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Archive for January, 2016

MAA Board Meeting

Thursday, January 28th, 2016

January 28, 2016, Atlanta, GA. For more information, visit Medical Association of Atlanta

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Children’s Healthcare of Atlanta to Lead National Sickle Cell Study

Tuesday, January 26th, 2016

Dr. KrishnamurtiThe sickle cell program at the Aflac Cancer & Blood Disorders Center of Children’s Healthcare of Atlanta has been named the lead coordinating center for a National Institute of Health study to determine the safety and effectiveness of bone marrow transplants compared to standard care therapies to cure sickle cell disease in young adult patients.

Dr. Lakshmanan Krishnamurti, director of the Blood and Marrow Transplant Program at Children’s, will lead the STRIDE study (Sickle Cell Transplant to Prevent Disease Exacerbation) with 26 institutions around the country. Dr. Krishnamurti developed the study hoping to bolster medicine’s support of BMTs for young adults, determining its safety and feasibility in treating sickle cell disease.

“Since the 1980’s, advances in research and technology have led to improved outcomes for children receiving bone marrow transplants,” said Dr. Krishnamurti. “With pediatric patients responding better than ever before, we want to study the long term effects of BMTs to determine whether they will be as effective in curing young adults of sickle cell disease.”

Dr. Krishnamurti was the first physician in the world to perform a reduced-intensity bone marrow transplant in a patient with sickle cell disease while at the University of Minnesota in 1999.

More than two decades ago, young patients with severe cases of sickle cell disease received bone marrow transplants (BMT) as researchers searched for a cure. The procedure came with high risks of negative effects and life-threatening complications at the time.

“It resulted in the research community abandoning the idea of transplants for young adults,” said Dr. Krishnamurti. “But today, with more refined procedures and better knowledge, transplants could be a viable option for young adults suffering from severe sickle cell disease.”

Sickle cell disease is estimated to affect up to 100,000 Americans. It is a hereditary blood disorder, which disproportionally affects African Americans and causes a host of acute and chronic conditions, including debilitating pain.

Success will be measured by patients’ “event-free” survival for at least a year. In addition, Dr. Krishnamurti hopes that the study could show how BMTs help reverse some of the damage caused by sickle cell disease in a patient’s organs.

More importantly, Dr. Krishnamurti says he hopes to see as much success with the young adults as he has with the children. “It’s very exciting to work with the young adult population on this. And this time, we might be able to offer a cure,” he said.

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Piedmont Atlanta Hospital Announces New CEO

Monday, January 25th, 2016

Patrick BatteyFollowing a year of leading as co-CEO, Patrick Battey, M.D., assumed the role as sole CEO of Piedmont Atlanta Hospital on Jan. 1, 2016.

Dr. Battey is the first physician to serve as CEO since Piedmont opened in 1905. Only 5 percent of hospitals in the United States are led by a physician, according to the American College of Physician Executives, which industry experts expect to change. This appointment acknowledges Piedmont’s heritage and adds to the growing number of hospitals that have physicians in CEO positions.

“We are entering a new era of medicine and will experience more healthcare change in the next three years than we’ve experienced in the past 25 years,” Dr. Battey said. “Practicing physicians need to be at the table as healthcare changes. Physicians can’t continue the same practices as they have in the past – now is the time for physicians and hospital leaders to listen, collaborate and lead.”

As a clinician involved in medical staff leadership throughout his career, Dr. Battey will help reinforce the hospital’s reputation for patient-centered care and sustain the hospital as an important health resource for the community, even as the health care landscape changes. Dr. Battey plans to approach his new role with an eye toward excellence in care and collaborate with all disciplines to ensure quality remains the top priority.

Prior to his role as co-CEO, Dr. Battey led Piedmont Healthcare as interim CEO when former CEO R. Timothy Stack passed away suddenly in 2012. Guiding the system during a time of transition – the system had just acquired its fifth and second-largest hospital – Dr. Battey demonstrated how his business skills and clinical background can help shape and redefine the system’s healthcare product.

“Dr. Battey brings more than credentials to the table,” said Kevin Brown, Piedmont Healthcare CEO. “For years, he has cared for our patients, forged meaningful relationships and served the community. His vision to provide patient-centered care that is anchored in quality reflects what we deliver every day at Piedmont.”

A vascular surgeon with Piedmont Heart Institute, Dr. Battey plans to continue his clinical practice in both the office and operating room on a scaled back schedule.

The Augusta native earned his medical degree from Emory University School of Medicine before completing his residency in general surgery and a fellowship in vascular surgery at Emory University affiliated hospitals. He is a Fellow with the American College of Surgeons, Society for Vascular Surgery and Atlanta Vascular Society.

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32nd Annual Atlanta Breast Surgery Symposium

Friday, January 22nd, 2016

January 22-24, 2016, Intercontinental Hotel Buckhead, Atlanta, GA. For more information, visit Southeastern Society of Plastic and Reconstructive Surgeons

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6th Annual Georgia Trauma Commission Strategic Planning Workshop

Thursday, January 21st, 2016

January 21-22, 2016, Macon, Ga. For more information, visit Georgia Trauma Commission

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NFMGMA Monthly Meeting-10 Mistakes We Keep Making as Practice Managers

Wednesday, January 20th, 2016

January 20, 2016, The Metropolitan Club, Alpharetta, GA. For more information, visit North Fulton MGMA

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Children’s Healthcare of Atlanta Chosen to Host International Trial

Tuesday, January 19th, 2016

The Aflac Cancer & Blood Disorders Center of Children’s Healthcare of Atlanta has been named a host institution for an international clinical trial analyzing the safety and effectiveness of an investigational cellular therapy treatment for children fighting cancer. The research is part of a collaborative international study sponsored by Novartis.

For decades, traditional treatments for cancer have included surgery, chemotherapy and radiation. But for those who have not responded to treatment through these methods, the international study offers a new investigational immunotherapy treatment that relies on a patient’s own immune system to potentially defeat cancer.

“We are optimistic about the potential of this therapy,” said Dr. Cynthia Wetmore, director of the Developmental Therapeutics Program at the Aflac Cancer and Blood Disorders Center of Children’s. “This is the next step in pediatric cancer research, and Children’s is playing a vital role in getting this to the kids who need it most.”

The process involves reprogramming a patient’s immune cells to recognize and attack cancer cells. The new CTL019 cells are created by removing the patients’ own T-cells and reprogramming them to target specific proteins on cancer cells. Millions of such CTL019 cells are grown before re-infusing them into the patient, where the cells aim to seek out and destroy the cancer.

This approach, referred to chimeric antigen receptor T-cell (or CAR-T) technology has yielded promising results in early stage trials, especially with pediatric patients with relapsed/refractory acute lymphoblastic leukemia (ALL) who had no other known curative treatment options. However, side effects, such as cytokine release syndrome, need to be carefully managed.

“Most of the patients in the study are therapy resistant and have no other traditional methods left to help them,” said Dr. Wetmore. “Immunotherapy is an exciting new investigational frontier in cancer treatment that is giving hope to many people.”

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Sports Cardiology & Women’s Heart Health

Sunday, January 17th, 2016

By Jonathan Kim, M.D.

Case #1: A 55-year-old female triathlete self-refers herself to your clinic complaining of exertional dyspnea on exertion. She has been a high-level recreational endurance athlete for the last 25 years, competing in 25 marathons and 8 Ironman triathlons. At baseline, she runs 40 miles per week when not training for competition. She states that for the last six to nine months, she feels excessively fatigued and more short of breath during her long runs. You are the third cardiologist she has seen. She brings previous records demonstrating a “normal” 2-D trans-thoracic echocardiogram and standard Bruce protocol exercise treadmill test. The stress test was stopped because she achieved maximum heart rate; she was asymptomatic at the time. She was told nothing was wrong with her because “you run marathons and run 50 miles per week”.

SportsCardiologyCase #2: An 18-year-old female soccer player is referred to your clinic for an “abnormal ECG” obtained during a pre-season sports physical. It shows an incomplete right bundle branch block and voltage criteria for left ventricular hypertrophy. She has no symptoms and a normal physical exam. The referring physician believes the athlete needs an echocardiogram.

These hypothetical cases are, in fact, descriptions of common referrals and self-referred patients seen in general cardiology clinics across the country. They are examples of why sports cardiology is becoming an integral and essential component of preventive cardiology. Without sports cardiology expertise and significant exposure to athletic patients, one may agree that the patient described in Case #1 is truly “fine.”

How could someone this fit have significant exertional dyspnea and fatigue? Didn’t she have a normal echo and stress test? For Case #2, it is not surprising there was concern about the presence of high voltage on the ECG. Who wants to miss a case of hypertrophic cardiomyopathy?

The story of Hank Gathers resonates with all physicians who care for athletes. Perhaps Case #2 requires more testing, and Case #1 is an example of wasted resources and too much testing. The answer is actually the exact opposite.

To start, however, it is important to first look at the tremendous rise in sports participation in the United States. Since the 1990s, the number of women and men who participate in recreational running events in the U.S. has skyrocketed, and now women sign up for long-distance road races more than men.1 In fact, it is estimated that in 2012 almost 9 million road race finishers in the U.S. were women.1 These striking trends indicate that female participation in these endurance exercise events will continue to rise over the coming years.

SportsCardiologySo why is there so much interest in recreational running? In part, people are well aware of the beneficial effects of exercise. It has long been established that exercise decreases cardiovascular morbidity and mortality.2 More exercise lowers blood pressure, improves cholesterol levels and decreases the overall cardiovascular risk profile. In addition, we know a graded exercise program is a significant part of the standard medical regimen post myocardial infarction and other cardiac surgeries and percutaneous procedures. But there is more to the story than just achieving cardiovascular health. Whether for charity, embracing the challenge, relief of stress or achieving personal milestones, people are signing up for these events in record numbers.

The “boom” in exercise participation has fueled the emergence of sports cardiology. Sports cardiology addresses cardiovascular issues for all those who place a high premium on exercise or athletic performance. From recognizing occult cardiovascular structural pathology in young athletes to evaluating the perceived loss of exercise tolerance in veteran endurance exercisers, the sports cardiologist must address, evaluate and manage these issues while taking into consideration the premium on athletic performance. With the proportion of women engaging in running events climbing at a record pace, it is critical that active women are aware this specialized medical and cardiac care exists.

The recognition that cardiovascular disease is the No. 1 cause of death in women highlights the need for better gender-specific preventive cardiovascular care and research. Unfortunately, as more women engage in strenuous exercise, women currently remain underrepresented within sports cardiology research. I would expect significant increases in the number of studies focused on female athletes over the coming years and substantial gains in our understanding of cardiovascular issues in female athletes.

SportsCardiologySpecific to running, there are several controversial issues regarding the effects of endurance exercise on the heart. The core of these issues centers on the hypothesis of a “dose-response” and exercise. Recent studies have suggested that long-term ultra endurance exercise may be linked to early plaque build-up in the coronary arteries and also the development of an “exercise-induced” right ventricular cardiomyopathy.3,4

It is important to emphasize that, to date, there are no definitive data implicating marathon running or ultra-endurance exercise as pathologic in the general population. There are data associating endurance exercise and the development of atrial fibrillation, but even these data lack formal insight into prognosis, additional risk factors and mechanisms.5 The data regarding endurance exercise and the development of an exercise-specific cardiomyopathy suggest this is extremely rare in occurrence and limited to a very small, at-risk portion of the ultra-endurance athletic population.

Exactly who is at risk is unknown and an important area of current research. The association between ultra-endurance exercise and accelerated coronary atherosclerosis remains inconclusive and based on weak and poorly controlled observational data. There is simply more we need to understand before any conclusions can be made. Moreover, there are studies that have demonstrated improved mortality in ultra-endurance athletes,6 the safety of marathon running7 and the beneficial effects on cardiovascular health from marathon training.8 Current advice for those concerned would be to consult a sports cardiologist before embarking on an ultra-endurance training regimen.

A second and more publicized controversy poses the question, should all competitive athletes be screened with a 12-lead ECG prior to sports participation? At the forefront of this controversy are highly visible, albeit rare, tragedies of sudden cardiac death on the playing field and data from Italy demonstrating a 90 percent reduction in athlete sudden cardiac death events through the use of a nationally mandated ECG screening program.9 Indeed, because of these data, Europe mandates the use of a pre-participation ECG, while the U.S. (American Heart Association) does not.10

SportsCardiologyAlthough it seems logical to implement this same requirement in the U.S., there are many valid issues with this proposed mandate. For one, there remains no definitive evidence that the addition of a pre-participation ECG reduces mortality compared to the current practice of only a pre-participation history and physical. However, recent data have also demonstrated higher-risk of sudden cardiac death in some U.S. collegiate athlete groups.11

At this point, this controversy remains far from resolved. For now, I believe there is a role for more in-depth pre-participation screening (utilizing ECG and/or echocardiography) in certain athlete groups if the infrastructure is in place to support this practice and the physicians, both internists and cardiologists, have the experience and expertise to adequately interpret the data obtained. Further, I believe ongoing research efforts designed to improve the interpretation of the athlete ECG are paramount and will continue to improve the specificity and false positive rates of the screening athlete ECG.

It is critical for all cardiologists and internists to educate our patients about the benefits of exercise, to not discourage strenuous exercise in those healthy enough and invested to do so, and to be aware of these current controversies within sports cardiology. For the sports cardiologist, we must be aware of the current limitations within sports cardiology research and recognize there is still much to understand. Because of this, we must be cautious of science that may garner headlines and critically analyze all new sports-specific research.

Going back to the initial cases: Case #1 illustrates the important point that symptoms experienced by even the most fit ultra-endurance athlete should not be ignored and that appropriate testing is critical to the evaluation and work-up of the endurance athlete. Although this triathlete had previous “normal” testing, the Bruce protocol is not adequate for an elite endurance athlete. Moreover, the functional capacity of this athlete was not assessed properly.

The more appropriate test of choice would have been a cardiopulmonary exercise test, using some sort of ramp exercise protocol in attempts to replicate the training conditions experienced by the athlete. From an echocardiographic standpoint, the use of speckle-tracking techniques may detect early forms of cardiomyopathy not readily evident using standard 2-D echocardiography. Thus, the work-up in Case #1 remains incomplete and inadequate.

Case #2 illustrates the importance of being familiar with normal athletic “training-related” ECG patterns. Voltage consistent with left ventricular hypertrophy, but without additional abnormal ECG findings (ex. left axis deviation, q-waves, ST-segment abnormalities, etc.), is completely normal in a young, competitive athlete. This young athlete did not require a cardiology referral and certainly does not require further testing.

This is an exciting time in the field of sports cardiology. The American College of Cardiology has endorsed exercise and sports cardiology as an important and growing field in cardiology.12 The sports cardiologist has an important role in the individualized medical care of all athletic patients. Research possibilities in sports cardiology are also endless in today’s climate, and it is essential we include female athletes in the design of new studies. As current research efforts provide evidence-based insight into the current controversies present in sports cardiology, it is paramount for the sports cardiologist to responsibly disseminate this knowledge to the general public.

  1. http://www.runningusa.org/statistics
  2. Pate RR, Pratt M, Blair SN, et al. Physical activity and public health. A recommendation from the Centers for Disease Control and Prevention and the American College of Sports Medicine. JAMA 1995;273:402-7.
  3. Möhlenkamp S, Lehmann N, Breuckmann F, et al. Running: the risk of coronary events : Prevalence and prognostic relevance of coronary atherosclerosis in marathon runners. Eur Heart J 2008;29:1903-10.
  4. La Gerche A, Burns AT, Mooney DJ, et al. Exercise-induced right ventricular dysfunction and structural remodelling in endurance athletes. Eur Heart J 2012;33:998-1006.
  5. Andersen K, Farahmand B, Ahlbom A, Held C, et al. Risk of arrhythmias in 52 755 long-distance cross-country skiers: a cohort study. Eur Heart J 2013;34:3624-31.
  6. Farahmand BY, Ahlbom A, Ekblom O, et al Mortality amongst participants in Vasaloppet: a classical long-distance ski race in Sweden. J Intern Med 2003;253:276-83.
  7. Kim JH, Malhotra R, Chiampas G, et al; Race Associated Cardiac Arrest Event Registry (RACER) Study Group. Cardiac arrest during long-distance running races. N Engl J Med 2012;366:130-40.
  8. Zilinski JL, Contursi ME, Isaacs SK, et al. Myocardial adaptations to recreational marathon training among middle-aged men. Circ Cardiovasc Imaging 2015;8:e002487.
  9. Corrado D, Basso C, Pavei A, et al. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006;296:1593-601.
  10. Maron BJ, Friedman RA, Kligfield P, et al. Assessment of the 12-lead ECG as a screening test for detection of cardiovascular disease in healthy general populations of young people (12-25 Years of Age): a scientific statement from the American Heart Association and the American College of Cardiology. Circulation 2014;130:1303-34.
  11. Harmon KG, Asif IM, Klossner D, et al. Incidence of sudden cardiac death in National Collegiate Athletic Association athletes. Circulation 2011;123:1594-600.
  12. Lawless CE, Olshansky B, Washington RL, et al Sports and exercise cardiology in the United States: cardiovascular specialists as members of the athlete healthcare team. J Am Coll Cardiol 2014;63:1461-72.

 

 

 

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Treatment of Genetic Diseases: The Future is Here

Friday, January 15th, 2016

Treatment of Genetic DiseasesBy William R. Wilcox, M.D., Ph.D.

General Principles

Treating genetic diseases is neither new nor unfamiliar: physicians treat common diseases with a heritable genetic component every day – including diabetes, hypertension, atherosclerosis, some forms of cancer, etc.

Specialists in medical genetics focus on the diagnosis and treatment of disorders that are predominantly due to the effects of a single dysfunctional gene (i.e. Mendelian with autosomal dominant, autosomal recessive or X-linked inheritance), mitochondrial DNA mutations (maternal inheritance) or are chromosomal in nature (such as Down syndrome).

The goals of treatment are to prevent morbidity and mortality and ensure better developmental outcomes through disease-specific therapies, symptomatic treatment and anticipatory guidance and surveillance. Our success in achieving these goals varies greatly depending on the given disorder.

In general, treatment outcomes are better the earlier a diagnosis can be made and require coordinated, multidisciplinary care and compliance with recommendations by the patient and family. Unfortunately, except for some disorders detected by newborn screening, a correct diagnosis is often delayed for many years or made post-mortem.

Current treatment for genetic disorders is usually lifelong. With few exceptions, treatments are not curative but only modify the course of the disease. For disorders with a pediatric onset, the lack of medical coverage for many adults often leads to a cessation of proper treatments, with disastrous and expensive consequences.

The number of specific therapies for genetic disorders is increasing, but there is a substantial lag between advances in the laboratory, clinical trials and approval by the FDA. In part, this is due to the relative rarity of the disorders, the lack of good natural history data, a paucity of surrogate markers for the efficacy of treatment, the expense of clinical trials for rare disorders and a regulatory structure that, in spite of the orphan drug pathway, is really designed for common diseases.

Fortunately, pharmaceutical companies are showing more interest in orphan diseases, and the regulatory framework is evolving due to the advocacy of patient organizations. A major problem in the future will be affordability of these treatments for any health system. In the absence of any pricing regulation, most treatments are extremely costly.

For best outcomes and quality of life, the healthcare team cannot forget the importance of symptomatic therapies (e.g. occupational, physical and speech therapies, pain control, gastrostomy tubes for feeding, etc.), anticipatory guidance and surveillance for complications of the disorder (e.g. hypothyroidism, strabismus and hearing loss in Down syndrome; hepatic tumors in tyrosinemia), and treatment of diseases unrelated to the primary genetic diagnosis (e.g. obesity and hypertension in a dwarf).

The specific ways we treat genetic disorders include decreasing the amount of toxins; increasing the amount of functional protein; providing what is lacking; and modifying the disease pathogenesis. Gene therapy can theoretically result in a permanent cure, but that has been difficult to successfully accomplish. While there have been some promising clinical trials and a few regulatory approvals in other countries, no gene therapy is currently approved by the FDA.

Specific Treatments

1. Decrease the amount of toxins: Many disorders of intermediary metabolism cause an increase in toxic metabolites that can increase further during intercurrent illnesses with concomitant catabolism. A variety of strategies exist for decreasing the amount of toxins.

a. Limit intake of the toxin or its precursors: Phenylketonuria (PKU) is a classic example wherein a deficiency of phenylalanine hydroxylase leads to increased phenylalanine in the brain disrupting normal function at all ages and brain development in young children. Restriction of dietary phenylalanine can successfully reduce phenylalanine to levels that are not harmful. Supplementation with special formula and other medical foods containing the other amino acids and calories are essential for treatment to be successful.

Pregnancies in women with PKU present a particular challenge because phenylalanine is teratogenic to the developing fetus. Failure to adequately treat women during pregnancy leads to microcephalic, intellectually disabled children. However, when properly treated, PKU patients and their children can be normal. In that sense, PKU has been a great success story for newborn screening, but adherence to diet can be difficult, especially for older patients.

A preventable source of difficulty for patients is that of access to treatment. In many states, there are laws mandating insurance coverage for medical foods and insurance coverage for adults with PKU, but not in Georgia in spite of advocacy by genetics and the families. Consequently, many cannot afford the formula with tragic and permanent consequences for themselves and their offspring.

Treatment of Genetic Diseasesb. Use alternate pathways to eliminate the toxic metabolites: Ornithine transcarbamylase (OTC) deficiency is a disorder of the urea cycle leading to elevations in ammonia. In addition to limiting protein in the diet, the amount of toxic ammonia the patient has to contend with can be decreased by giving phenylbutyrate, which is conjugated with the amino acid glutamine in the liver and excreted in the urine, eliminating the two ammonia molecules contained within glutamine.

c. Block production of toxic metabolites: Deficiency of the last step of tyrosine degradation, fumarylacetoacetate hydrolase, causes hepatorenal tyrosinemia. Much of the pathogenesis of the disease is to the formation of a toxin formed by alternate pathways, succinylacetone. Inhibition of a proximal step in the pathway with nitisisone markedly decreases the production of succinylacetone thus decreasing hepatocellular damage and malignant transformation, neurologic crises and renal tubular dysfunction.

2. Increase functional protein: Increasing the amount of functioning protein to a sufficient level to ameliorate or prevent disease progression can be accomplished by the use of chemical chaperones, which help mutant protein fold correctly. We have done this for many years with increased doses of vitamin cofactors. Tetrahydrobiopterin administration, for example, can increase phenylalanine hydroxylase activity in some patients with PKU, increasing the amount of phenylalanine they can tolerate. Non-vitamin chaperones are currently in clinical trials for other disorders.

Another way of increasing the amount of functional protein is enzyme replacement therapy. Gaucher disease type I, due to a deficiency of the lysosomal enzyme glucocerebrosidase, causes accumulation of glucocerebroside in macrophages with resultant hepatosplenomegaly, hypersplenism, and bone disease. Gaucher can be effectively treated with biweekly infusions of recombinant enzyme. Enzyme replacement therapy is currently approved for several other diseases.

Transplantation is used for a few disorders, albeit with the mortality and morbidity associated with transplantation for any condition. For example, males with OTC deficiency who survive the neonatal period without severe brain injury can receive a liver transplant, which provides functioning OTC enzyme thereby preventing future hyperammonemic crises. Hematopoietic stem cell transplantation is used not just for hematologic genetic disorders but also as a means for delivery of enzyme into the brain. In severe mucopolysaccharidosis type I, transplantation before 2 years of age can allow transplanted cells to migrate to the CNS, becoming microglial cells that can release enough enzyme to correct the storage found in other cells, preserving cognitive abilities. New means of delivery of enzyme to the CNS may eliminate the need for transplantation in the future.

3. Provide what is missing: The pathogenesis of some disorders is due to the lack of production or recycling of something essential. Biotinidase deficiency, for example, is due to a defective ability to recycle the essential vitamin biotin, leading to progressive deficiency after birth and damage to the CNS. We now detect this condition by newborn screening. Supplementation with biotin completely prevents the manifestations of the disease and is as close to a cure as we have in genetics.

4. Modify the disease pathogenesis: The pathogenesis of genetic disorders is complex and generally imperfectly understood. Marfan syndrome’s most serious manifestation is aortic aneursyms leading to fatal dissection and rupture. For many years, beta-blockers were used to decrease the stress on the aorta, slowing down the rate of progression, but a more effective medication is used now. Marfan is caused by mutations in the gene for fibrillin, leading to decreased fibrillin microfibrils in the extracellular matrix. The damaging effect on the aorta is not predominantly due to some mechanical property of microfibrils, however. Instead, one of fibrillin’s functions is to sequester transforming growth factor beta (TGFβ). Excess action of TGFβ leads to damage to the aorta. Losartan, an angiotensin receptor blocker, is also able to inhibit the intracellular actions of TGFβ, more effectively slowing the progression of the disease.

The Future

This is a hopeful time for patients with genetic disease and their families. An astonishing array of treatments for genetic disorders is currently being developed in the laboratory and tested in the clinic.

The genetic clinical trials unit in the Department of Human Genetics at Emory University is one of the most capable in the world. We are currently conducting clinical trials for Down syndrome, Fragile X, PKU, mucopolysaccharidoses types I and II, and Fabry disease; we will soon begin enrolling patients in trials of treatments for osteogenesis imperfecta, achondroplasia, and Niemann-Pick Disease type B and pre-FDA approval expanded-access studies for hypophosphatasia and cholesterol ester storage disease. In addition to these clinical trials, we participate in many disease registries that yield new insights into specific genetic diseases.

The trials are directed by the physicians Joseph Cubells, Michael Gambello, Hong Li, Suma Shankar, Amy Talboy, Jaime Vengoechea-Barrios, and the author along with a team of experienced coordinators led by Dawn Laney, metabolic dieticians directed by Rani Singh and adult and pediatric psychologists Nadia Ali, Debra Hamilton and Sarah McMurty.

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NGMMA Monthly Meeting-HIPAA Security in the Medical Office

Thursday, January 14th, 2016

January 14, 2016, Dalton Golf Course & Country Club, Dalton, GA. For more information, visit North Georgia MGMA

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