Category Archives: Genetic Medicine

BETHESDA, Md., Nov. 13, 2019 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) have released an important new joint consensus recommendation that will guide the evaluation of constitutional copy number variants (CNVs), encourage consistency and transparency across clinical laboratories, and lead to improved quality of patient care.

The extensive and detailed recommendation, "Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)," is the result of a joint collaborative working group of ACMG and ClinGen, working together since 2015, to update the existing ACMG clinical laboratory practice standards for evaluating CNVs. Copy number analysis is recommended as a first-tier approach for the evaluation of individuals with neurodevelopmental disorders, such as intellectual disability, developmental delay and autism spectrum disorder, as well as for individuals with multiple congenital anomalies and for fetuses with ultrasound abnormalities.

"It is our hope that having standards that are widely available, up to date, and flexible enough to incorporate lessons learned from the ever-evolving clinical genomics knowledge base will help to reduce discordance in clinical classifications and will improve clinical care," said Christa Lese Martin, PhD, FACMG, the paper's senior author.

The recommendation represents a significant update from previous recommendations published in 2011 entitled "American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants," and is intended to complement the widely cited 2015 paper for sequence variants, "Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology."

The updated technical standards include several major changes from the previous document. The first major change is using the same five-tier system used in sequence variant classification: pathogenic, likely pathogenic, uncertain significance, likely benign, and benign. The previous standards recommended utilizing "likely pathogenic" and "likely benign" as sub-categories under "uncertain significance" (essentially a 3-tier system). Harmonizing copy number and sequence variant terminology will become increasingly important as the identification and classification of both types of variants within a single platform becomes more commonplace.

The second major change encourages laboratories to uncouple the classification of the variant from the clinical significance for the patient. While the patient's phenotype may be an important piece of evidence to consider when determining the classification of the variant, it should not override other evidence for or against the pathogenicity of the variant, and it should not be used to justify different classifications of the same variant in different individuals. For example, loss of function variants in a particular gene are known to cause hearing loss; there is enough evidence to warrant calling deletions of this gene pathogenic. A deletion of this gene in an individual not reported to have hearing loss should not be called "uncertain significance" solely because hearing loss was not their reason for referral; this could represent an incidental finding with potential implications for the individual's future health, or a cause for a phenotype that was not reported. The practice of changing the variant classification based on whether it explained the stated reason for referral has the potential to result in both inter- and intra-laboratory variant classification discrepancies; this change is intended to help reduce this issue.

The most substantial change is the incorporation of points-based scoring metrics to systematically guide laboratories through the classification of copy number losses and gains. In this scoring system, the various types of evidence considered when evaluating CNVs are awarded points based on their relative strengths, with positive point values for evidence for pathogenicity and negative point values for evidence against pathogenicity. At the end of the evaluation, the sum of all accumulated points leads to a suggested classification. "The scoring metrics are intended to be a guide to provide more structure and transparency to the CNV evaluation," said Erin Rooney Riggs, MS, CGC, the paper's lead author. "We have developed this type of quantitative metric for other types of curation within ClinGen which are being used successfully to increase consistency in data interpretation. With education and experience, we anticipate that the use of these metrics, as well as the other recommendations in these updated technical standards, will lead to increased consistency in constitutional CNV classification."

The recommendation states, "Although these standards attempt to comprehensively incorporate commonly available resources and processes used in CNV classification and interpretation, it is important to recognize that no singular algorithm will be applicable in all potential scenarios.The semi-quantitative scoring framework is meant to serve as a guide. Professional judgment should always be used when evaluating the evidence surrounding a particular genomic variant and assigning a classification."

The working group and authors on the new joint consensus recommendations include: Erin Rooney Riggs, MS, CGC; Erica F. Andersen, PhD; Athena M. Cherry, PhD; Sibel Kantarci, PhD; Hutton Kearney, PhD; Ankita Patel, PhD; Gordana Raca, MD, PhD; Deborah I. Ritter, PhD; Sarah T. South, PhD; Erik C. Thorland, PhD; Daniel Pineda-Alvarez, MD; Swaroop Aradhya, PhD and Christa Lese Martin, PhD.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation for Genetic and Genomic Medicine

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and avoice for more than 2,300 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine andhealthcare,resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a GeneticService' tool. The educational and public health programs of the ACMG are dependent uponcharitable gifts from corporations, foundations and individuals through the ACMG Foundation forGenetic and Genomic Medicine.

About the Clinical Genome Resource

The Clinical Genome Resource (ClinGen)is a National Institutes of Health (NIH)-funded resourcededicated to building an authoritative central resource that defines the clinical relevance of genesand variants for use in precision medicine and research. Since 2012, ClinGen has worked tofacilitate responsible genomic and phenotypic data sharing between clinicians, clinicallaboratories, researchers, and patients; to develop and implement standards to support clinicalannotation and interpretation of genes and variants; to enhance and accelerate expert review ofthe clinical relevance of genes and variants; and to disseminate and integrate ClinGen knowledgeand resources to the broader community. ClinGen is primarily funded by the National HumanGenome Research Institute (NHGRI) through the following three grants: U41HG006834,U41HG009649, and U41HG009650.

Kathy Moran, MBA

kmoran@acmg.net

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Important New Joint Consensus Recommendation from the ACMG and ClinGen Provides Technical Standards for the Interpretation and Reporting of...

Extending the Healthy Human Life Span

For millennia, humans have dreamed about extending their lives. Today, medical assessments are available that can impact longevity, identify risks for disease, and provide early diagnosis for serious diseases, including insights into critical areas such as coronary artery disease, neurovascular disease, dementia, cancer, and metabolic disease.

Looking at the past 30 years medical practice, we can see that the physician is the integrator of data: He takes a family history and performs a physical exam and basic blood work to make an assessment of the patients health. The tools are familiar: blood pressure cuff, thermometer, and otoscope (checking ears and nose).

The next generation of medicine has machine learning and artificial intelligence as the integrators of data alongside the physician. Inputs involve more detailed information to analyze current health status, including whole-genome sequencing, whole-body and brain MRI (imaging), and advanced bloodwork, all to reveal a precision, personalized, and integrated look at potential risks as well as immediate issues.

[To read more of Dr.Ram Dandillaya s thought leadership click here]

Measure What Matters

If we compare how we measure and monitor our cars, finances, social media, and a myriad of other aspects of our lives to how often and detailed we measure our health status, we might see where preventive measures might help extend our lives.

Craig Venter co-founded Human Longevity Inc. in 2013 and established the Health Nucleus in 2015, a serene and sophisticated research and discovery center based in La Jolla, Calif. By implementing whole-genome sequencing with whole-body and brain imaging and a full and complete set of blood tests, the health assessment these companies offer is truly data driven. That is, unlike more recreational DNA kits, we believe that the code should be assessed with all 6B base pairs. Its not a superficial exam, but rather a deep assessment integrating all results to achieve one of the most precise and personalized assessments available.

An example of our work may be seen in a recent study soon to be published that reviewed 1,190 healthy clients who visited the Health Nucleus. Many received the peace of mind that they are on track with their health: exercising, maintaining a healthy weight, eating nutritious foods, and finding balance in their lives. We also found that a significant portion actually had findings that required medical attention.

Highlights include:

1.7% confirmed cancers otherwise not previously known

2.5% brain and aortic aneurysms, several of which requiredfollow-upinterventions

7% with moderate to severe cardiovascular risk with significant calcified plaque in the coronary arteries

16% with aberrant cardiac structure or function findings

29% with elevated liver fat, which may indicate a risk for developing type 2 diabetes

86% genetic carriers for recessive diseases

17% have a rare genetic mutation

No longer a dream, assessing ones health in these critical areas is not only extremely pertinent to most people but is especially important for addressing chronic, age-related diseases, many of which may be positively impacted by behavior changes, including changes in diet and lifestyle.

On staff at Health Nucleus as chief medical officer is Thomas Caskey, MD, FACP, FACMG, FRSC. A world-renowned expert in clinical genetics, he is part of the team that reviews genetic data and offers advice to our clients through our genetic counselors and medical team. Dr. David Karow serves as president and chief innovation officer and has published numerous papers on early prostate cancer detection through noninvasive, advanced MRI. More recently, he has focused on integrating imaging and genomic biomarkers for identifying disease risk long before disease onset. Recommendations from functional medicine physicians, especially when it comes to taking next steps in improving health, are also important future attributes for the Health Nucleus assessment.

As a cardiologist, my practice Atelier Health is based in Beverly Hills and I have adopted the Health Nucleus protocol with my patients. Using the same testing, I access MRI technology locally, and the Health Nucleus provides the blood, genetic, and image integration to produce a Health Intelligence Report, which I deliver to my patients approximately six weeks after the initial assessment, during a return-of-results session in my office. One of the reasons I am looking forward to providing this assessment to my clients is found in reviewing past client experiences at the Health Nucleus facility. Three in particular show the benefits of how this early assessment provides benefits from peace of mind, from revealing genetic predisposition to early diagnosis of cancer.

One client, Nick B. credits forward-thinking technologists, medical professionals, and scientists who are creating a 21st century approach to healthcare. Human Longevity, through their Health Nucleus assessment, gave me access to the technologies required to detect and prevent diseases of all forms. What followed on from this visit was a complete transformation in my approach to my own health and wellnessfrom the way I eat to my exercise routine, the supplements I take, and how I interact with my own GP doctor back at home.

Bill F. was looking to live a long life, but more importantly a long, healthy life. Instead of just seeking health insurance, he sought health assurance and declared that he wanted to be active and productive until 100. After the experience, Bill noted, Thankfully they found no problems with [my] brain, cholesterol, or balance, although I learned I needed to lose weight and build muscle mass, and I saw I was susceptible to deep vein thrombosis.

Joe N., a Health Nucleus client, recalled how the Health Nucleus discovered a 2.8cm tumor on his left kidney, only four months after he went through his annual physical. He reports, Because the cancer was caught early, I was fortunately able to have the tumor quickly removed through an outpatient ablation procedure, thus avoiding inevitable chemo and radiation treatments. I now have new baseline metrics for my whole genome, brain health, internal organs, and cardiovascular system that empower me to be even more proactive in managing my health.

The goal of Atelier Health is to deliver the highest-quality medical care by focusing on technology designed to optimize the health span. With the understanding that the root causes of many diseases are based on both genetic and lifestyle factors, the Atelier Health/Health Nucleus partnership is a unique one. The practice also offers traditional concierge medical care. The initial evaluation process generally involves an extensive history and physical followed by a thorough battery of tests. This process may take one or two days, depending on the extent of testing.

[For more on Atelier Healths approach click here]

The integration of genetic analysis, advanced imaging, and biomarkers in a multispecialty platform allows for comprehensive care in both health and disease states. This 360-degree view of the patient creates meaningful discussion centered around cutting-edge therapeutics, nutrition, and fitness.

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Dr. Ram Dandillaya: Take Control of Your Health Today with a Precise and Personalized Assessment - csq.com

LONDON--(BUSINESS WIRE)--Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today confirms that NHS Wales has accepted an offer for all currently licensed Vertex cystic fibrosis (CF) medicines and any future indications of these medicines under the same terms as the recently announced agreement with NHS England.

This means that once the contract is finalized, patients with CF in Wales ages 2 years and older who have two copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene can access ORKAMBI (lumacaftor/ivacaftor) and CF patients ages 12 years and older who either have two copies of the F508del mutation or one copy of the F508del mutation and a copy of one of the other 14 licensed mutations can access SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftor in the coming weeks.

The agreement also offers expanded access to KALYDECO (ivacaftor) to include those patients ages 12 months and older who have one of the nine licensed gating mutations.

Todays announcement is good news for the approximately 270 eligible cystic fibrosis patients in Wales who will soon have access to CFTR modulators to treat the underlying cause of their disease, said Ludovic Fenaux, Senior Vice President, Vertex International. We thank the authorities in Wales for their collaboration in accepting this offer under the same terms as were recently announced in England.

About CF in the UKOver 10,000 people in the UK have CF the second highest number in the world. Over 430 people in Wales have CF. CF is a debilitating, life-shortening inherited condition that causes progressive damage to organs across the body from birth. Currently, there is no cure for CF and half of people in the UK with CF die before they are 32. The daily impact of treatment is significant. It can take up to four or more hours, involving nebulizers, physiotherapy and up to 70 tablets a day. CF accounts for 9,500 hospital admissions and over 100,000 hospital bed days a year. A third of these are used by children under 15.

About ORKAMBI (lumacaftor/ivacaftor) and the F508del mutationIn people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Patients with two copies of the F508del mutation are easily identified by a simple genetic test.

Lumacaftor/ivacaftor is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About SYMKEVI (tezacaftor/ivacaftor) in combination with ivacaftorSome mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

SYMKEVI is indicated for people with CF ages 12 and older who either have two copies of the F508del mutation or one copy of the F508del mutation and have one of the following 14 mutations in which the CFTR protein shows residual function: P67L, R117C, L206W, R352Q, A455E, D579G, 711+3AG, S945L, S977F, R1070W, D1152H, 2789+5GA, 3272-26AG, or 3849+10kbCT.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About KALYDECO (ivacaftor)KALYDECO (ivacaftor) is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

KALYDECO is indicated in people ages 12 months and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. KALYDECO is also indicated for the treatment of patients with CF ages 18 years and older who have an R117H mutation in the CFTR gene.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational medicines in other serious diseases where it has deep insight into causal human biology, such as sickle cell disease, beta thalassemia, pain, alpha-1 antitrypsin deficiency, Duchenne muscular dystrophy and APOL1-mediated kidney diseases.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the statements by Mr. Fenaux in the fourth paragraph of this press release, statements regarding our expectations for the patient populations that will be able to access Vertexs medicines and the timing of such access, and statements about our expectations regarding a formal agreement in Northern Ireland. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

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Vertex Confirms Wales Offer Accepted for Access to All Licensed Cystic Fibrosis Medicines - Business Wire

Think, for a minute, of all the qualifying medical conditions for which cannabis has been prescribed to manage pain, reduce inflammation, stimulate appetite or otherwise treat a symptom. Cancer. HIV/AIDS. Hepatitis. Crohns disease and ulcerative colitis. Epilepsy. Arthritis. Fibromyalgia. Glaucoma. Dozens more neurological, digestive, skeletomuscular and autoimmune diseases and conditions that are simply too numerous to list here.

Now consider the more than 100 cannabinoids present in cannabis. There are the ones everyone knows about, tetrahydrocannabinol and cannabidiol. But there are dozens of others that interact with the endocannabinoid system in different ways as agonists or antagonists to CB1 and CB2 receptors each with unique sedative, analgesic, antiproliferative, antioxidative, anti-inflammatory and antispasmodic properties, among others.

These various cannabinoids can be so effective at managing such a wide range of medical conditions because of the natural prevalence of the endocannabinoid system in the human body. CB1 receptors, whose interaction with cannabinoids like THC produce the psychoactive effects for which cannabis has drawn such a negative stigma in the past, are expressed primarily in the central nervous system. CB2 receptors, meanwhile, are expressed in the bodys white blood cells, giving the endocannabinoid system a large role in modulating inflammation and pain.

While they can be loosely categorised, the range of conditions for which medicinal cannabis is frequently prescribed isnt homogenous. Huntingtons disease and Parkinsons disease are both neurodegenerative conditions, but neurologists dont uniformly prescribe the same medication for each.

Why, then, would the approach to cultivating cannabis for medical purposes be anything different?

The medicinal cannabis industry is far from reaching its maximum potential. Today, medicinal cannabis growers are largely judged on how potent their products are, how much THC their buds contain. That mentality to cultivation should and will change. The combination of new research into plant genetics and more precise cultivation processes and practices will spawn a new wave of innovation in the cannabis industry that takes into account every property of the cannabis plant. This nuanced approach to using medicinal cannabis to more precisely treat or manage specific conditions can only be accomplished with the right amount of light delivered at the right plant stage over the right amount of time to yield a specific cannabinoid profile.

Its no surprise that the global stigma against and illegalisation of cannabis in the 20th century effectively halted meaningful research into its potential therapeutic effects. Its classification as a Schedule I drug in the US, with no currently accepted medical use, has and continues to be a farce.

A 2017 study from the National Academies of Science, Engineering and Medicine found conclusive and substantial evidence that cannabis or cannabinoids are effective for the treatment of chronic pain in adults, as antiemetics in the treatment of chemotherapy-induced nausea and vomiting (and) for improving patient-reported multiple sclerosis spasticity symptoms.

Despite the wave of legalisation and shifting public sentiment sweeping across Europe and North America, the industry and those suffering from medical conditions for which cannabis has already been substantiated to treat is still in dire need of sustained, detailed research. We need to know more about cannabis effects on various medical conditions, and more specifically, how different cannabinoids and cannabinoid profiles can be used to target specific diseases and symptoms.

A 2018 study authored by Dave Hawley, then a doctoral student at the University of Guelph in Ontario, Canada, reiterated the need for additional research to drive the next surge of innovation in the cannabis industry: Given the novelty of legal commercial cannabis production, relatively few developments have been made through breeding, genetic modifications or production strategies aimed at producing consistent cannabinoid and terpene profiles. Without access to consistent metabolite profiles, clinical studies have been unable to thoroughly assess the medical applications of cannabis on a broad scale.

There should be little doubt that the research for which Hawley calls is coming. The publics shifting view of cannabis, specifically its medicinal properties, will leave the medical, research and political communities little choice but to explore the plants new and evolving role in medicine. With it will come an experimentation and enhanced understanding of cannabinoid profiles of the more than 700 strains of cannabis. When that happens, we will be close to realising cannabis full medical potential because we will be producing strains with specific cannabinoid profiles that manage specific diseases.

Imagine a scenario in which a Crohns patient, for instance, can visit a medicinal cannabis dispensary and fulfill a physicians prescription for a strain of cannabis whose cannabinoid profile has been researched, developed and cultivated specifically to treat symptoms of Crohns. Now apply that concept to every qualifying medical condition for which cannabis can be prescribed. Its a tall order, and a vision that wont be realised overnight. But it is absolutely one worth pursuing.

Research, however, is only the first step. Realising this vision for medicinal cannabis requires precision lighting techniques that only LED systems can achieve.

Lighting performance in the cannabis industry is measured across four areas. The Resource Innovation Institute, a non-profit organisation establishing cannabis industry standards and incentives that drive conservation, lists four key areas of measurement for light performance:

To the average person, all of these terms and metrics sound more than a little derivative. To the average grower, they are some of the most important metrics that influence plant growth, yield and crop consistency.

These performance metrics vary depending on the type of lighting system used in cultivation. Today, only about half of cannabis grows use LED systems in the propagation, vegetation or flowering stages, though more and more are converting every year. The gradual conversion is due to several factors:

For medicinal cannabis cultivation, this last point is perhaps most important because growers will soon be judged by more than the percentage of THC in their products. Were starting to see this trend even in recreational cannabis use. Many dispensaries, for instance, have large printouts detailing the terpene profiles of their cannabis products on offer. With more and more research conducted into plant genetics and strain-specific cannabinoid profiles, patients will naturally be more inclined to shop for cannabis that meets their specific needs, which in turn places new pressure on growers to consistently match customer demand and expectations.

Under this new paradigm, optimising light spectra becomes an even more fundamental requirement for growers, and its in this area that LEDs truly shine. Weve known for more than a decade that LEDs can be optimised to specific production conditions by controlling periodicity, quantity and spectrum of light provided. Whats relatively new, however, is the growing understanding of the role LEDs play in developing cannabinoid profiles.

Last year, Fluence by OSRAM, a leading global provider of energy-efficient LED lighting solutions for commercial crop production, published the results of its work with San Francisco-based Eve Farms, which made the switch to energy efficient LEDs from HPS. Not only did Eve Farms increase cannabinoid and terpene production by 11%, it also saw new cannabinoids emerge in its plants that were totally absent under HPS lighting.

LEDs also have the added benefit of generating much less heat than HPS and other forms of lighting, and can be implemented as a means of supplemental sub-canopy lighting to maximise cannabinoid yield. Hawleys study evaluated bud yield, cannabinoid and terpene contents with and without sub-canopy LED lighting at various spectra. The study attributed increases in bud yield to greater photosynthetic photon flux density with supplemental sup-canopy lighting, and that red-blue sub-canopy lighting yielded a more consistent metabolite profile throughout the canopy. The study also found that red-green-blue sub-canopy lighting had the greatest impact on the up-regulation of metabolites.

More research into light spectras effects on cannabinoid profiles is required, as we are still only in the infancy of our understanding, but study after study has shown that optimised light spectrum, an inherent advantage of LED technology developed specifically for cannabis cultivation, can better manipulate plant morphology to yield new or different cannabinoid profiles that can maximise cannabiss medicinal potential and pioneer the next wave of innovation in the industry.

Emma ChaseFluencepr@fluencebioengineering.com

This article will appear inHealth Europa Quarterly Issue 11, which is available to read now.

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LEDs are spearheading the next wave of innovation in medicinal cannabis cultivation - Health Europa

In a clinical trial conducted at UAB, investigators have outlined the mechanisms behind lower natriuretic peptide levels in African Americans and racial differences in response to high-carbohydrate challenge.

In a clinical trial conducted at UAB, investigators have outlined the mechanisms behind lower natriuretic peptide levels in African Americans and racial differences in response to high-carbohydrate challenge.A new study published in Circulation Research by University of Alabama at Birmingham researchers shows that young, healthy African American individuals have lower natriuretic peptide levels as compared to whites. The study also showed that a decreased process, and increased breakdown, may be a reason behind the racial differences in NP levels. Furthermore, they found that whites had a greater decrease in their NP levels after a high-carbohydrate challenge, compared to African Americans.

Nirav Patel, M.D., a resident in theDepartment of Medicine, explained that the human heart is also an endocrine organ that produces hormones called natriuretic peptides. Lower levels of NPs have been suggested as significant contributors to the development of cardiometabolic diseases such as diabetes and hypertension in populations with low NP levels.

In the current study, the authors tested the hypothesis that the levels of this beneficial hormone are lower in young African Americans compared to young whites, and that there are racial differences in the response of this hormone to a high-carbohydrate challenge. Additionally, the investigators explored the reason behind these race-related NP differences.

To investigate, Patel and his team conducted a physiological clinical trial at UAB, which involved participants from the Birmingham area. The participants were given a glucose solution after five days of standardized diet, and subsequently the levels of NPs were measured.

In collaboration with a team at the University of Pennsylvania led by Kiran Musnuru, M.D., they looked at how the genes that control the production and breakdown of NPs are expressed in the heart tissues of African Americans and white individuals. The authors also evaluated induced pluripotent stem cell cardiomyocytes to understand the mechanisms behind the racial difference in NP levels.

Patel, the first author of the study, said this physiological trial helps in understanding the biological reasons behind racial differences in the occurrence of diseases like diabetes and hypertension, which are related to low levels of NP hormones.

African American race is an NP deficiency state, he said. Until now, we have not been able to understand the reasons behind this. Our work suggests that NPs are processed and broken down differently in African Americans, compared to whites. There is also a racial difference in the response of NPs to glucose. The important contributions of the participants of this trial have helped us understand the possible biological reasons behind the racial disparities in common cardiometabolic diseases.

NPs play an essential role in the various underlying disease processes that lead to the development of metabolic and heart diseases. The researchers found that racial differences in levels of NP are evident in healthy young adults and that impaired processing alongside increased breakdown may contribute to the race-based differences in NP levels.

The African American race is associated with relatively low NP levels, said senior author Pankaj Arora, M.D., an assistant professor in UABs Division of Cardiovascular Disease. Our work suggests that relative NP deficiency occurs in young healthy African Americans due to differences in the processing and clearance of NPs. This may contribute to the higher levels of cardiovascular and metabolic diseases later in life.

Arora added that he speculates reversing this NP deficiency in African American individuals may mitigate biological basis of racial disparities in cardiometabolic diseases.

By personalizing our preventive approach, we may be able to reverse this NP deficiency before the development of diseases like diabetes and hypertension, Arora said. The findings from our study suggest that the response of NPs in white individuals may be more vulnerable to dietary habits, such as high-carbohydrate intake. Given that NPs have a favorable role in our cardiovascular system and energy metabolism, we need to individualize our approach to prevent diabetes and hypertension based on the racial and genetic makeup of an individual.

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Heart hormones that affect development of diabetes, hypertension differ in African Americans and whites - UAB News

Sequencing the first human genome was an international endeavour that took more than ten years and cost billions of dollars. We have come a long way since and nowadays; anyone can have their genome sequenced for a few hundred dollars.

Technological advances have meant that genome sequencing is no longer restricted to the research environment. In fact, over the next five years, we expect that genomic data from over 60 million patients will be generated in the healthcare sector. However, if we want these data to reveal useful insights for human health, we must collaborate across national barriers and enable responsible data sharing in the research and clinical settings.

There are at least four areas of healthcare where genomics could yield significant benefits: infectious disease, rare disease, cancer and common or chronic disease.

For example, many rare diseases have a genetic component, so single-gene tests have been used to support diagnosis and treatment since the early 1990s. This enables families to manage the disease better and can bring patient retesting to a close. Genetic diagnosis can also inform parents about the disease odds for a future child and empower them to make informed family-planning decisions. In some cases, a successful diagnosis can even lead to improved treatment and quality of life.

Other areas are not as straightforward, but can still reveal useful insights. In the case of cancer patients, sequencing the tumour genome alongside a patients unaffected genome can reveal how the cancer developed and what kind of treatment it is more likely to respond to.

To draw insights from genomic data, we need large, diverse cohorts of hundreds of millions of people from all over the world. And while this seemed like a dream even as recently as ten years ago, the collective efforts of people worldwide are helping to create the infrastructure, standards and safeguards necessary to make this dream a reality.

There are still significant barriers to the widespread clinical implementation of genomics, including establishing sequencing and bioinformatics capacity to process samples, alongside data integration and interpretation challenges, workforce training and public perception.

The ethical considerations and concerns of genomic data sharing differ between countries and regions of the world, so in order to ethically and securely access to anonymised data from different populations, we need a way to perform federated data analysis without data movement. This means the data remains within national borders. Ethical considerations must sit at the heart of discussions regarding the future of genomics.

Just because technology allows us to do certain things, it doesnt necessarily mean we should.

Alongside the ethical challenges, there are numerous technical challenges for data harmonisation, analysis and data security. Setting standards and creating a federated system for healthcare data are essential. International collaborations such as the Global Alliance for Genomics and Health (GA4GH) are helping to accelerate the potential of research and medicine to advance human health. GA4GH brings together over 500 leading organisations from healthcare, research, patient advocacy, life sciences and information technology.

Just like the scientific community has previously set up infrastructure and standards for sharing nucleotide data, protein data, sharing research results and so on, it will now have to tackle this latest challenge of enabling responsible genomic data sharing.

Since 2013, the governments of at least 14 countries have invested in establishing national genomic medicine initiatives. In countries such as the UK, France, Australia, Saudi Arabia and Turkey, infrastructure and workforce development have been happening in parallel with large sequencing initiatives. In the UK, the 100,000 Genomes Project has already made its data available for approved researchers.

National initiatives in Switzerland, Brazil and Finland are focusing more on developing infrastructures, such as common standards and data-sharing policies. A number of European member states have aligned their goals in the Million European Genome Alliance (MEGA) project. In the United States, the All of Us research programme aims to gather clinical, genomic and lifestyle data from over one million people, to speed up research breakthroughs and enable new kinds of individualised healthcare. On the other side of the world, a potentially transformative project is Chinas Precision Medicine Initiative,a 15-year project aiming to sequence 100 million genomes by 2030.

The days when sequencing a human genome took years and cost billions are long gone. As we head towards an era of genomic medicine, we need not just technology, but also the infrastructure, standards, workforce and public awareness to help bring genomics into the clinic.

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Bringing genomics into the clinic: Challenges and potential to improve healthcare - Open Access Government