Daily Archives: April 9, 2021

Human diversity did not appear to matter to modern medicine. At the time, the state of medical practice ignored the differences between individuals and between men and women.

This practice was reflected in how doctors were trained. They took courses in basic biology, biochemistry, anatomy and physiology. But genetics, the science of variation, was not a required course until recently.

Advances in genetics research have slowly transformed the practice of medicine. There has been a slow accumulation of a long list of diseases caused by variations in a single gene. Since the disease-causing variants generally occurred with some exception in low frequency, these diseases did not occupy the mainstream concern of the medical profession.

All this changed with the Human Genome Project (HGP). Completed in 2003, the sequencing of human genome pushed us into a new era of how genetic diseases would be defined, and how future health services would be delivered.

Medical schools need to do a lot better preparing future physicians and health professionals if the dreams of personalized medicine are to be realized.

Personalized medicine means treating patients based on the individual characteristics of their DNA. The information can be used either in direct intervention, as in cancer treatment, or in predictive medicine.

Different specializations would require varying levels of proficiency: for example, family physicians would need a sufficient background in genetics, while oncologists would need in-depth education.

The HGP made two big promises. First, it promised personalized predictive medicine based on an individuals genome sequences. Disease-causing mutations at different locations on a gene would be identified, and an overall personalized risk score would be calculated that would tell the individual his or her chances of developing that disease.

The second promise was to develop a better and faster cures for complex diseases such as cancer.

The letdown came when genomic studies showed that genes affecting complex diseases were potentially large in number and individually of small effect, and worse still, only a small number of all potential genes affecting a given disease could be identified.

Even more problematic, it turned out that all individuals sharing the same risk factor for a given disease did not develop the disease. This creates a problem for predictive medicine if scientists cannot link a disease to a gene with any certainty.

The uncovered genomic complexity of diseases was contrary to expectations of the Mendelian model, which did not account for genetic variations beyond one gene one disease.

This is where the work my collaborators and I carried out in our labs comes in. Our work in population genetics and evolutionary genomics relates to how these characteristics are calculated and combined into an overall score used in predictive medicine.

My lab specializes in the evolution of molecular complexity and its impact on precision medicine. We also study variation and evolution of sex and reproduction related genes and their role in the evolution of sexual dimorphism in complex diseases and mental disorders. We reviewed three decades of relevant work in genetics, genomics and molecular evolution and drew the following conclusions.

First, we showed that because of the blind nature of evolutionary forces and the role of chance in evolution in humans, many combinations of genes can lead to the same disease. This implies the existence of a considerable amount of redundancy in the molecular machinery of the organism.

Second, we showed that genes do not work alone: gene-gene and gene-environment interactions are a major part of any organisms functional biology. This would explain, for example, why some women with breast cancer genes develop breast or ovarian cancer and some do not.

Third, we showed that since males fight for mates and early reproduction, this would lead to an evolution of male-benefitting mutations even at the cost of them being harmful later, making males vulnerable to diseases in their old age. Male-benefitting mutations harmful to females would trigger a female-driven response leading to the evolution of increased female immunity, and possibly evolution of higher thresholds for complex diseases and mental disorders.

This would explain why many diseases such as autism are more common in boys than girls. In addition, some differences in disease prevalence, such as depression in women, is theorized to be the result of interaction between hormone fluctuation and social stress factors.

If you have sought medical attention, its likely that your doctor may have asked you about your parents and your siblings. Your physician is interested in knowing if there are any health conditions, such as cardiovascular disease, diabetes or high blood pressure that run in the family and that might affect your health.

Future physicians will need to know a lot more than their patients family history.

The number of situations that involve relevant genetic contributions will continue to increase with advances in molecular insights and precision medication. The medical research establishment is becoming increasingly aware of the importance of individual genetic differences and of sex and gender when assessing diseases and health-care proposals. Health professionals must have sufficient expertise in diversity, genomics and gene-environment (gene-drug) interaction.

Future physicians will be part of health networks involving medical lab technicians, data analysts, disease specialists and the patients and their family members. The physician would need to be knowledgeable about the basic principles of genetics, genomics and evolution to be able to take part in the chain of communication, information sharing and decision-making process.

This would require a more in-depth knowledge of genomics than generally provided in basic genetics courses.

Much has changed in genetics since the discovery of DNA, but much less has changed how genetics and evolution are taught in medical schools.

In 2013-14 a survey of course curriculums in American and Canadian medical schools showed that while most medical schools taught genetics, most respondents felt the amount of time spent was insufficient preparation for clinical practice as it did not provide them with sufficient knowledge base. The survey showed that only 15 per cent of schools covered evolutionary genetics in their programs.

A simple viable solution may require that all medical applicants entering medical schools have completed rigorous courses in genetics and genomics.

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Medical schools need to prepare doctors for revolutionary advances in genetics - The Conversation CA

With the COVID-19 pandemic drawing more attention to America's obesity problem, a growing body of research indicates that our genetics should be used to determine what we eat.

Decades of research shows that, at least for most people, the secret to staving off disease is getting plenty of exercise and eating diet high in vegetables and with a healthy mix of fats, protein and carbs. But now a budding field called "nutrigenomics" aims to offer people personalized lifestyle advice based on each person's DNA.

Though still a new area of scientific study, researchers hope food plans based on genetic makeups will be more effective than traditional one-size-fits-all recommendations.

"Given the greater concern for high blood pressure, high blood sugar and obesity, and their association with severe COVID-19, I foresee a great emphasis on personalized nutrition, with the use of data from genetic tests and monitoring blood glucose, to help people make positive choices and decrease their risk," said Brigid Titgemeier, a functional medicine dietitian and founder of beingbrigid.com.

It's not the supplements or the food that we eat, it's what the food does to our body to make it heal itself.

Decades after the Human Genome Project mapped the genes of humans, scientists now are using this information to better understand how food can modify predispositions to disease and immune functions.

Nutrigenomics is described as a genetic approach to personalized nutrition, including not just diet but sleep patterns and one's overall lifestyle.

A doctor consults with a patient regarding diet nutrition in an undated stock image.

"It embraces this idea that despite all of us being 99.9% the same, there is that 0.1% that truly determines how you respond to the world around you," said Dr. Yael Joffe, founder and chief science officer of 3X4 Genetics.

"Following a diet that is restrictive or one seen on social media may result in some improvement, but they aren't sustainable and aren't data driven," said Dr. Marvin Singh, an integrative gastroenterologist and founder of Precisione Clinic. "Nutrigenomics provides an understanding of your predispositions and deficiencies. In terms of weight loss, it can provide data on particular gene mutations you have that might favor you acting or eating a certain way -- or even exercise patterns that may be more helpful."

Accessing one's genetic makeup can be done with saliva sampled from a cheek swab and sent to a lab. Using the data a subject gets back, Joffe said, can help inform that individual which foods can be eaten to turn on or off certain genes.

"We are all going to respond a bit differently when we eat a salad," said Kristin Kirkpatrick, a nutritionist and the president of KAK Nutrition consulting, "since there is no diet that is one-size-fits-all. We need to look at our DNA if we want to lose weight."

Diet and exercise is the first recommended treatment for the majority of the chronic diseases in the U.S. -- hypertension, obesity, diabetes and high cholesterol. But personalized nutrition based on genetics, research has shown, is more effective in reaching long-term weight-loss goals.

"Genetics is an extremely powerful behavioral tool to implement long-standing changes," Joffe added. "It's about you. It's your story. Not something you read on social media or the internet."

In his clinic, Singh finds that patients are more likely to stick to treatment plans tailored to their own genetics, so having access to that data helps him provide a framework for better treatments.

"A low-salt diet is recommended if someone has high blood pressure," Singh said, "but everyone's blood pressure may not respond to this. Using genetic information, I can see if a person's blood pressure would respond favorably to this dietary change and if there is something else that is driving their disease."

A doctor checks the weight of a patient in an undated stock image.

By changing variables such as sleep patterns, diet and exercise, it is ultimately difficult to measure the impact of a genetic test, explained Joffe.

Nutrigenomics is new and constantly evolving, and experts told ABC News there's much left to learn.

"More research needs to be done so we can have even more specific dietary guidance," Titgemeier said. "Right now, certain mutations in our genes can tell us to have a diet low in saturated fat, however, what we don't know is the percentage."

Health care consumers also need to be careful their genetic information doesn't end up in the wrong hands -- some companies have been found to collect and sell data to third parties. One of the best ways to avoid being scammed? Talk to your doctor.

"The best way to start is with your primary care [physician] and asking if they know someone who does nutrigenomics or if they can get some information on this," Kirkpatrick said.

Eventually, experts said, using food as medicine may help reduce the risk of other serious diseases such as Alzheimer's dementia or heart disease.

"It's not the supplements or the food that we eat, it's what the food does to our body to make it heal itself," Joffe said. "This area of gene expression is really the extraordinary power of where nutrition lies."

L. Nedda Dastmalchi, D.O., M.A., an internal medicine resident physician at The George Washington University, is a contributor to the ABC News Medical Unit.

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With obesity on the rise, the best diet may be tailored to our genes, experts say - ABC News

HACKENSACK, N.J., April 8, 2021 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), awarded the University of Missouri School of Medicine a bridge grant for $31,500 to continue evaluating CRISPR therapy in a pre-clinical model of Duchenne. The project is led by Dongsheng Duan, PhD, Margaret Proctor Mulligan Professor in Medical Research at the MU School of Medicine.

Duchenne isthe most common fatal genetic disorder diagnosed in childhood, affecting approximately one in 5,000 live male births. Duchenne is caused by a change in the DMD gene that codes for the dystrophin protein. Currently, a number of strategies are in development to explore the possibility of using gene editing to restore production of a functional dystrophin protein.

Gene editing utilizing AAV-mediated CRISPR/Cas9 is an area of therapeutic development that has significant potential for treating individuals with Duchenne. The use of the CRISPR/Cas9 technology in Duchenne is still in early stages, with various strategies being investigated for how best to modify the DMD gene to restore production of the dystrophin protein. While there is excitement in the potential that gene editing holds, the Duchenne community recognizes that there are many questions that still remain unanswered.

One such question is around the topic of safety. Specifically, if the Cas9 enzyme, which is a bacterial protein, will cause an immune response when it is delivered throughout the body to reach the muscle. Dr. Duan will continue his ongoing investigation into this question by exploring immune responses from systemic delivery of AAV-mediated CRISPR/Cas9 in a large pre-clinical model.

"Duchenne research has progressed significantly over the past several years, with strategies such as gene editing holding incredible possibilities for our community," said Eric Camino, PhD, PPMD's Vice President of Research and Clinical Innovation. "The work Dr. Duan is doing will contribute greatly to our understanding of how we can safely translate CRISPR/Cas9 gene editing strategies to patients with Duchenne."

"We greatly appreciate the support from PPMD and the Duchenne community," said Dr. Duan. "CRISPR/Cas9 editing therapy has the potential to permanently repair the mutated DMD gene. Studies from many groups, including us, have demonstrated efficient restoration of dystrophin in patient cells and rodent models. Yet, little is known about the immune response to the bacterial derived Cas9 protein. A better understanding on Cas9 immunity will pave the way to the translation of this promising therapeutic modality."

To learn more about PPMD's robust Research Strategy, funding initiatives and strategies for accelerating drug development,click here.

ABOUT PARENT PROJECT MUSCULAR DYSTROPHY:

Duchenneis a fatal genetic disorder that slowly robs people of their muscle strength.Parent Project Muscular Dystrophy (PPMD)fights every single battle necessary to end Duchenne.

We demand optimal care standards and ensure every family has access to expert healthcare providers, cutting edge treatments, and a community of support. We invest deeply in treatments for this generation of Duchenne patients and in research that will benefit future generations. Our advocacy efforts have secured hundreds of millions of dollars in funding and won five FDA approvals.

Everything we doand everything we have done since our founding in 1994helps those with Duchenne live longer, stronger lives. We will not rest until we end Duchenne for every single person affected by the disease. Join our fight against Duchenne atEndDuchenne.org.Follow PPMD onFacebook,Twitter, Instagram, andYouTube.

SOURCE Parent Project Muscular Dystrophy (PPMD)

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Parent Project Muscular Dystrophy Awards $31,500 Grant to Understand Immune Response to CRISPR/Cas-9 Gene Editing Strategies - PRNewswire

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The development of genome engineering with potential applications proved to reflect a remarkable impact on the future of the healthcare and life science industry. The high efficiency of the CRISPR-Cas9 system has been demonstrated in various studies for genome editing, which resulted in significant investments in the field of genome engineering. The global CRISPR gene editing marketwas valued at $846.2 million in 2019 and is expected to grow at a CAGR of 26.86% during the forecast period 2020-2030.

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Expert analysts at BIS Research have found the manufacturing QC for cell and gene therapy to be one of the most rapidly evolving and dynamic markets. The global market for cell and gene therapy manufacturing QCis predicted to grow at a CAGR of 22.80% over the forecast period 2020-2030. The market is driven by certain factors, which include the increasing prevalence of cancer and chronic diseases, rising number of clinical trials for cell and gene therapy, steady investments and consolidations in the cell and gene therapy market, and favorable regulatory environment.

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BIS Research Publishes Nine Market Intelligence Reports in Precision Medicine in the First Quarter of 2021 - PRNewswire

Women tend to be more greatly affected by chronic pain, which may be due to differences in the group of genes that influence the severity of the condition.

A team of researchers, led by Kiera Johnston of the University of Glasgow, conducted a genetic study investigating chronic pain in men and women. They found that there were 31 genes in women associated with chronic pain and 37 in men, with only one overlapping gene associated with chronic pain in both sexes.

The team conducted a Genome Wide Association Study (GWAS), which screens the genome for genes that are associated with disease. The study consisted of 209,000 women and 178,000 men.

They also compared the genes to see whether they interacted with each other and found that many of the genes would help others perform, suggesting that chronic pain could be influenced by multiple genes and gene interactions.

In addition, the team found that all of the genes in men and all but one of the genes in women were actively switched on in cells around the dorsal root ganglion, a nerve cluster in the spinal cord responsible for transmitting pain signals from around the body back up to the brain.

In their paper, published in PLOS Genetics, the authors say this builds on previous work that shows chronic pain originates largely in the brain, and sometimes in the sites where the pain is experienced.

They also suggest that the differences in chronic pain between sexes is at least somewhat genetically based and needs to be considered when developing treatments.

Overall, they argue that chronic pain research would benefit from taking individual experiences based on sex into account.

Our study highlights the importance of considering sex as a biological variable and showed subtle but interesting sex differences in the genetics of chronic pain, says Johnston.

Dr Deborah Devis is a science journalist at The Royal Institution of Australia.

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Chronic pain in women could be genetic - Cosmos