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GENOMICS AND GENETICS
What role do your genes play in most common diseases? Find out how far these fields have gone
GENÓMICA Y GENÉTICA ¿Qué papel juegan los genes en el desarrollo de ciertas enfermedades? Entérese hasta donde han llegado estos campos
Salud y Familia
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New England’s bilingual health magazine
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April / June 2010
April / June 2010
Salud y Familia | 3
Mental
Health
IN THIS ISSUE… EN ESTA EDICIÓN... •Mental Health / Salud Mental Genes Are Not Destiny / Los Genes No Determinan Su Destino
P4-P6 --------------------------------------------------------------------------• Healthy Stories Fast Machines, Genes and the Future of Medicine
P8-P10 --------------------------------------------------------------------------• Life Style / Estilo de Vida The Genomics / Genetics of Type 2 Diabetes La Genómica/Genética de la Diabetes Tipo 2 P11-P13 --------------------------------------------------------------------------• Latest Health News The Genomic Map of Two Dozen Cancers P14
Editor Marcela García mgarcia@healthandfamilymagazine.com (617) 937-5921 Partners Massachusetts General Hospital Centers for Disease Control and Prevention Children’s Hospital Boston Dana-Farber Cancer Institute Contributors Daniel Gebremedhin, M.D. Charmain F. Jackman, Ph.D. Graphic Design Jhosmer Hernández Health & Family is Published By El Planeta Publishing A Phoenix Media/ Communications Group Company Sales Manager Raúl Medina raulm@healthandfamilymagazine.com (617) 937-5919 Account Managers Gary Golden John Miro Daisy Novoa Subscriptions (617) 937-5900 EL PLANETA PUBLISHING 126 Brookline Avenue Boston, MA 02215 Phone: (617) 937-5900 Fax: (617) 933-7677 www.healthandfamilymagazine.com
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Genes Are Not Destiny: Promote Your Family’s Mental Health • Dr. Charmain F. Jackman* As parents, we have many hopes and dreams for our children – maybe we imagine that they will excel in sports or the arts, or win scholarships for their academics, or just be successful. We also hope to pass on our talents to them so that they can become the best they can be. But there may be parts of our genetic history that we wish we could stop from passing on because of the difficulty that our children may experience in childhood or as adults. There are some genetic illnesses such as Sickle-cell Anemia, high blood pressure, heart disease, or cancer, that there is little we can do to stop from transmitting to the next generation. Mental health disorders impact an estimated 57.7 million (26.2%) people 18 and older each year, according to the National Institute of Mental Health. However, there are no genetic tests that can determine whether a child will develop a mental illness, but knowing your family history can help. Additionally, having a family history does not guarantee that the disorder will develop – environmental and developmental factors can influence whether the disorder develops or remains dormant. Research has shown strong genetic links in a number of psychological disorders (see table) among first-degree relatives (i.e., parents, offspring, and siblings): Mood Disorders, which include the following: -Depression includes symptoms such as sad or angry mood, low energy, low selfesteem, and trouble with sleep. In childhood, it tends to occur equally in boys and girls, but in adolescence, tends to occur more frequently in females. It affects 14.8 million (6.7%) adults each year. -Bipolar Disorder is a combination of depression and manic behaviors such as being extremely energetic, talkative, having little need for sleep, and inflated selfesteem. It typically starts in adulthood, and affects about 5.7 million (2.6%) adults each year. Schizophrenia: includes symptoms of paranoia, hallucinations, disorganized speech, and bizarre behavior and impacts 2.4 million (1.1%) people 18 years and older in a given year. Early signs usually begin in adolescence or early adulthood.
Mental Health Disorder
Rate in 1st-degree relatives compared to the general population
Major Depression Bipolar Schizophrenia ADHD Alcoholism Panic Disorder
1.5 to 3 times* 4-24% in family members* 10 times* 76% to 82% in twins** 3 to 4 times* 4 to 7 times*
*Compiled from DSM-IV . ** Sharp, S., McQuillin, A., & Gurling, H. (2009). Genetics of Attention-Deficit Hyperactivity Disorder (ADHD). Neuropharmacology, 57, 590-600.
Attention-Deficit/Hyperactivity Disorder (ADHD): One of the most common mental health disorders in childhood is marked by fidgety behavior, impulsivity, and inattention. These behaviors present early in childhood, usually before age 7, and occur more frequently in boys. The Center for Disease Control (CDC) estimates that 3% to 7% of school-aged children are diagnosed with ADHD. Alcohol Dependence or Alcoholism: includes symptoms of tolerance (increased use to obtain intoxication), cravings, physical dependence, and uncontrolled drinking. The National Institute of Alcohol Abuse and Alcoholism (NIAAA) suggests that there are 10.8 million underage drinkers. Also, children of alcoholic parents are four times more likely to develop alcohol problems. Anxiety Disorders: as a whole impact 40 million (18.1%) adults and include: - Specific phobias: intense, irrational fears of something that poses little or no actual danger. Common phobias include fear of heights, flying, and dogs. They can start in childhood and continue into adulthood and are twice as common in women.1 - OCD: characterized by recurrent, unwanted thoughts (obsessions) and/or repetitive behaviors (compulsions). For example, children may have fears of germs or preoccupation with order; and they may engage in rituals such as handwashing. OCD can start in childhood, but is typically diagnosed in late teens and affects 1% to 3% of children. - Panic disorder is marked by unexpected and repeated episodes of intense fear accompanied by physical symptoms such as chest pain, heart palpitations, shortness of breath, dizziness, or abdominal pain. It
usually develops in late adolescence and is twice as common in women. However, there are a number of factors that impact whether a child will develop a disorder: - A child’s temperament: whether he/ she is easy-going, difficult, reserved, or clingy can impact the course and severity of the disorder. - Parental mental health: children of parents with untreated mental illness are more likely to develop emotional problems in childhood and adolescence. - Parenting style: a consistent parenting approach with structure, routines, and limits has been shown to promote positive childhood outcomes. STRATEGIES FOR PROMOTING YOUR CHILD’S MENTAL HEALTH - Explore your family history: early detection can lead to prevention. - Talk to your child’s teachers: early signs of problematic behaviors are often seen at school. - Practice healthy parenting approaches: provide structure and ageappropriate discipline. - Provide children with good nutrition and opportunities for physical activity. - Take notice of changes in your child’s behavior and talk to your child’s pediatrician if you have concerns. If your child develops a disorder, there are many treatments available to help them including behavior management, individual therapy, family therapy, and even medications. *Dr. Jackman is a Child Psychologist at Children’s Hospital Boston. She also has a private practice in Watertown. Her e-mail is cjackman@inpsychonline.com. April / June 2010
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April / June 2010
Salud y Familia | 5
Salud
Mental
Los Genes no Determinan su Destino Como padres, siempre queremos lo mejor para nuestros hijos: quizás llegarán a ser estrellas del deporte o de las artes, o triunfarán académicamente. También esperamos pasarles nuestros talentos para que puedan llegar a ser lo mejor que puedan ser. Sin embargo, hay partes de nuestra historia genética que desearíamos poder evitar transmitirles. Hay algunas enfermedades genéticas, tales como la anemia de células falciformes, la alta presión, enfermedades cardiacas, o el cáncer, que no podemos evitar pasar a la siguiente generación. Los desordenes mentales impactan a aproximadamente 57.7 millones (26.2%) de personas mayores de 18 años cada año, de acuerdo al Instituto Nacional de Salud Mental. Sin embargo, no hay pruebas genéticas que puedan determinar si un niño puede desarrollar una enfermedad mental, pero el conocer su historia familiar puede ser de ayuda. Adicionalmente, el conocer el
6 | Salud y Familia
historial familiar no garantiza que el desorden se desarrollará, entre ellos: El temperamento de un niño: ya sea si él o ella es extrovertido, difícil, reservado, etc., puede impactar el curso y severidad de un trastorno mental. La salud mental de los padres: los hijos de padres con enfermedades mentales que no han sido diagnosticadas o tratadas, tienen una mayor probabilidad de desarrollar problemas emocionales en la infancia y en la adolescencia. Estilo de crianza: se ha comprobado que un enfoque de crianza de niños consistente con una estructura, rutina y límites promueve resultados positivos en los hijos. Por otro lado, las investigaciones han mostrado los fuertes lazos genéticos en una variedad de trastornos psicológicos (ver Tabla 1) entre parientes de 1er grado (es decir, padres, hijos o hermanos). Algunas estrategias para pro-
Desorden Mental
Tasa de incidencia en parientes de 1er grado comparado con el resto de la población
Trastorno Depresivo Mayor Trastorno Bipolar Esquizofrenia TDAH*** Alcoholismo Trastorno de Pánico
De 1.5 a 3 veces* 4-24% en miembros de la misma familia* 10 veces* De 76% a 82% en gemelos** De 3 a 4 veces* De 4 a 7 veces*
*Compliado de DSM-IV ** Sharp, S., McQuillin, A., & Gurling, H. (2009). “Genetics of Attention-Deficit Hyperactivity Disorder (ADHD).” Neuropharmacology, 57, 590-600. *** Trastorno por Déficit de Atención con Hiperactividad.
mover la salud mental de sus hijos: Explore su historial familiar: la detección temprana lleva a la prevención. Converse con los maestros de sus hijos: muchas veces se pueden observar señales tempranas de comportamientos problemáticos en la escuela. Practique enfoques saludables en la crianza de sus hijos: • provéales de una estructura disci-
plinaria apropiada a sus edades. • Ofrezca a sus hijos una buena nutrición y oportunidades de actividad física. • Note cambios en el comportamiento de sus hijos y coméntelos con el pediatra. Si su hijo desarrolla algún trastorno, hay una variedad de tratamientos disponibles para ayudarlo, incluyendo manejo del comportamiento, terapia individual, terapia familiar, y hasta medicamentos.
April / June 2010
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Salud y Familia | 7
Healthy
Stories
Fast Machines, Genes and the Future of Medicine Francis Collins, who helped map the human genome, did not get around to having his own genes analyzed until last summer. And he was surprised by what he learned. Collins has a predisposition for Type 2 Diabetes, something he had never suspected. The lanky, former director of the National Human Genome Research Institute (NHGRI) discovered this through tests offered by Navigenics, 23andMe and DecodeMe – companies that charge customers a few hundred dollars for a peek at their genetic makeup. “I signed up for all three because I wanted to see if they gave the same answer,” he said. “They all agreed my Diabetes risk is higher.” Armed with that information, he eventually lost 25 pounds. But as a rule, he doesn’t consider such tests especially useful – at least not yet. “Admittedly, right now your family history may be your best bet and it doesn’t cost anything,” he said. And so it goes in the fledgling genome field. Some experts say the world is on the cusp of a “golden age” of genomics, when a look at the DNA code will reveal your risk of cancer, diabetes or heart disease, and predict which drugs will work for you. Yet the $3 billion international Human Genome Project, whose first phase was completed a decade ago, has not led to a single blockbuster diagnosis or product. To be sure, there have been some tantalizing glimpses: - A personalized blood test can tell whether a patient’s cancer has spread or come back. Dr. Bert Vogelstein of Johns Hopkins University in Baltimore and colleagues found stretches of DNA in colon and breast tumors with extra DNA copies, or fused-together chromosomes. - A gene-based test called Oncotype DX made by Genomic Health Inc helps identify breast cancer patients who are not likely to benefit at all from chemotherapy. - Dr. James Lupski of the Baylor College of Medicine in Houston studied his own entire DNA map and sequenced the genomes of family members – including his deceased grandfather – to diagnose the mutation causing his rare genetic nerve disease, called Charcot-Marie8 | Salud y Familia
Jane Ades / NHGRI
• Reuters
Tooth syndrome. - Genetic tests are now able to pick out poor responders to Plavix, or clopidogrel, a common life-saving anticlotting drug made by Sanofi-Aventis SA and BristolMyers Squibb Co. Still, Collins describes this as lowhanging fruit. He says the hard work is only just beginning. In a sense, the field is a victim of its own success. Companies are beating down the price of genetic sequencing, competing to make the machine that every biotech lab will have as standard equipment to sequence a person’s entire genome on the spot. But all this genome sequencing is creating what current NHGRI director Dr. Eric Green calls a “tsunami of information” that is overloading the brains of scientists and the capacity of computers. Paradoxically, this reflects the fact that people have relatively few actual genes, the stretches of DNA that instruct a cell to make a protein, or what Green refers to as “bricks and mortar.” Humans have just 20,500 of them, compared with up to 30,000 for mice and 50,000 in rice. That was one of the big surprises from the Human Genome Project. As a result, much of the most important information lies in what used to be called “junk DNA,” which makes up twothirds of the human genetic code. “There is this dark matter of the genome that is lurking out there, waiting to
be uncovered,” says Collins. PUT IT IN THE BIOBANK One part of the hunt starts in a nondescript building in west London, where volunteers line up to reveal their innermost secrets. While many have given blood before, this time they are donating their DNA and medical records, both past and future, to a vast experiment that will track them to the grave. It sounds Orwellian. Yet volunteers checking into UK Biobank – backed by the government and the Wellcome Trust – are keen to participate in something that might help their children or grandchildren. This age group, 40 to 69 years, has been chosen because the volunteers won’t keep researchers waiting too long before developing interesting conditions such as cancer, arthritis, diabetes, heart disease and dementia. So far some 450,000 Britons have signed up, consenting to have their DNA sequenced and their health tracked, anonymously, through the National Health Service. Principal investigator Dr. Rory Collins says it is only by doing such largescale sampling that scientists can uncover how lifestyle factors interact with a long list of rare genetic variants to cause common diseases. “If you are looking for the effect of lots and lots of different genetic variants that are producing modest effects and
they’re interacting with a lot of non-genetic factors, then you need to be able to do studies that are very, very big,” he said. “It’s only just now that the technology allows those experiments to be done.” China, Sweden and other countries have also set up biobanks but the British one is the most comprehensive in terms of the number of factors studied. Organizers hope it will go beyond what earlier biobanks produced – like one in Iceland that helped create gene-hunting firm Decode Genetics. Working out of a glass-and-steel building on the outskirts of Reykjavik, Decode’s scientists have peppered the scientific literature with reports on common DNA variants linked to schizophrenia, cancer and other diseases by trawling the country’s genetic heritage, which has changed little since the Vikings arrived more than 1,000 years ago. Understanding a few of the pieces of the gene puzzle, however, was not enough to shore up Decode’s ailing business and the former Nasdaq-listed company filed for bankruptcy protection last November. It re-emerged as a private business in January. Decode was one of a number of biotech start-ups that rode the first wave of genomics, offering the technological tools needed to understand the links between genes and diseases. Many fell by the wayside after just a couple of years – but not all. Human Genome Sciences Inc is one that finally looks set for prime time. Its shares have skyrocketed since last year, when it reported unexpectedly strong data from a trial of its experimental lupus drug Benlysta. Last March the company was trading as low as 45 cents; now its shares hover around $30. If approved, the drug, which is being developed in partnership with GlaxoSmithKline Plc, would be the first new treatment for lupus, a serious immune system disease, in more than 50 years. But such winners are rare and investors remain wary of biotech drug developers over-selling the promise of genomics, given the fact that new medicines face a risky, 10 to 15-year path to market. In fact, the past decade has turned out to be the worst in the history of the April / June 2010
Healthy drugs industry, with a dearth of new medicines and an unprecedented cliff of patent expiries. “People have felt that they got their fingers burned,” said Glaxo’s head of genetics Lon Cardon. The problem for drug developers and investors is that greater knowledge has brought with it greater complexity, frustrating early hopes for relatively simple fixes to complex diseases. Yet Cardon, too, now sees a turning point, driven by cheaper, faster sequencing and clear advances in one key disease area – cancer. GENES AND CANCER For many cancer patients, a major fear is that their surgeon missed something and their cancer will grow back. The only way to tell now is to wait until tumors are big enough to be spotted by imaging machines. That could soon change. A genebased test that can search a patient’s blood for tiny bits of DNA shed from tumors may soon give doctors an early warning that they may have missed something. “That’s only become possible through the advent of so-called next-generation sequencing technology,” said Dr. Bert Vogelstein of
April / June 2010
Johns Hopkins University in Baltimore and the Howard Hughes Medical Institute, who is developing the blood test. The test takes advantage of rapid advances in the technology to sequence whole genomes. The latest machines from companies like Illumina Inc and Life Technologies Corp can map out a patient’s whole DNA code in just a few weeks for as little as $5,000, a far cry from 13 years and $3 billion it took Collins and his international collaborators to get the first human genome. Vogelstein said the rapidly falling cost of genome sequencing means the blood test could be affordable enough to be on the market within two years. Before long, all cancer patients could have their tumors sequenced routinely to find the genetic defects that cause them to grow. “Cancer is maybe the best disease to cut our teeth on,” said Yale Medical School geneticist Richard Lifton. “The reason for that is we know that cancer is largely a disease in changes of DNA sequence.” Matthew Meyerson of the DanaFarber Cancer Institute and the Broad Institute of Harvard and the Massachusetts Institute of Technology said he is impressed by the pace of change.
“The first cancer gene sequence was reported in 2008. There were probably 100 done last year. Maybe there will be many hundreds or even 1,000 this year,” he said. Lifton predicts that within the next two years, scientists will have the genetic sequence of every major human cancer. “Many of these will identify new genes that we had not previously known about with a role in cancer,” he said. “Some of these will turn out to be incredibly important new drug targets.” Or new tests, as Collins suggests. “If you’ve just discovered the molecular basis of a rare disease, you can turn it into a [test],” he said. A new industry is just emerging to help them get there. SHRINKING TECHNOLOGY Dr. Eric Green had never seen anything like it. At a meeting of what he calls “sequencing geeks” at Marco Island, Florida in February a small start-up called Ion Torrent was demonstrating its new DNA sequencer. “It’s the size of a computer printer,” he said. “They were sequencing in a hotel room.”
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It was a shock to researchers who had used rooms the size of a football field full of sequencers for the original human genome. Green said his institute has directed some funding to Guilford, Connecticut, and San Francisco based Ion Torrent for its $50,000 sequencer. “This may completely crash and burn,” he acknowledged. But he and others were intrigued at the company’s compact system to detect individual molecules of hydrogen as a way to sequence the A, C, T, G code of DNA. In another room was Pacific Biosystems’ $750,000 sequencer the size of a conference table. “It is the Wild West,” Green said. “It is emblematic of what is going on in the field now, with not one, not two, not three, not four but multiple technologies.” They are doing what the companies and the researchers want, and prices are plummeting. “There is a mix of science and business here,” said Green. “It’s breathtaking, what is happening.” If human genome sequencing is to transform medicine, it will have to be quick and easy to do. “One could imagine that acquiring a complete genome se-
Salud y Familia | 9
Healthy
Stories
quence of an individual might become the standard of care one day,” Green said. “What these companies are doing is giving us a taste of the future of medicine.” Dr. Richard Gibbs, who directs the Human Genome Sequencing Center at Baylor College of Medicine in Houston, said there are about 20 to 30 different sequencing companies out there that are trying new things. He said scientists had expected to have to wait for these machines to produce real breakthroughs, but the ones by Illumina and Life Technologies are cranking out so much data and the price is falling so quickly that they are likely to be the ones that transform medicine. “The current things are performing so damn well they are blowing out of the water the pie-in-the-sky numbers that were pushed around by the next nextgeneration companies,” Gibbs said. Illumina’s Chief Executive Jay Flatley said storing and analyzing the trillions of bits of data generated by their machines will likely be the biggest future stumbling block for sequencing companies. Collins is confident they can do it. “We are not going to hit any limits any
time soon,” he said. “No laws of physics need to be broken... We’ll have the $1,000 genome in a few years. It will [eventually] be possible for people to make a $100 genome.” The high expense is not stopping China, which is making a big push into genomics. The Beijing Genomics Institute just bought 128 Illumina machines and is employing 1,000 researchers to focus on illnesses that are specific to Asian populations. AstraZeneca Plc’s lung cancer pill Iressa, or gefitinib, was found to work far A snapshot of www.decodeme.com, which offers DNA testing and genetic mapping better than chemotherapy in people from East Asia whose tumors had specific mu- rush out to have their DNA tested by com- consultant in clinical genetics. Collins agrees. After all, the leading tations in genes for the epidermal growth panies such as 23andMe and DecodeMe. “I’d hesitate to call them a scam,” causes of death in the developed world factor receptor or EGFR. The discovery saved the drug, which only works in said Frances Flinter, a member of Brit- – cancer, heart disease, stroke, diabetes about 10 to 15 percent of lung cancer pa- ain’s Human Genetics Commission which – can be prevented to a large degree with tients in Europe and which was headed is coordinating a global working group on exercise, by avoiding tobacco and by eatthe new guidelines. “Some of the compa- ing less fat and sugar. for the trash bin. Then again, he had no family history “Most genomics research has been nies offering these tests are trying very done on Caucasians based in Europe or hard to develop something that has some of diabetes. “Everybody in my family is lean and the United States and we are only just scientific validity. But at the moment the starting to understand about how ap- scientific knowledge doesn’t exist to dem- athletic,” he said. “I wasn’t looking that lean and athletic when I got these test plicable these findings are to... Asian onstrate they are useful.” “For the vast majority of people, de- results last summer, and it caused me populations,” said Martin Hibberd of the cisions on lifestyle will probably have far to pay attention to something I should Genome Institute of Singapore. None of this means people should more impact on health,” said Flinter, a have paid attention to all along.”
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The Genomics/Genetics of Type 2 Diabetes • Dr. Daniel Gebremedhin*
WHAT IS DIABETES? Diabetes is a disorder of having too much sugar in your blood. When you eat food, your digestive system breaks food down into simple molecules that the body can use for energy. These simple molecules are fats, proteins, and sugars. These molecules travel from your digestive tract into your blood in order to get to their final destination. The levels of these molecules must be regulat-
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When compared to the general population, Hispanics are more likely to develop Diabetes and not know about their diagnosis. Diabetes is the sixth leading cause of death among Hispanics in the United States and the fourth leading cause of death among Hispanic women and the elderly. It is estimated that 10% of all Hispanic Americans over the age of 20 have Diabetes.
ed because high circulating levels will cause damage to the body’s tissues. The organ that regulates the lev-
el of sugar in the blood is called the pancreas. The pancreas regulates the sugar level with its hormone, insulin.
Diabetes can occur anytime when the regulation of blood sugar malfunctions. This resulting disease state leads to abnormally high blood sugar levels. The system can break down due to one of two major reasons. First, if the pancreas is destroyed, it can no longer make insulin. Without insulin, you cannot control the level of blood sugar, leading to Diabetes. This state, where the pancreas is destroyed, is called Type 1 Diabetes. The second way that the system can break down is when the body can no longer use the insulin effectively. Although the pancreas continues to make insulin, the body slowly becomes resistant to the hormone, and requires more and more of it to get the same effect that it used to. This second form of Diabetes is called Type 2 Diabetes, and it is the most common cause of Diabetes in the world. Continúa en la pág. 12
CAMINOS HACIA LA SALUD LA VIDA DESPUES DEL CANCER DE SENO
¿Es usted una sobreviviente del cáncer de seno? Si es así, este video educativo es para usted. Escuche a expertos en el área de sobrevivencia discutir temas tales como la salud física, el bienestar emocional y la sexualidad después de haber terminado el tratamiento. Usted también podrá escuchar testimonios de sobrevivientes y obtener ideas sobre como mejorar su calidad de vida. Un video educativo dirigido por Verónica Sánchez Varela, PhD, con el apoyo de la Fundación Susan G. Komen for the Cure Massachusetts Affiliate
Para obtener una copia gratis llame al 617-632-5021 April / June 2010
Salud y Familia | 11
Life
Style
PREVENTION AND PRE-DIABETES Because the second form of Diabetes tends to occur later in life, usually after the age of 40, it is thought that lifestyle can play a role in the development of this disease. Lifestyle refers to diet (the foods you eat) and activity level (frequency of exercise). If you constantly eat foods that are high in carbohydrates and saturated fats, you will force your pancreas to make large amounts of insulin. After several years of seeing very high insulin levels, your body gets used to these high levels and then begins to require higher and higher levels of insulin to get the same effect. Thus, by decreasing your intake of carbohydrates and saturated fats, you decrease the amount of work that your pancreas must do by requiring less insulin. When the body exercises, it demands more energy, and thus requires less insulin to get sugar out of the blood, lowering your blood sugar in the process. In this way, exercise and a proper diet make it easier for the pancreas to do its job. If you are at risk for Type 2 Diabetes, optimizing your lifestyle can pre-
vent diabetes from occurring. Because prevention is possible, physicians are now screening people who are at high risk for Type 2 Diabetes. Physicians have now created a class of people who have not yet acquired Type 2 Diabetes, but are on the verge of acquiring the disease. This group is classified as having Pre-Diabetes. This means that your body is becoming resistant to insulin or your pancreas is not making as much insulin as it used to. In these patients, your blood sugar levels are higher than a normal person, but are not as high as patient with Diabetes. If patients with pre-Diabetes do not take action to change their life, they will ultimately acquire Diabetes. THE GENETICS OF TYPE 2 DIABETES Type 2 Diabetes has been found to have a stronger genetic basis than type 1. Up until recently, it was thought that people acquired type 2 Diabetes from poor diet and a lack of exercise alone. Now, multiple genomics studies have found a number of genes that make it much more likely for a person to get type 2 Diabetes. Because these genes are inherited in families, if you have
family members that have type 2 Diabetes, then it is likely that you may be at risk for Diabetes. When looking at populations, Hispanic Americans, African Americans, and Native Americans have the highest risks of contracting Diabetes. Genetic evidence also confirms that these ethnicities have a higher frequency of genes that make a person susceptible to Diabetes. If you mix this genetic predisposition, with the typical, unhealthy American lifestyle of no exercise, high fat, and high carbohydrate diets, you have the recipe for Diabetes. In general, if you have type 2 diabetes, the likelihood of your child getting diabetes can be as high as 40%. If both parents have Type 2 Diabetes, the chance of passing it on to the child can be as high as 70%. The same statistics are true for you if either one or both of your parents had Diabetes. SEQUENCING THE HUMAN GENOME FOR TYPE 2 DIABETES Scientists now have the capability to read the genetic material (DNA) of every human being using a few simple techniques. Researchers have used this
ability to compare the DNA of patients with Diabetes with the DNA of patients without Diabetes. Researchers then determine that the difference in genes found between these two groups may play a role in causing Diabetes. This allows researchers to not only find the genes that cause Diabetes, but also look for possible treatments for the disease. Scientists are working hard to find these novel genes, determine their function and how they play a role in causing the disease of Diabetes. Although this field of gene discovery is still immature, it has the potential to provide major breakthroughs in Diabetes therapy. Hopefully this information has taught you more about the disease of Diabetes. Knowledge is power because Diabetes is preventable and treatable. It is important to get screened if you are at risk and to begin a treatment plan with a doctor if you already have Diabetes. You owe it to yourself and your loved ones. Dr. Daniel Gebremedhin, M.D., practices Internal Medicine at Massachusetts General Hospital
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Estilo de
Vida
La Genómica/Genética de la Diabetes Tipo 2 Comparado con la población general, los hispanos tienen mayor probabilidad de desarrollar Diabetes sin saberlo. La Diabetes es la sexta causa de muerte entre latinos en los Estados Unidos, y la cuarta entre las mujeres hispanas y personas de la tercera edad. Se estima que el 10% de los hispanoamericanos mayores de 20 años tienen Diabetes. La Diabetes es el exceso de azúcar en la sangre. Cuando se ingiere comida, el sistema digestivo divide los alimentos en moléculas que el cuerpo pueda usar para energía. Estas simples moléculas son grasas, proteínas y azúcares, y viajan desde el tracto digestivo hasta la sangre para llegar a su destino final. Los niveles de todas estas moléculas tienen que estar regulados pues un alto nivel de ellas causará daño a los tejidos corporales. El órgano que regula el nivel de azúcar en la sangre es el páncreas,
usando la hormona llamada insulina. La Diabetes ocurre cuando la regulación de azúcar en la sangre no funciona, y esto sucede por dos razones: si el páncreas está destruido, ya no puede producir insulina. Este estado es lo que se conoce como la Diabetes Tipo 1. La segunda razón es cuando el cuerpo no puede usar la insulina efectivamente. Aunque el páncreas continúa produciendo insulina, el cuerpo lentamente se hace resistente a la misma, y requiere más y más de ella para obtener el mismo efecto. Este tipo de Diabetes es el 2, y el más común. Debido a que la Diabetes Tipo 2 tiende a ocurrir alrededor de los 40 años, se cree que el estilo de vida juega un importante rol en el desarrollo de la enfermedad. El estilo de vida se refiere a la dieta y el nivel de actividad física. Si constantemente se ingieren comidas que son altas en carbohidratos y gra-
sas saturadas, se obligará al páncreas a producir grandes cantidades de insulina. Después de ver altos niveles de insulina, el cuerpo se acostumbra a esos niveles y comienza a requerir más y más insulina para obtener el mismo efecto. En cuanto a la genética de la Diabetes, se ha comprobado que el Tipo 2 tiene una base genética más fuerte que el Tipo 1. Hasta hace poco se pensaba que las personas adquirían la Diabetes Tipo 2 solamente por una mala dieta y falta de ejercicio. Ahora, múltiples estudios genómicos han podido determinar una variedad de genes que hacen que una persona tenga mayores probabilidades de obtener Diabetes Tipo 2. La evidencia genética también confirma que los hispanoamericanos, afroamericanos y nativo-americanos tienen los mayores riesgos de contraer Diabetes. En general, si usted padece de Diabetes Tipo 2, la probabilidad de
que sus hijos tengan Diabetes puede llegar a ser del 40%. Si ambos padres tienen Diabetes Tipo 2, ese número se eleva hasta el 70%. Ahora, los científicos ya tienen la capacidad de leer el material genético (ADN) de cada ser humano usando técnicas simples. Los investigadores han podido comprar el ADN de pacientes diabéticos con el ADN de pacientes sin la enfermedad, y se ha podido determinar la diferencia en genes encontrados entre estos grupos. Esto les ha permitido no solamente encontrar los genes exactos que causan la Diabetes, sino también buscar posibles tratamientos para curar la enfermedad. Aunque este campo todavía está muy joven, tiene el potencial de lograr grandes avances en la terapia para combatir la Diabetes. Es importante hacerse chequeos médicos si usted está en riesgo.
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Latest Health News
Researchers chart genomic map of several cancers • Dana-Farber Cancer Institute An international team of researchers created a genome-scale map of 26 different cancers, revealing more than 100 genomic sites where DNA from tumors is either missing or abnormally duplicated compared to normal tissues. The study, the largest of its kind, finds that most of these genetic abnormalities are not unique to one form of cancer, but are shared across multiple cancers. The work appeared in the February 18 issue of the journal Nature. “Our findings show that many genome alterations are universal across different cancers. Although this has been known for some types of changes, the degree to which so many alterations are shared was pretty surprising to us,â€? said senior author Matthew Meyerson, a professor of pathology at the DanaFarber Cancer Institute and senior asso-
ciate member of the Broad Institute of Harvard and MIT. Today, cancers are characterized largely by their symptoms: the organ in the body in which they first arise and the appearance of tumor cells under a microscope. Although this information is valuable, it fails to highlight cancers’ molecular underpinnings, which could be used in the laboratory to discover new, more effective cancer therapies and in the clinic to improve diagnosis and treatment. A goal of modern biomedical research is to fill this knowledge gap and describe all cancers based on what drives them — that is, the genetic aberrations that initiate and maintain tumor growth. In 2004, a scientific team led by researchers at Dana-Farber and the Broad Institute launched a project to systematically map the genetic changes
across different cancers. They focused on a particular type of DNA change in which segments of a tumor’s genome are present in abnormal copies. Instead of the usual two copies, tumors often carry several copies of one piece of DNA (an “amplification�), or may lack it altogether (a “deletion�). These genetic abnormalities are known as somatic copy-number alterations or SCNAs. Like other types of DNA mutations that litter the genomes of tumor cells, most SCNAs do not necessarily play a meaningful role in cancer growth. But the ones that do serve as important signposts. As the foundation for their analysis, the scientists collected over 2,500 cancer specimens representing more than two dozen cancer types, including lung, prostate, breast, ovarian, colon, esophageal,
liver, brain, and blood cancers. This analysis helped shed light on two genes, MCL1 and BCL2L1. Cancer cells with amplifications of these genes appear to rely on the genes’ activity for survival, suggesting important roles in maintaining tumor growth. Perhaps most importantly, looking across the data for the various cancers, it became clear that most focal SCNAs are not unique to just one type of cancer, but are shared among multiple tumor types. That suggests the genetic mechanisms that underlie these tumors are shared among them, and could someday lead to common strategies for treating them. “With the ongoing revolution in genome technology, it will become possible to decode the genomes of thousands of cancers to reveal every genomic change,� said Meyerson.
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