tag:theconversation.com,2011:/uk/topics/heart-disease-in-africa-28272/articlesHeart disease in Africa – The Conversation2018-10-11T10:41:17Ztag:theconversation.com,2011:article/1044632018-10-11T10:41:17Z2018-10-11T10:41:17ZWomen with heart disease in sub-Saharan Africa face challenges, but stigma may be worst of all<figure><img src="https://images.theconversation.com/files/240081/original/file-20181010-72117-yz379.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A nurse in Uganda uses a stethoscope to listen for heart problems at a screening and educational event Oct. 31, 2017.</span> <span class="attribution"><span class="source">Tao Farren-Hefer</span>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>Heart disease is the number one killer of women, <a href="https://www.goredforwomen.org/fight-heart-disease-women-go-red-women-official-site/about-heart-disease-in-women/facts-about-heart-disease/">claiming a female life every minute</a>. Yet it is often seen as a “man’s disease.” This disparity is magnified in sub-Saharan Africa, where we have recently <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194030">conducted an investigation</a> into the experiences of women living with rheumatic heart disease. </p>
<h2>Rethinking heart disease in the developing world</h2>
<p>Another prevailing myth that we often encounter is that cardiovascular disorders are not a major issue in the developing world. To the contrary, heart disease is already the <a href="http://www.who.int/mediacentre/factsheets/fs310/en/index1.html">number one cause of death</a> worldwide as well as in low- and middle-income countries. </p>
<p>This shift has, in part, been due to ongoing successes in fighting contagious epidemics, particularly HIV/AIDS and childhood infections. Industrialization and economic development of low-income nations has brought more food security and decreased reliance on manual labor. Yet, these changes have fueled an increase in noncommunicable disease such as diabetes, high blood pressure and high cholesterol, leading to a surge in cardiovascular disease.</p>
<p>In contrast to their high-income counterparts, patients in poor countries are struck by, and die from, <a href="https://www.healthaffairs.org/doi/pdf/10.1377/hlthaff.2017.0708">cardiovascular conditions at younger ages</a>. Their health systems are often unprepared to combat the dual tides of infectious and noncommunicable illnesses. Furthermore, the <a href="http://circ.ahajournals.org/content/circulationaha/132/17/1667.full.pdf">causes of heart disease</a> are somewhat different in poor countries, where the proliferation of “Western” maladies like heart attacks and hypertension are accompanied by “endemic” cardiovascular diseases of poverty such as rheumatic heart disease.</p>
<h2>An old foe, revisited</h2>
<p>Rheumatic heart disease is a preventable disorder that is a late effect of rheumatic fever, which ravaged Western Europe and the United States only a generation ago, <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa1603693">but is rarely seen now in these settings</a>. It is triggered by Group A <em>streptococci</em>, which causes strep throat. Some individuals will develop a systemic reaction known as acute rheumatic fever, which can <a href="https://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/rheumatic_heart_disease_85,P00239">permanently damage the heart valves</a>.</p>
<p>In the developed world, acute rheumatic fever is rarely seen, because strep throat is regularly treated with antibiotics. In developing nations, however, appropriate medications are often missed or are financially unfeasible. Rheumatic heart disease afflicts up to 43 million people worldwide and <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa1603693">leads to up to 1.4 million deaths each year</a>. It can have terrible consequences, including heart failure, irregular heart rhythms and debilitating <a href="http://rhdaction.org/what-rhd/complications-rhd">stroke</a>.</p>
<h2>Impact on women</h2>
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<img alt="" src="https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/240082/original/file-20181010-72106-99fib4.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Women at an educational health event in Kampala, Uganda on Oct. 31, 2017.</span>
<span class="attribution"><span class="source">Tao Farren-Hefer</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc-sa/4.0/">CC BY-NC-SA</a></span>
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<p>Women of childbearing age with rheumatic heart diseases are especially vulnerable, as the disorder places them at increased risk of <a href="http://www.pascar.org/uploads/files/Materna_and_fetal_outcome_in_women_with_RHD-_A_3_years_observation_study.pdf">complications during pregnancy</a>. Furthermore, the blood-thinning medications used to treat RHD can also raise the risk of <a href="http://www.acc.org/latest-in-cardiology/ten-points-to-remember/2016/10/10/22/03/anticoagulation-during-pregnancy-evolving-strategies">miscarriage and maternal hemorrhage</a>. Although pregnancy in this population is high-risk, only 3.6 percent of women with RHD of childbearing age <a href="https://academic.oup.com/eurheartj/article/36/18/1115/2293200">are on contraceptives</a>.</p>
<p>Our research group recently concluded a mixed methods study in Uganda of <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194030">women of reproductive age living with rheumatic heart disease</a> to better understand the lived experience of this population.</p>
<p>Several themes emerged: First, we discovered that female rheumatic heart disease patients understood that their disease increased their risk of complications and death during pregnancy. Nevertheless, they still felt pressure to take the risk, citing the societal pressures to have many children. In fact, 100 percent of our participants answered that society would look poorly upon a woman who cannot bear children.</p>
<p>Further, our findings suggest that it may not be women themselves who control reproductive decision-making: Male partners were usually drivers of reproductive intent, both directly (by petitioning their spouses for children) or indirectly (due to women’s fears of abandonment if unable to bear children). Tragically, 28 percent of participants reported that they had been left by their husbands or boyfriends due to perceived limitations in fertility, while 36 percent of participants confessed fear of abandonment by their male partners.</p>
<p>Compounding their challenges, participants suggested that contraception may be criticized, leading to poor adoption – a social norm <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0141998">previously reported</a> in Uganda and its <a href="https://www.ncbi.nlm.nih.gov/pubmed/26085021">neighbors</a>.</p>
<p>Perhaps the most striking finding, however, was that women living with heart disease experience considerable stigma. Because of its ubiquity, we do not consider cardiovascular conditions to be the source of much stigma in the developed world, yet it was spontaneously reported by our group. Several participants were suspected by friends and family of having HIV because they were observed taking medications for a prolonged period of time (as opposed to short durations for drugs such as antibiotics). </p>
<p>More surprisingly, our patients reported that they felt it may be preferable to have HIV than heart disease. They attributed this to the fact that having HIV may not limit their reproductive potential the way cardiac conditions do.</p>
<h2>Building systems, targeting future efforts</h2>
<p>In light of these sobering findings, our team also asked participants how they thought the current medical system could better serve their needs. First, patients suggested that health care providers discuss the reproductive consequences of the illness and its therapies. This concern has been echoed by women living with <a href="https://www.ncbi.nlm.nih.gov/pubmed/24238664">serious chronic disease</a> in Europe as well. In addition, women stated that doctors should involve male partners and family members in discussions about heart disease.</p>
<p>To that end, Uganda’s health system has commissioned an initiative to better care for women of reproductive age living with heart disease. Uganda’s first Women’s Heart Center is a collaboration between cardiology and obstetrics, a multidisciplinary effort to cross-refer patients who are pregnant or plan to become pregnant and have heart conditions. From the lessons we learned from our study, we hope to incorporate family counseling and public awareness campaigns to fight stigma against cardiovascular disease in women.</p>
<p>Our study suggests that there is still work to be done in identifying the comorbidities and downstream outcomes of this population. These are areas of ongoing investigation for our team. Nevertheless, we are optimistic that there are opportunities for improved family and societal education programs and community engagement, leading to better outcomes and patient empowerment.</p><img src="https://counter.theconversation.com/content/104463/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Allison Webel has received funding from the National Institutes of Health, the American Heart Association, Gilead Sciences, and the Midwest Nursing Research Society. </span></em></p><p class="fine-print"><em><span>Andy Chang was supported by a National Institutes of Health, National Center for Advancing Translational Science, Clinical and Translational Science Award (TL1TR001084). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.</span></em></p>Noncommunicable diseases are a growing problem in Africa. Among women, heart disease is a particular concern. Medication to treat it can interfere with pregnancy, making women undesirable partners.Allison Webel, Assistant Professor of Nursing, Case Western Reserve UniversityAndrew Chang, Cardiology Fellow Physician, Stanford UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/744122017-03-22T14:54:29Z2017-03-22T14:54:29ZHow we found the gene for a rare heart disease and why it matters<figure><img src="https://images.theconversation.com/files/160451/original/image-20170313-19256-1secaw1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p><em>Heart disease is the world’s <a href="https://www.heart.org/idc/groups/ahamah-public/@wcm/@sop/@smd/documents/downloadable/ucm_470704.pdf">number one killer</a>. In sub-Saharan Africa infections like HIV and TB take the lead but heart diseases such as heart muscle disease (or <a href="https://www.nhlbi.nih.gov/health/health-topics/topics/cm">cardiomyopathy</a>) are a close second as a cause of death. After 20 years of research scientists at the University of Cape Town have identified the mutations in a gene called CDH2, or cadherin 2, that’s responsible for an inherited form of heart muscle disease that affects the right side of the heart in a condition known as cardiomyopathy. The Conversation Africa’s Health and Medicine Editor Candice Bailey spoke to Professor Bongani Mayosi about the significance of the discovery.</em></p>
<p><strong>What is cardiomyopathy and what do we know about it?</strong></p>
<p>Arrhythmogenic right ventricular cardiomyopathy [ARVC]).</p>
<p>Cardiomyopathy is the technical term for a heart muscle disease. It is particularly feared because it can cause sudden death in people younger than 35, especially during athletic activity.</p>
<p>This is a condition in which the heart’s structure and function is abnormal without the usual causes of heart disease such as high blood pressure, coronary artery disease (which causes a heart attack), valvular heart disease, pericardial disease or <a href="http://heart.bmj.com/content/99/18/1317.long">congenital heart disease</a>. </p>
<p>We have been studying the form of heart muscle disease called arrhythmogenic right ventricular cardiomyopathy <a href="http://circgenetics.ahajournals.org/content/10/2/e001605.long">or ARVC</a>. In this disease, the muscle of the right side of the heart is lost and replaced by scar or fat. As a result, the heart is prone to beating irregularly and fast, causing sudden death because blood is not being effectively pumped to the rest of the body. </p>
<p>This is a rare condition that affects one in every 5000 people in the general population. People who participate in elite sport are prone to the condition if they are carriers of a genetic mutation. That’s why there’s a need to screen elite athletes for heart disease to prevent the onset of sudden death while exercising. </p>
<p>It’s an inherited disease. Often several generations of a family will suffer from the same condition. </p>
<p><strong>How is it treated?</strong></p>
<p>Treatment depends on the symptoms of the person affected with the condition. If a person has had <a href="http://www.heart.org/HEARTORG/Conditions/Arrhythmia/SymptomsDiagnosisMonitoringofArrhythmia/Syncope-Fainting_UCM_430006_Article.jsp">syncope</a> (fainting) or has been resuscitated from cardiac arrest, then a cardioverter defibrillator (ICD) needs to be implanted. This is a small device the size of a watch that s implanted under the breast muscle and has a wire that is inserted through the vein into the heart. It provides a shock to the heart in the event of an abnormal heart rhythm to prevent sudden death.</p>
<p>Sometimes an individual’s condition is discovered before symptoms develop, for example during family screening after a relative’s sudden death. In these cases the advice is to avoid activities – such as participation in competitive contact sports – that may predispose the affected individual to sudden death. Some individuals develop heart failure, in which case medication for the treatment of heart failure will be prescribed.</p>
<p><strong>So what is the breakthrough and why is it important?</strong></p>
<p>The importance of the discovery is twofold, and has both scientific and clinical impact. </p>
<p>On the one hand it helps to clarify the genetic mechanisms underlying ARVC which will assist with future research to develop drugs which could prevent sudden death. On the other hand it makes possible the early detection of many unsuspecting people who are affected by ARVC. In fact, often the diagnostic clinical signs of the disease become clear only after many years. If a subject with ARVC is a carrier of a mutation on the gene CDH2, we will know if other members of his family are genetically affected in a few days and we could immediately start preventive strategies. </p>
<p>This may lead to a reduction of cases of sudden death in patients with this mutation.</p>
<p><strong>What does it mean for cardiovascular studies?</strong></p>
<p>We have found a completely new mechanism to explain the underlying cause of sudden death. This is a seminal observation in biology and offers a new opportunity for a potential target for drugs. This will lead to new treatments being developed. </p>
<p>The finding is also important because it is proof to aspiring young scientists that discovery science is taking place in South Africa. And it’s important that the research was conducted in the public service – this will dispel the perception that the sector isn’t capable of producing such research and results.</p>
<p>We will now conduct large-scale screening activities to establish how common this gene is as well as work on understanding the gene better.</p><img src="https://counter.theconversation.com/content/74412/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Bongani Mayosi receives funding from the South African Medical Research Council, the Lily ad Ernst Hausmann Research Trust, the National Research Foundation of South Africa, the Wellcome Trust of the United Kigdom, the International Centre for Genetic Engineering and Biotechnology, AstraZeneca, Pfizer, Novartis, Servier, GSK Open Lab, Newton Fund, UK Medical Research Council, Oppenheimer Memorial Trust, National Institutes of Health, Mauerberger Foundation, Technology Innovation Agency, Department of Science and Technology, Discovery Foundation, and Medtronic, and Medtronic Foundation. He is affiliated with American Heart Association as Associate Editor of Circulation. </span></em></p>The discovery of a rare gene is twofold, and has a scientific and clinical impact in the fight against heart muscle disease.Bongani Mayosi, Dean and Professor of Medicine at the Faculty of Health Science, University of Cape TownLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/661672016-09-29T10:49:26Z2016-09-29T10:49:26ZWhy heart disease is on the rise in South Africa<figure><img src="https://images.theconversation.com/files/139569/original/image-20160928-541-1sj3viy.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p><em>In South Africa, <a href="http://www.heartfoundation.co.za/heart-awareness-month-0">210 people die</a> from heart disease every day. A lack of awareness around cardiovascular disease means many people go undiagnosed and untreated until it is too late. Paediatric cardiologist and President of the South African Heart Association Dr Liesl Zühlke explained the challenges around cardiovascular diseases to The Conversation Africa.</em></p>
<p><strong>Why is cardiovascular disease such a problem in South Africa?</strong></p>
<p>Cardiovascular disease is among the top three causes of death in <a href="https://books.google.co.za/books?id=Xx8jPAFj2aAC&pg=PA239&lpg=PA239&dq=Cardiovascular+disease+is+the+second+highest+cause+of+death+in+%5Bsub-Saharan+Africa&source=bl&ots=X0mcolgYo7&sig=iHLW1KzKXdKjZe118Ml3mXEoswA&hl=en&sa=X&ved=0ahUKEwja_57rq7TPAhVJIMAKHf41At0Q6AEIYzAP#v=onepage&q=Cardiovascular%20disease%20is%20the%20second%20highest%20cause%20of%20death%20in%20%5Bsub-Saharan%20Africa&f=false">sub-Saharan Africa</a>. This is partly because of <a href="http://link.springer.com/article/10.1007/s11739-016-1423-9">rapid urbanisation</a> which has resulted in an upsurge of coronary heart and coronary artery disease (also known as ischaemic heart disease) and metabolic disorders.</p>
<p>The challenge is that the prevalence of the major risk factors has increased in the last 10 years. The main ones include high blood pressure (hypertension), smoking, drinking excessively, poor eating habits, obesity and lack of physical activity. </p>
<p>Hypertension is the biggest single risk factor. One in three South African adults have hypertension and about 10% of the population over 15 years of age are pre-hypertensive. In the sub-Saharan African region, 30% of adults over the age of 18 suffer from hypertension. Globally this figure stood at <a href="http://gamapserver.who.int/gho/interactive_charts/ncd/risk_factors/blood_pressure_prevalence/atlas.html">22%</a> in 2014.</p>
<p>Hypertension is worsened by poor eating habits, obesity, lack of physical activity and excessive alcohol intake. </p>
<p>Research shows that physical inactivity <a href="http://www.world-heart-federation.org/cardiovascular-health/cardiovascular-disease-risk-factors/physical-inactivity/">increases the risk</a> of heart disease and stroke by 50%. </p>
<p>Obesity is a major risk for cardiovascular disease and predisposes one to diabetes which is itself a risk factor. Someone with diabetes is twice as likely to develop cardiovascular disease compared to someone without diabetes. </p>
<p>Abnormal blood lipid levels – or high cholesterol – also increases the risk.</p>
<p>With smoking, the risk is especially high for women and for people who started smoking when they were young or those who smoke heavily. </p>
<p><strong>What is cardiovascular disease?</strong></p>
<p>Cardiovascular disease is a series of heart diseases such as heart attacks, strokes, ischemic strokes and hemorrhagic strokes that are a result of heart failure. </p>
<p>Many of these diseases are related to a condition called atherosclerosis which develops plaque build-ups in the walls of the arteries. This narrows the arteries and makes it harder for blood to flow through. If a blood clot forms it can stop the blood flow, causing a heart attack or stroke. </p>
<p>Most people survive their first heart attack and return to their normal lives to enjoy many more years of productivity.</p>
<p>Ischemic strokes are the most common and happen when a blood vessel that feeds the brain gets blocked by a blood clot. When the blood supply to the brain is shut off, brain cells die. This results in people not being able to carry out some of their previous functions like walking or talking. </p>
<p>When a blood vessel within the brain bursts, the person suffers from a hemorrhagic stroke. The most likely cause of this is uncontrolled hypertension.</p>
<p>Some effects of a stroke can be permanent if too many brain cells die as a result of the lack of blood and oxygen to the brain. These cells are never replaced. </p>
<p>But some brain cells don’t die and are only temporarily out of order. These injured cells can repair themselves. Over time, as they repair, some body functions can improve. Other brain cells may take control of those areas that were injured. In this way strength, speech and memory may improve. Early recognition of stroke and heart attacks is thus critically important.</p>
<p><strong>What can be done? And what are the challenges?</strong></p>
<p>There are both modifiable and non-modifiable risk factors. Ethnicity and age are non-modifible and cannot be changed. </p>
<p>But modifiable risk factors that can be treated or changed are tobacco and alcohol use, high blood pressure, high cholesterol and diabetes, exercise and diet. </p>
<p>Hypertension can be prevented and successfully treated if it is diagnosed and kept under control. </p>
<p>And by changing to a healthy diet, exercising and taking medication regularly, blood lipid profiles can be modified and cholesterol controlled.</p>
<p>Reducing smoking or the amount of chewing tobacco someone consumes also decreases the risks of cardiovascular disease. </p>
<p>But the biggest challenge is the lack of awareness around cardiovascular disease and the hidden scourge of hypertension, undiagnosed diabetes and poor cholesterol. These have to be diagnosed with tests.</p>
<p>While smoking, obesity and physical inactivity are more easily identified they are far more difficult to treat and ameliorate. </p>
<p>An additional challenge is that there is less funding available to combat these diseases. </p>
<p>Government interventions around sugar and smoking are extremely important. Targeted interventions to improve health, reduce smoking and increase activity are needed. These would create awareness of cardiovascular diseases and its risks.</p><img src="https://counter.theconversation.com/content/66167/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Liesl Zuhlke receives funding from Medtronic Philanthropy through RHDAction and Hamilton Naki Scholarship Scheme administered through Netcare Physicians Trust.</span></em></p>Cardiovascular disease is the second highest cause of death in sub-Saharan Africa. But the lack of awareness around the disease means many people go untreated until it is too late.Liesl Zuhlke, Paediatric Cardiologist, Post-doctoral researcher., University of Cape TownLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/589622016-06-12T17:42:46Z2016-06-12T17:42:46ZWhy African genomic studies can solve the continent’s health issues<figure><img src="https://images.theconversation.com/files/125892/original/image-20160609-7093-9835mr.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genomic research in Africa will help explain the genetic risk factors of diseases that affect the world's poorest people.</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Genomic research has proven to be a considerably valuable tool in global attempts to tackle disease. </p>
<p>One crucial part of this research has been identifying diseases and health problems that are more likely to be influenced by genetic factors and assessing the risk of a particular disease in an individual. </p>
<p>Eventually scientists will be in a position to develop new ways to treat, cure or even prevent the thousands of diseases that afflict humankind. And it will also allow them to assess the risk that exposure to toxic agents poses to individuals.</p>
<p>But for the world’s poorest people, the diseases that affect them have remained understudied. This is mainly due to most of these studies focusing on the genetic risk factors for disease in European populations. </p>
<p>For example, recent <a href="http://www.ncbi.nlm.nih.gov/pubmed/27231129">studies</a> from Sweden’s Uppsala University show men with blood cells that don’t carry the Y chromosome – a sex chromosome normally only present in male cells – are at greater risk of being diagnosed with Alzheimer’s disease. They also have an increased risk of death from other causes, including many cancers. </p>
<p>But will African men be affected in the same way? African populations have evolved significantly over time. Their genetic composition is more diverse than that of European and other populations so this may not be the case. Very little is known about the nature and extent of this diversity. </p>
<p>With the high burden of disease in sub-Saharan Africa, medical research needs a significant boost on the continent to identify genetic risk factors for diseases and to tackle the spread of drug resistance and emerging infections. </p>
<p>Genomic research has gained considerable momentum on the continent in the past decade. But challenges, such as a lack of high-quality clinical and epidemiological data across all countries, still hamper efforts. </p>
<h2>A different genetic makeup</h2>
<p>Genetic research taking place in Africa has focused on the genomic and environmental risk factors for cardiometabolic disease in Africans. Cardiometabolic diseases are those associated with the heart and include strokes, heart attacks and diabetes. </p>
<p>According to the statistics, non-communicable diseases such as diabetes, cancer, heart disease and chronic respiratory illness have all <a href="http://www.afro.who.int/en/clusters-a-programmes/dpc/non-communicable-diseases-managementndm/npc-features/1236-non-communicable-diseases-an-overview-of-africas-new-silent-killers.html">skyrocketed</a> in sub-Saharan Africa in the past ten years. </p>
<p>Globally, more than 16 million people die from non-communicable diseases. Of these, 80% are in low- and middle-income countries. </p>
<p>Research teams are trying to understand the interplay between genetic factors, the changes in the way the gene expresses itself, or <a href="http://www.whatisepigenetics.com/fundamentals/">epigenetics</a>, and environmental risk factors for obesity and related heart diseases. They are using existing longitudinal cohorts from four countries: Kenya, South Africa, Ghana and Burkina Faso. And they have six study sites across these countries, which have undergone different population changes as a result of their individual burdens of disease.</p>
<p>The goal of this initiative, the first of its kind in Africa, is to develop the capacity to carry out these kinds of studies in populations around the continent. This would help scientists better understand the genetic and genomic markers for disease. </p>
<p>One of the diseases that the study is attempting to understand is alcoholism. </p>
<p>Global studies have shown that the amount of alcohol one drinks and whether this progresses to alcoholism has a <a href="http://journals.cambridge.org/download.php?file=%2FPSM%2FPSM41_07%2FS003329171000190Xa.pdf&code=fc8c518b7edd5761e6bbfbf916a408e1">genetic influence</a>. Separate <a href="http://www.wales.nhs.uk/sitesplus/documents/888/%2812%29%20Graham%20Burdge.pdf">findings</a> show that processes that are related to factors in the gene, but that do not change the sequence of the DNA, also play a role. These are known as epigenetic processes.</p>
<p>And in European, North American and Asian populations, <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181942/">research</a> has drawn a correlation between genetic variations for drugs and dependence. </p>
<p>Alcohol consumption and problems related to alcohol vary widely around the world but the burden of disease and death remains significant in most countries. It is the world’s third largest risk factor for disease and disability. </p>
<p>It is also one of the four risk factors that lead to people developing non-communicable diseases such as heart attacks and strokes. In middle-income countries, it is the greatest risk factor. </p>
<p>But very little is known about the risk of alcohol consumption in sub-Saharan African populations. This is despite statistics from the World Health Organisation listing 17 countries on the continent as <a href="http://www.who.int/substance_abuse/publications/global_alcohol_report/msbgsruprofiles.pdf">heavy drinking countries</a>. Nigeria takes the lead. </p>
<p>The high toll of alcohol and drug over-consumption among African populations means that this must become a priority. Understanding the genetic and genomic markers of diseases such as alcoholism would lead to research interrogating whether drug use and abuse are genetically linked. </p>
<p>And this could lead to an evidence-based approach to control drug use and abuse that fits the African context. It would help the continent improve its efforts to eliminate one of the four main risk factors for non-communicable disease.</p>
<h2>Challenges and solutions</h2>
<p>The amount of available genomic information has grown rapidly in the past decade, mainly due to the falling cost and increasing efficiency of DNA sequencing technologies. </p>
<p>But DNA sequencing is still relatively expensive for large-scale studies. Africa lags behind other continents with such studies. This is mainly due to: </p>
<ul>
<li><p>a shortage of African scientists with genomic research expertise; </p></li>
<li><p>lack of biomedical research infrastructure; </p></li>
<li><p>limited computational expertise and resources; </p></li>
<li><p>lack of adequate support for biomedical research by African governments; and</p></li>
<li><p>the participation of many African scientists in collaborative research at no more than the level of <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138491/">sample collection</a>. </p></li>
</ul>
<p>Although scientists on the continent are unable to match the scale of research produced on other continents, they are continuously attempting large-scale genome-sequencing studies focused on specific diseases. </p>
<p>The <a href="http://h3africa.org/">H3Africa project</a>, funded by the <a href="https://www.nih.gov">National Institutes of Health</a> and the Wellcome Trust, supports several studies involving collaborative centres on the continent.</p>
<p>In addition, ongoing genomic projects in Africa are both establishing infrastructure for genomic research and training local researchers, as well as generating genomic datasets. </p>
<p>Many of these projects have made capacity building one of their core missions. This will in the long run build a critical mass of highly skilled individuals in the field shaping the future of genomic studies in Africa.</p><img src="https://counter.theconversation.com/content/58962/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Nicholas N Ngomi does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Genomic research must take place in Africa because African populations have evolved significantly and their genetic composition is more diverse than that of populations elsewhere.Nicholas N Ngomi, Research officer, African Population and Health Research CenterLicensed as Creative Commons – attribution, no derivatives.