strategy encompassing pre-conception through to birth and future genetic legacy.

Added to this, we should ensure the integration of specialist legal services to help protect fertility patients (and future born children) undertaking complex treatment and provide a truly multi-disciplinary medico-legal process.

We will also need informed and effective oversight of genomic science and medicine to protect standards and prevent abuse of this technology. Close oversight, accountability and transparency will be required, and regulation must strike a careful balance between respect for the individual and the interests of the state.

Law and policymakers must adopt caution in deploying these powerful technologies, and it will be important to see how countries across the globe meet the challenge. It will be vital to seek international consensus and build new international legal infrastructures to mitigate the risks and prevent rampant genomic and fertility tourism.

It will require engagement and commitment to help law and policymakers build effective legal and regulatory frameworks that will safely and successfully harness the enormous transformational power of genomic science and medicine in the fertility sector over the next 1020 years and beyond.

Success is there for the taking, but the stakes are very high and we overlook root and branch law and policy reform at our peril.

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Why we need root and branch fertility law reform - BioNews

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Research reinforces need for frequent hand washing

New research led by Washington University School of Medicine in St. Louis sheds light on how the superbug methicillin-resistant Staphylococcus aureus (MRSA) is introduced into households and how it can spread among family members. Shown are the study's senior author, Stephanie A. Fritz, MD, (left) and co-author Patrick Hogan.

EDITORS NOTE: The embargo date and time were changed by The Lancet. Please note new embargo information above.

Once rare, the superbug methicillin-resistant Staphylococcus aureus (MRSA) infects hundreds of thousands of people in the U.S. each year and kills about 20,000. Antibiotic overuse has made MRSA more common and difficult to treat because of the bacterias contagiousness coupled with its resistance to standard infection-fighting drugs. Infected individuals also face a high risk of recurrence.

New research led by Washington University School of Medicine in St. Louis sheds light on how MRSA is introduced into households and, once there, how it can spread among family members, including the furry ones. Understanding MRSAs transmission dynamics is critical to devising effective preventive tactics.

The study, conducted with researchers at the University of Chicago, is published Nov. 21 in The Lancet Infectious Diseases.

The household environment plays a key role in the transmission of MRSA in the community setting, said the studys senior author, Stephanie A. Fritz, MD, a Washington University associate professor of pediatrics in the Division of Pediatric Infectious Diseases. This suggests that aggressive attempts to rid MRSA from household surfaces may significantly lower the number of MRSA infections were seeing now.

It wasnt just one patient who would get a staph infection but multiple members of a family, said Fritz, who treats patients at St. Louis Childrens Hospital. Within a year, wed see many patients return with recurring infections. We felt it was necessary to focus on the specific role that household environments play in MRSA acquisition and transmission.

Staphylococcus aureus, often referred to as staph, generally live harmlessly on the skin in about one-third of the human population. The bacteria can spread through skin-to-skin contact or by touching contaminated surfaces. The infection itself resembles a pus-filled bug bite. However, staph may cause pneumonia, severe organ damage and death when it enters the bloodstream, bones or organs.

The study focused on the households of 150 otherwise healthy children with a median age of 3 years old. The children had been treated for staph infections at hospitals and pediatric practices from 2012 through 2015. Also enrolled were nearly all of the kids family members, which totaled 692 people, and 154 cats and dogs.

Researchers visited each home five times during a one-year period to obtain swab samples from peoples nostrils, armpits and groins. As for the cats and dogs, the researchers collected samples from inside the nose and along the animals backs, the main petting zone. They found MRSA on nearly half of the people and on one-third of the pets at least once over the year.

Pets offered one of the studys most interesting findings. Its sometimes thought that cats and dogs spread harmful germs, Fritz said. We thought they might be a reservoir for the staph germ and play a role in its spread. But our study showed that cats and dogs were more likely to get staph from humans than the other way around.

Additionally, researchers tested for staph on 21 household surfaces such as refrigerator door handles, sink faucets, bathroom countertops, bed sheets, bath towels, light switches, telephones, television and videogame controllers, and computer keyboards and mice.

A molecular analysis of each staph sample 3,819 in all served as a bacterial fingerprint, allowing the researchers to pinpoint exact transmission dynamics of specific strains.

Previous studies have not distinguished between staph strains, Fritz said. By parsing it out, we were able to determine different risk factors for how the staph germ gets into the house and then, once there, how it is spread. The prevailing wisdom is that staph is transmitted from person to person, and that is often true. But our study shows that the household environment also serves as a key reservoir for ongoing staph transmission. In fact, there were a number of instances in which the environment was the only potential source for transmission.

Household acquisition of MRSA is driven equally by the introduction of new staph strains into a home and transmission of established strains among family members within a household, Fritz added.

The studys participants also answered more than 100 questions about hygiene and other personal habits.

Using genetic and epidemiological data can help us find treatment plans and preventive measures, said Patrick Hogan, a clinical research specialist at the School of Medicine and study co-author responsible for analyzing much of the data. For example, we can tell people what they should stop or start doing to reduce the risk of staph infections.

Among the studys findings on the top factors associated with staph getting into the household:

The top factors associated with staph being spread from one person to another:

Hygiene habits that reduce the risk of picking up the staph germ in the household include showering instead of taking a bath, brushing teeth at least twice a day, and using an antibacterial liquid hand soap.

Its not a good idea to share personal hygiene items, Hogan said. However, the biggest take home, as clich as it may sound, is to wash your hands frequently. It offers the best protection from acquiring MRSA.

Mork RL, Hogan PG, Muenks CE, Boyle MG, Thompson RM, Sullivan ML, Morelli JJ, Seigel J, Orscheln RC, Bubeck Wardenburg J, Gehlert SJ, Burnham CAD, Rzhetsky A, Fritz SA. Longitudinal, Strain Specific Staphylococcus aureus Introduction and Transmission Events in a Prospective Cohort Study of Households with Community-Associated Methicillin-Resistant S. aureus Skin and Soft Tissue Infection. The Lancet Infectious Diseases. Nov. 21, 2019.

This research was funded by the Childrens Discovery Institute of Washington University and St. Louis Childrens Hospital; the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (NIH), grant K23-AI091690; National Center for Advancing Translational Sciences of the NIH, grant ULI-TR002345; the Agency for Healthcare Research and Quality, grants R01-HS021736, R01-HS024269; and the Burroughs Wellcome Foundation Investigators in the Pathogenesis of Infectious Disease Award. The computational analysis was partially funded by Defense Advanced Research Projects Agencys Big Mechanism program under ARO contract W911NF1410333; NIH grants R01HL122712, 1P50MH94267, U01HL108634; and a gift from Liz and Kent Dauten.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Drug-resistant staph can spread easily in household environments - Washington University School of Medicine in St. Louis

FLORIDA TODAY Published 6:41 a.m. ET Nov. 26, 2019

Dr. Stephen H. Yandel hematologist and oncologist for Parrish Medical Center in Titusville.(Photo: Provided)

Q: Why did you go into this career?

A: The idea of constantly surrounding myself with science and innovative technology is what ignited my passion for studying medicine.

Q: What Services do you provide?

A: Hematology and Oncology

Q: What makes this area of medicine fulfilling for you?

A: This area of medicine is fulfilling because it gives me the ability to help patients and their caregivers at a time of uncertainty.As a physician, it is important to provide both medical and education support during times of need. In addition to providing the necessary tools to manage the disease and/or illness, it is equally important for a physician to lend an ear and listen to the patients highs and lows of their journey. Not only do I help patients and caregivers medically, but I am also providing them an outlet by which they can freely discuss the challenges their journey may bring.

Q: When did you realize this was the right medical career path for you?

A: My passion for science and innovative technology is what guided me to medical school to become a doctor. Once in school and throughout the training process, the realization of joining a community of like-minded doctors dedicated toward taking care of patients set in and I never looked back.

More: Health Pro: Visit in 'real world' class led to career in optometry

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More: Health Pro: For doctor, being physician 'all Ive ever known'

Q: Whats the latest advancement in your field that will benefit patients?

A: The developmentof genetictools and studies identifying unique areas of cancer cells.This development allows us to use new medications focused on targeting the specific mutation a person has in their cancer.Cancer mutations are unique for every patient; therefore, the medication prescribed to treat the mutation is specific to the individuals diagnosis.This approach has shown tremendousbenefit in cure and prolongation of survival for patients with cancer.

Q: Best advice for current and potential patients?

A: Pay close attention to your health. Take time for annual checkups and listen to your body. More importantly, no matter what you do in life, stay mentally active.

Have a suggestion for FLORIDA TODAY's Know Your Health Pro feature? Contact Tim Walters at twalters@floridatoday.com

Get to Know Know Your Health Pro

Name:Stephen H. Yandel

Where youre based: Titusville

Education: The Johns Hopkins University, Baltimore, MD, Bachelor of Arts Degree: Biology 1982;Southeastern University of the Health Sciences, N. Miami Beach, FL, College of Osteopathic Medicine, Doctor of Osteopathic Medicine 1989.

Address: 845 Century Medical Drive,Suite B, Titusville, FL 32796

Contact: 321-529-6202

On the web: https://www.parrishhealthcare.com/yandel

Read or Share this story: https://www.floridatoday.com/story/life/wellness/2019/11/26/health-pro-oncologist-finds-fulfillment-helping-patients/4272510002/

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Health Pro: Oncologist finds fulfillment in helping patients - Florida Today

Hard-to-study mutations in the human genome, called short tandem repeats and known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel disease and even height and intelligence.

Thats the conclusion of a study published in the Nov. 1 issue ofNature Geneticsby a team of researchers at the University of California San Diego. They were led by Melissa Gymrek, a University of California San Diego professor of computer science and medicine, and Alon Goren, a University of California San Diego professor of medicine.

Short tandem repeats are composed of sequences of between one to six of the DNAs basic components, called nucleotides, repeat over and over again, sometimes up to hundreds or thousands of times.

These mutations have already been implicated in about 30 conditions. The best known is perhaps Huntingtons disease, which causes the progressive breakdown of nerve cells in the brain. About 30,000 people suffer from the condition in the United States. These people all have more than 40 copies of a specific repeat, known as the CAG trinucleotide. The more copies they have, the sooner they are affected by the disease and the more severe it is.

But until now, mostly due to lack of proper datasets, genomewide studies of the effects of short tandem repeats on gene expression had only found limited connections.

In this study, by leveraging whole genome sequencing and expression data for 17 tissues from the Genotype-Tissue Expression Project the team identified short tandem repeats in which the expression of nearby genes is impacted by the number of occurrences of the repetitive units in the genome. Researchers named these eSTRs expression associated short tandem repeats. They found more than 28,000 such expression associated short tandem repeats in the genome. The 28,000 eSTRs can be found athttp://webstr.gymreklab.com. The website allows users to interactively explore eSTR results as well as additional information for each STR, including mutation rates and genetic variation across different populations.

The group used statistical methods to measure the probability that each of these effects is significant. By doing so, they identified hundreds of such eSTRs which are responsible for effects previously found by whole genome analysis studies. The study results implicate specific repeat mutations in traits including height and schizophrenia, inflammatory bowel disease and intelligence.

Overall, our results support the hypothesis that these mutations contribute to a range of human phenotypes and will serve as a valuable resource for future studies of complex traits, Gymrek said.

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Mutations linked to expression of genes associated with complex traits - Valley News