Category Archives: Genetic Medicine

A pilot study in California is trying to prove that you are, indeed, what you eat. It's providing meals that are medically tailored for 1,000 people with congestive heart failure to keep them healthy and out of the hospital and to save health care dollars.

Congestive heart failure made Diane Henry feel like she was drowning.

"There was a time I thought this was it. I didn't have any plans. It's just I thought it was over for me," she said.

Then, eight months ago, she got into California's pilot study to see if diets tailored to patients with heart failure would keep them out of hospitals. That means very little salt.

"We provide them with meals that are perfectly balanced, and the entire days' worth of meals total 2 grams of salt," Project Angel Food Executive Director Richard Ayoub said.

Project Angel Food has made and delivered medically tailored meals to patients with chronic illnesses for 30 years.

"We are, indeed, seeing dramatic results," Ayoub said. "We're bringing down the numbers of readmissions into the hospital."

In fact, Project Angel Food says only 10% of clients in the pilot are readmitted to hospitals within 30 days, compared to 32% of all Medicaid patients with congestive heart failure.

"If it's made for you and delivered to your home and you're not having to go out to the grocery store or to a fast food place where you might buy something high in salt, this makes it easy to eat a healthier diet," Dr. Richard Seidman said.

Henry believes this is making her better.

"I feel like I'm getting the old Diane," she said. "She's coming back, but back with a vengeance, and a healthier Diane."

The state of California put up $6 million for the study, which will last three years.

Getting rid of salt may be harder than you think. You might be buying products with more salt than you realize. For example, the U.S. Department of Agriculture has found that 60% of raw meat and poultry items are injected with or soaked in salty solutions.

To avoid the meat products with added salt, stay away from the ones with labels such as marinated or enhanced.

RESEARCH SUMMARYANGELS IN THE KITCHEN REPORT #2695

BACKGROUND: Research shows that dietary habits influence disease risk. While certain foods trigger chronic health conditions, others offer strong medicinal and protective qualities. However, diet alone should not replace medicine in most circumstances. Many illnesses can be prevented, treated, or even cured by dietary and lifestyle changes, many others cannot. Eating whole, nutritious foods is important because their unique substances work together to create an effect that can't be replicated by taking a supplement. Although your body only needs small amounts of vitamins and minerals, they're vital for your health. Insufficient intakes of vitamin C, vitamin D, and folate may harm your heart, cause immune dysfunction, and increase your risk of certain cancers. Nutritious foods, including vegetables, fruits, beans, and grains, boast numerous beneficial compounds, such as antioxidants which protect cells from damage that may otherwise lead to disease. Fiber is also an essential part of a healthy diet. It not only promotes proper digestion and elimination but also feeds the beneficial bacteria in your gut. (Source: https://www.healthline.com/nutrition/food-as-medicine#nourishment)

HEART-HEALTHY FOODS: "You can reduce your risk of developing cardiovascular disease by eating certain foods every day," says preventive cardiology dietitian Julia Zumpano, RD, LD. "There is a great variety of fruits and vegetables that are good for your heart." She recommends eating foods that are in their natural form, coming from the ground, as in a whole-foods diet. That includes foods such as nuts, fish, whole grains, olive oil, vegetables and fruits. Zumpano says don't be afraid to treat yourself occasionally to a glass of red wine or a piece of dark chocolate. She suggests using this list as a guide to create meals and snacks with a healthy focus which could make a big difference in cardiovascular health. Some foods to consider are salmon, tuna, herring or trout; nuts such as almonds or walnuts; blueberries, strawberries and blackberries are full of phytonutrients and soluble fiber. Flaxseed and chia seeds provide omega 3, fiber and protein. Oats can top off yogurt or salads. Beans like garbanzo, pinto, kidney or black beans, are high in fiber, B-vitamins and minerals. Veggies bright in color like carrots, sweet potatoes, red peppers and tomatoes are packed with carotenoids and vitamins. Fruits such as oranges, cantaloupes and papaya are rich in beta-carotene, potassium, magnesium and fiber. (Source: https://health.clevelandclinic.org/12-heart-healthy-foods-to-work-into-your-diet/)

FOOD AS MEDICINE'S NEXT BIG THING: Joanna Hunter, RDN, owner of Vita Nutrition Services in New Jersey believes nutrigenomics, "you are what you eat", is the next big thing. We're in exciting times in terms of technological and healthcare advancements and as scientists and researchers learn more about genetic make-up and how food effects our DNA, advancements have been made in the relatively new field of nutrigenomics. Researchers believe there is a possibility we will be able to "eat for our genes". Breakthroughs in this field would allow dietitians to cater their meal plans to specific individual genetic expressions. This could possibly impact not only the everyday health of an individual, but also help ward off disease linked to family history like certain cancers, diabetes and obesity. Instead of healthcare professionals giving more recommendations like eat more vegetables, they would be able to say exactly what types of foods each person would need to eat to thrive. (Source: https://www.thediabetescouncil.com/nutritional-breakthroughs/)

More:
Angels in the kitchen: Medically tailored food for congestive heart failure - WNDU-TV

Since CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) gene editing was discovered in 2012, the technology has garnered a lot of attention and generated significant excitement for its ability to make precise, permanent changes to DNA in animals and plants.

By altering genetic sequences, CRISPR has the potential to provide novel therapies for patients suffering from severe diseases caused by a single gene mutation, including sickle cell disease (SCD), cystic fibrosis and Huntingtons Disease. CRISPR is also being investigated as a treatment for acquired immune deficiency syndrome (AIDS) and to improve anti-tumor immunotherapy. Its use will no doubt expand beyond these disease areas as the technology evolves. CRISPR gene editing may also be used to improve crop resilience, improve yields and boost nutritional value to help feed the growing world population with the finite resources available.With constant conversations examining the potential of the technology, it can be hard to focus on what has been achieved since 2012 and to look toward the future to determine what may be achievable both in the near and longer term.

In 2019, Vertex Pharmaceuticals and CRISPR Therapeutics opened clinical trials to treat b-thalassemia and sickle cell disease by using genome editing to re-activate expression of fetal hemoglobin in the patients own hematopoietic stem cells, functionally replacing the defective b-hemoglobin gene that causes these disorders. This trial will run in the US, Canada, and Europe.

Both of these trials involve CRISPR editing performed ex-vivo, wherein patient stem cells are removed, genome editing is performed in a laboratory and the modified cells are later reinfused to the patient as the active therapy. An in vivo human clinical trial was opened by Editas Medicine and Allergan in 2019 to treat Leber congenital amaurosis 10 (LCA10), an inherited form of blindness, by direct subretinal injections of a CRISPR AAV viral vector.

Although these trials represent the first use of CRISPR methods to treat human diseases in the US, the first CRISPR clinical trials were actually performed in China, and nine trials are currently listed as actively recruiting patients in China on the US Government Clinical Trials database.

These studies will take years to run and analyze results. Throughout the process, a key focus will be the monitoring of any off-target effects (OTEs) in these patients. CRISPR gene editing relies on pre-programmed nucleases that target specific sequences in the genome and then introduce cuts into the DNA strands. These cuts allow for the removal of existing DNA and replacement with modified DNA. However, cleavage and editing may occur at additional sites with similar sequences to those found at the intended site. In addition, even targeting the right sequence can produce unintended effects since we still do not have a full understanding of the function of each gene.

Therefore, there remains a need to continue to better predict and control OTEs, and one way to do so is by improving the specificity of the tools used in CRISPR gene editing. This is a focus of our work at Integrated DNA Technologies (IDT), and we have developed a new Cas9 enzyme that improves targeting specificity and reduces OTEs compared with the wild type (WT) enzyme. To do so, we created an unbiased bacterial screen to isolate Cas9 variants that provide highly specific cleavage with minimal OTEs, while keeping the nuclease activity comparable with that of WT Cas9. The results of this work and clinical utility were published in Nature Medicine in 2018.1 As the most active and specific high-fidelity Cas9 variant available when delivered as a ribonucleoprotein (RNP) complex, HiFi Cas9 is ideal for use in clinical studies.As clinical studies of gene therapies continue to generate interest in the mainstream media and among lay audiences, it will be important to improve the understanding of what CRISPR is and the potential it offers, as well as clarify the difference between germline and somatic gene editing to prevent misinterpretations. If the pace of scientific progress moves faster than the pace of consumer awareness and understanding, there is a risk that the technology will face public rejection, as is sometimes seen today for the introduction of genetically modified organisms (GMOs) in agriculture.

Research is underway to determine CRISPR gene editings potential to improve food-related outcomes, including developing soybeans lower in unhealthy fats, bolstering the cacao plants ability to defend itself against a virus and developing tomato plants that produce more tomatoes.2 In the future, we may also start to see CRISPR improving crop efficiencies by developing corn that is able to withstand droughts or vegetables that have been fortified with nutrients, as well as greater access to gene edited foods since it is simpler, safer, cheaper and quicker than historical methods used to produce the first generation of genetically modified organisms (GMOs). As such, we may well find CRISPR-engineered foods available in markets before CRISPR-based therapies are approved and available.

The potential of gene editing cannot be ignored, but there are still many hurdles, both scientific and societal, that must be overcome. The societal hurdles, which are no less significant, result from the rapid pace of scientific change and require consumer understanding and knowledge to keep pace. Ensuring that publicly available information is accurate, accessible and easy to understand will be critical to increase the scientific literacy of the general public and support scientific progress. These hurdles will require the entire scientific community, and beyond, to come together to overcome but could lead to one of the greatest scientific revolutions in recent times.

References:

1.Vakulskas CA, Dever DP, Rettig GR, Turk R, et al. (2018) A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells. Nature Medicine 24, 12161224.

2. Niler, E. (2018) Why Gene Editing Is the Next Food Revolution. National Geographic.

See the article here:
Looking Back on Gene Editing Advances in 2019 and Towards What the Future May Hold - Technology Networks

For centuries, the Habsburg family ruled across much of central Europe and were bound by more than just a last name many members also share a large, protruding lower mandible known commonly as the Habsburg jaw. New research suggests that this prominent feature was likely the result of generational inbreeding.

For more than 200 years, the Austrian and Spanish families intermarried, securing their name and power across much of the continent. Ironically, this intermarriage ultimately led to the familys downfall when the final monarch was unable to produce an heir. Now, the researchers say that the tell-tale family jaw was more than just a hereditary trait.

"The Habsburg dynasty was one of the most influential in Europe, but became renowned for inbreeding, which was its eventual downfall. We show for the first time that there is a clear positive relationship between inbreeding and appearance of the Habsburg jaw," said study author Roman Vilas from the University of Santiago de Compostela in a statement.

Researchersused the Habsburg dynasty as a genetic laboratory and consulted 10 maxillofacial surgeons to analyze the facial deformities in 66 historical portraits that are housed in museums around the world. Surgeons were asked to diagnose the degree of 11 features of mandibular prognathism (MP), or Habsburg jaw, and seven features of maxillary deficiency (MD), which is characterized by a prominent lower lip and an overhanging nasal tip. Genetic analysis of more than 6,000 individuals from more than 20 generations also found a strong relationship between the degree of inbreeding and the degree of MP.

The individuals with great inbreeding coefficient showed also extreme versions of these conditions: King Charles II, Margarethe of Spain, and King Leopold II. Of those analyzed, Mary of Burgundy, who married into the family in 1477, had the least degree of both traits.

Since we have deep and accurate genealogies of the kings and queens of the Spanish Habsburg dynasty, we can use this to our advantage to study the relationship of inbreeding and the human face. The fact that a complex trait change under inbreeding is proof of its dominant genetic architecture, study author Francisco Ceballos told IFLScience.

In other words, traits that have some dominant component in their genetic architecture will be changed by inbreeding through a phenomenon called inbreeding depression, a reduction in biological fitness that suggests the Habsburg jaw may be considered a recessive gene.

We learned several things through this study. First that the Habsburg jaw is not just a prognathism problem but the combination of two issues: prognathism (MP) and the maxillary deficiency (MD). We found also a great correlation between these two traits (MP and MD) and that the mandibular prognathism is affected by inbreeding, Ceballos explained, adding that MP and MD are both correlated and may have two different genetic architectures and inherited patterns.

The authors are quick to note that they cannot rule out that the Habsburg face is simply a hereditary trait and that their study, published in the Annals of Human Biology, is a first approximation of the genetic architecture of the human face. Additionally, the study is of a low sample size.

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Famously Large Jaws Of Influential European Dynasty Likely The Result of Inbreeding - IFLScience

Its been a year since He Jiankui announced that hed made the worlds first gene-edited human babies, twin girls with the pseudonyms Lulu and Nana. Widespread condemnation of his actions followed the announcement. But the facts of the case remain unclear, because he has not been transparent about his work.

In his single public appearance following his announcement, at the Second International Summit on Human Genome Editing in Hong Kong in November 2018, He presented his work by racing through about 60 slides in just 20 minutes. Although he showed data about what he had done to the twins genes, it was blink-and-youll-miss-it, and not enough to convince anyone of his claim that hed safely edited the genomes of the human IVF embryos that became Lulu and Nana.

At the summit, He did say hed just submitted a manuscript describing this work to a scientific journal. Twelve months later, however, the manuscript has remained unpublished and its contents mysterious.

He was asked at the summit why he hadnt posted his manuscript to a preprint server such as bioRxiv or on a public websitesomething scientists frequently do to invite feedback on early drafts. He claimed that hed intended to do so, but colleagues had advised him to allow the manuscript to go through peer review by other scientists before posting it. (Normally, formal peer review takes place only when an academic journal is considering publishing a paper.)

By deciding not to release his manuscript right away, He has made it difficult for other scientists to figure out exactly what he did and how he did it. We already know that there were profound ethical problems with Hes work in germline gene editing, which refers to genetic alterations to embryosor to egg or sperm cellsthat can be passed down through the generations. But its scientific merit, and especially its safety, have remained in question.

When I first had the opportunity to look through a complete manuscript from He last November, I immediately realized there were problems.

The most serious was rampant mosaicism. This means that the gene edits He made to the embryos didnt take effect uniformly: different cells showed different changes. Evidence of mosaicism is present in both Lulus and Nanas embryos, as well as in Lulus placenta, making it likely the twins themselves are mosaic. Some parts of their bodies may contain the specific edits He said he made, other parts may contain other edits he didnt highlight, and yet other parts may contain no edits at all. This would mean that the purported benefit of Hes editing HIV resistancemay not extend to the twins entire bodies, and they could still be fully vulnerable to HIV.

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When judging whether the embryos had edits, He took a few cells from the 200 to 300 present in an IVF embryo and analyzed their DNA. But it was the remaining cells went on to multiply to make up the full body. So it is possible that some parts of the twins bodies have edits that He didnt intend to make (off-target edits) and never had a chance to see. Such off-target edits could cause problems such as cancer and heart disease, and could be passed on to Lulus and Nanas future children.

He apparently didnt realize that his own data revealed extensive mosaicism in the embryos, since he made no note of it in the manuscript I saw. Some have wondered if the CRISPR twins were actually a hoax, but to me, the flaws evident in the data make it clear that they werent. Rather, Hes work was a graphic demonstration of attempted gene editing gone awry. Two living human beings, and potentially their descendants too, will bear the consequences.

You shouldnt have to take my word for any of this. You should be able to judge for yourself, or at least hear what other scientists have to say about it.

However, it seems increasingly unlikely that He will be publishing in a peer-reviewed journal. For one thing, I doubt that any respectable journal would seriously consider publishing research with such ethical problems. And even if one did, and sent the manuscript for peer review, He would be in no position to respond to any technical criticisms with further experimental work. He has been under house arrest, and his laboratory was shut down shortly after his announcement about the twins last year.

The only reason to continue keeping Hes work under wraps would be to preserve his ability to publish it someday in a peer-reviewed journal and earn the imprimatur of scientific quality. The community is under no obligation to grant him this privilege. Indeed, it owes him no professional courtesy at all, any more than it would have owed such courtesy to the doctors responsible for the medical experiments in Nazi Germany or the American scientists in charge of the Tuskegee syphilis study.

Rather, in light of the egregious scientific and ethical lapses inherent in Hes cavalier and secretive efforts to make the worlds first gene-edited babies, it is he who owes all of us a full accounting of his actions. Since he has shirked his responsibility to make his work public, its up to others to step in.

Why must the information be public? Its because Hes work reveals serious, unresolved safety concerns. Its not clear that any effort to directly edit human embryos, even if done ethically and with full social approval, can reliably avoid these problems.

International committees convened by the World Health Organization, the US National Academies of Medicine and Sciences, and the Royal Society are currently working to propose regulatory frameworks for doing clinical germline gene editing safely, if it is to be done at all. How can the committees properly do their work without fully understanding all the scientific problems with the single real-world application of clinical germline gene editing thats been attempted to date?

Most worrying is that scientists like Denis Rebrikov in Russia aspire to follow in Hes footsteps. Rebrikov has said hell be able to edit the human germline safely. But how can Rebrikov credibly claim to be able to do better than He if the nature of the problems with Hes work arent widely known? How can the Russian authorities properly evaluate the safety of his proposals without being able to refer to Hes work for guidance?

Its time for the scientific community to fully understand what happened with Lulu and Nana, and to avoid stumbling down a path toward further ill-starred experiments with clinical germline gene editing.

Kiran Musunuru is an associate professor of cardiovascular medicine and genetics at the Perelman School of Medicine at the University of Pennsylvania and the author of The CRISPR Generation, a book about the history of gene editing and the Chinese twins.

Read more from the original source:
Opinion: We need to know what happened to CRISPR twins Lulu and Nana - MIT Technology Review

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.

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.

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.

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.

Excerpt from:
Hating vegetables could be in your genes, study shows - The Union Leader

Dr David Glass - MBChB, FCOG (SA)

Many people feel mental ill-health is a sign of weakness, but the brain is as much a part of the body as the heart, or the kidneys or the hip joint. Just as these other organs can be diseased with conditions like atherosclerosis, or renal failure or arthritis, so too the brain can be affected by our lifestyles and general health. When one considers that 25% of the energy used in the body is consumed by the brain, and the brain is the most vascular organ in the body, it is not surprising that health conditions affecting the body also affect brain function. People who adopt a healthier lifestyle often comment upon how much more alert and better they feel about life. And isnt that important, if you are going to live longer from a healthier body, to also feel more positive about life and have greater zest for living, a clearer mind and better memory?

ALSO READ : Turning the Tide The Role of Exercise in Restoring Vitality (Part 6)

On the 21st of August this year, the South African College of Applied Psychology published a blog on their webpage entitled The shocking state of mental health in South Africa in 2019. You can read the full article here

To summaries the conclusions:

In the South African Stress and Health (SASH) study done back in 2003-2004, it was estimated that up to 30% of South Africans will develop some sort of mental health dysfunction in their lifetime this can range from mood disorders or mild anxiety states through to severe illnesses requiring admission to hospital and specialist care.

Up to 70% of primary care visits (consultations to a doctor or clinic) are related to stress and lifestyle in the USA, and it is likely that this figure is similar in South Africa.

Chronic stress is the response to prolonged emotional pressure in which an individual feels they have little or no control. It results in the release of adrenalin and cortisol by the endocrine system. This can lead to high blood pressure, inhibition of growth in children, suppression of the immune system and damage to mental health, amongst other consequences. That can result in all sorts of reasons for doctor visits, including chronic diseases, acute infections, non-specific pain and general ill-health.

The cause of mental illness is complex and involves both non-modifiable (e.g. genetic) factors, as well as modifiable (e.g. social and lifestyle) factors. Lifestyle medicine aims to address the modifiable factors. We know that depression is often an accompaniment to chronic diseases like diabetes, coronary heart disease, arthritis and cancer. It can also affect long term risks of these conditions. For instance people with coronary heart disease and depression have a poorer prognosis up to 30% greater risk for subsequent future coronary events. Some of this comes directly from the effects of stress and depression on the hormonal function of the body with the release of cortisol; but if a person is depressed they are also less likely to change their lifestyle that contributed to the heart disease in the first place things like smoking, eating junk food, inactivity and lack of purpose in life.

The two most common emotional health conditions are anxiety and depression. A valuable screening tool in the hands of a busy doctor to assess for these two conditions is the following set of questions. This is called the Patient Health Questionnaire for Depression and Anxiety (PHQ-4), and you can do the quiz yourself:

Add the total score for the four items.

If your score is more than 6 over a period of 2 weeks or more, you probably need to see a doctor for assessment and possible treatment.

Lifestyle Medicine works in partnership with pharmacology and psychotherapy in managing mental health issues. It is not antagonistic, and cannot replace the role of mental health practitioners. I do believe mental health practitioners are becoming more aware of the role of lifestyle interventions in the management of mental health issues. But as in all spheres of medicine, there is still more that can be done.

Next week we will present some of the lifestyle interventions which can help to reverse many mild mood disorders, and go a long way to improving the quality of our mental health in more severe conditions.

To a healthy mind and body and a positive outlook on life,

Dave Glass

Dr David Glass MBChB, FCOG (SA)

Dr David Glass graduated from UCT in 1975. He spent the next 12 years working at a mission hospital in Lesotho, where much of his work involved health education and interventions to improve health, aside from the normal busy clinical work of an under-resourced mission hospital.

He returned to UCT in 1990 to specialise in obstetrics/gynaecology and then moved to the South Coast where he had the privilege of, amongst other things, ushering 7000 babies into the world. He no longer delivers babies but is still very clinically active in gynaecology.

An old passion, preventive health care, has now replaced the obstetrics side of his work. He is eager to share insights he has gathered over the years on how to prevent and reverse so many of the modern scourges of lifestyle obesity, diabetes, ischaemic heart disease, high blood pressure, arthritis, common cancers, etc.

He is a family man, with a supportive wife, and two grown children, and four beautiful grandchildren. His hobbies include walking, cycling, vegetable gardening, bird-watching, travelling and writing. He is active in community health outreach and deeply involved in church activities. He enjoys teaching and sharing information.

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Turning the Tide Lifestyle Medicine and Emotional Health (part 1) - South Coast Herald