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Category Archives: Genetic Medicine

The top 10 ethical issues medical students should be taught – American Medical Association

Medical ethics canaffectthe professional and personal development ofmedicalstudents, but what are the specific present-day issuesmedicaleducators should prepare them for as future physicians? If youre searching for concrete insights, look no further.

Although there isnt one single approach to teachingmedicalethics and professionalism,medicalstudents must understand ethical standards and howtomeet them while theyre still inmedicalschooland as they prepare for medical practice. Thats where modernizing ethics education becomes valuable.

Authors ofThe Essential Role of Medical Ethics Education in Achieving Professionalism: TheRomanellReport,published inAcademic Medicine, offereda comprehensive list of 26 proposed objectives for medical school and residency training programs.

Here are10 of the more emerging ethical issues for medical students to explore, as identified in theRomanellReport, with links to keyresourcesfrom the AMA to helpimprove your understanding.

For more on medical ethics education, readtheRomanell Reportandalsolearn aboutthree big medical ethics scenarios medical school doesnt prepare you for.

Ethical decision-making necessarily takes place within larger systems, and nowhere is that truer than in medicine. TheAMA Health Systems Science Learning Seriesprovides medical students with a clear understanding of how health care is delivered, how health care professionals work together to deliver that care, and how the health system can improve patient care and health care delivery.

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The top 10 ethical issues medical students should be taught - American Medical Association

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Edmonds girl, 4, has beauty that’s ‘more than skin deep’ – The Daily Herald

EDMONDS Harper Foy arrived a month early. Her mom was out gardening when labor began. What Angie and Kevin Foy didnt know could never have suspected was that their baby girl would come into this world with an incredibly rare condition and daunting challenges for life.

The more we share our story, the less people will be scared, Angie Foy said Wednesday as Harper, an energetic 4-year-old, jumped around and dribbled a basketball through the familys kitchen.

Harper doesnt look like most other people. Today, her skin appears somewhat like a burn victims might.

At birth her parents were stunned by her condition. She suffers from harlequin ichthyosis, a severe genetic disorder affecting the skin. Its so rare, the Foys said, that doctors at EvergreenHealth, the Kirkland hospital where she was born Sept. 20, 2015, had never seen it.

Infants with harlequin ichthyosis are born with very hard, thick skin covering most of their bodies. It forms large plates separated by deep cracks. The condition alters the shape of the eyelids, nose, mouth and ears. And that hard skin severely restricts movement, breathing especially.

It builds up over pregnancy. With time it becomes armor-like, said Dr. Deepti Gupta, a dermatologist at Seattle Childrens Hospital and an assistant professor in the University of Washington School of Medicines pediatrics department.

After birth, she said, the plaques break up and slowly lift off.

There is no cure for Harpers condition, Gupta said Thursday. Since those anguishing early days, she has treated the little girl and gotten to know her unbeatable spirit. She has seen the Foys devotion to Harpers care.

Shes spunky, said Angie Foy, 43, who shares with her husband a nearly round-the-clock routine. They bathe Harper around four times each day, for about an hour, and cover her little body with Aquaphor. The ointment keeps her skin from turning scaly.

Shes definitely got an awesome personality, said Kevin Foy, 41. Shes got a great spirit. If she didnt, I dont know if shed be here.

In the past, it used to be very rare for affected infants to survive the newborn period, according to the U.S. Library of Medicine, part of the National Institutes of Health. Risks include respiratory failure, dehydration and life-threatening infection.

Its actually very, very rare, one in about 500,000 births, said Gupta, who saw such a case during her medical training in San Francisco. With improved care in todays neonatal intensive care units, and the use of retinoid medication, more are living longer and longer, Gupta said. Were seeing the earliest of those patients in their 20s and 30s.

Harlequin ichthyosis is caused by mutations in a gene, ABCA12, that normally provides instructions for making a protein needed for normal skin development. Both parents of an affected child have the mutated gene, but typically not the condition.

The Foys both carry the mutated gene. But with a son, 9, and daughter, 20, not affected by harlequin ichthyosis, they had no idea. Angie Foy had an ultrasound exam during pregnancy. The sonogram pictured nothing of concern, they said.

Gupta said skin isnt fully formed until the third trimester of a pregnancy.

Never in a million years, Angie Foy said, could they have foreseen their youngest childs condition.

Vital care at home

Every four hours or so, Harpers parents give her a bath or shower. They have a special tub, with micro-bubble technology thats helpful for people with skin conditions.

Soaks and ointment keep Harpers skin from thickening, turning hard and cracking.

Her body is always making new skin, Angie Foy said. We have to do it or it would build up again.

Its a 24-hour job, said Kevin Foy, who also coaches son Jaxsons fourth-grade basketball, soccer and football teams. Jaxson attends Holy Rosary School in Edmonds, where the Foys said the community has shown great support.

To care for Harper, both parents work from home. Her reddish skin is now paperthin and prone to bleeding even from the little bumps of normal childhood activities. Angie Foy sells real estate. Her husband works in the telecom industry, and is involved in cell tower leases and construction.

On Wednesday, as Harper dashed into her room, she ran into something that resulted in a small cut. There were a few tears as the 4-year-old endured placement of a Band-Aid on the side of her head.

If she falls, she bleeds, her mom said as Harper retreated under a blanket next to her dad on the couch.

As a baby, during a couple months at Seattle Childrens, Harper had surgery to release pressure caused by the plaques. The condition includes the risk of losing extremities due to a lack of blood circulation. Early on, Harper lost the ends of some of her fingers.

Shes a fighter, Kevin Foy said.

Harper accompanies her dad when he coaches her brothers teams, and even has her own whistle.

The prospect of school, though, presents hurdles. Right now, Harper cant go down stairs because the skin on her legs cracks. During a school day, her dad said, shed need to come home after four hours to shower.

We need to get her stronger and bigger, Angie Foy said.

There are other concerns. People with harlequin ichthyosis are sensitive to sun. Theyll always have red itchy skin. And because sweating is impaired, overheating is an issue. Harper also needs more fluids and calories than normal.

They do have higher calorie requirements, Gupta said. The skin is doing a lot more work.

The doctor sees the possibility of independent lives for Harper and others with her condition. Theres no effect on cognitive abilities, said Gupta, who described Harper as a bright child who understands her care routine.

Someday, I think she should be able to live independently, Gupta said. Theyve been doing a lot of skin care from day one. As she gets older, I bet shell take some of it over herself. Its a constant in her life.

Harper in the spotlight

Harper said Wednesday that her favorite toys are a monster truck and a basketball. Shes also part of something unexpected. Late last year, she did a photo shoot with a modeling agency.

That chapter in her life was featured in a Dec. 19 blog, Harper models to inspire the world: Youre Beautiful in Your Own Skin, on the Seattle Childrens Hospital website.

Angie Foy said people often stare at Harper, or avoid getting close because they fear her condition is contagious.

We want her to know she is beautiful, both inside and out, Harpers mom said in the blog, written by Kathryn Mueller.

The Foys have signed a contract for Harper with TCM Models & Talent, a Seattle-based agency, and hope others will get a chance to see the little girl they adore.

The modeling industry is moving toward more inclusion, said Brittni Thoreson, who books kids through the childrens division of the agency. We represent Harper now, Thoreson said. She is seeing more opportunities for those with special needs, people of color, larger-size models and whole families.

Were broadening our horizons. The whole industry is moving toward reflecting real humans, Thoreson said. And Harper has quite the little personality.

Harper was involved in an initial shoot with photographer Elke Van de Velde. Some pictures show her wearing Seahawks gear. In others, shes with doctors and nurses from Seattle Childrens.

Its a fun opportunity for kids to kind of come out of their shells, Thoreson said.

Shes an amazing girl. Part of her energy is just Harper, Gupta said. The message of beauty kind of lies in all of us. Its more than skin deep.

Julie Muhlstein: 425-339-3460; jmuhlstein@heraldnet.com.

Learn more

More about Harper Foy, an Edmonds girl born with harlequin ichthyosis, at: pulse.seattlechildrens.org/harper-models-to-inspire-the-world-youre-beautiful-in-your-own-skin

Learn about the genetic skin disorder harlequin ichthyosis at: rarediseases.info.nih.gov/diseases/6568/harlequin-ichthyosis

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Edmonds girl, 4, has beauty that's 'more than skin deep' - The Daily Herald

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AIIMS to sensitise people on incurable Celiac – The Sunday Guardian

The institute is already carrying out research and it is the main centre not only in India, but in entire Asia.

New Delhi:The countrys premier All India Institute of Medical Sciences (AIIMS), Delhi, will sensitise people about the Celiac disease, which is spreading its tentacles among a large population. The disease is so far incurable and there is no medicine for it. Saturday was Celiac Day.The institute is already carrying out research and it is the main centre not only in India, but in entire Asia. It runs a special clinic for patients with Celiac disease every Thursday afternoon. So far 1,300 patients suffering from disease have been registered with the clinic.AIIMS Director Dr Randeep Guleria said, as per estimates, about 60-80 lakh Indians have Celiac disease, of them only a few have been diagnosed. With increasing awareness, the number of such patients will rise exponentially. There is a need to further increase the awareness about the disease and strengthen infrastructure for widespread availability of the diagnostic tests and also availability of reliable and affordable gluten-free food, he said.The disease occurs because of ingestion of a protein, called gluten, which is present in cereals like wheat and barley. This disease occurs only to those who have genetic susceptibility (presence of specific genes) which develops it. In these patients, gluten protein is not digested completely which leads to damage of the small intestine. Since food is not absorbed properly, patients fail to grow in height and weight, develop diarrhoea, anaemia and weakness of bones. They feel weak and thin.Speaking to this newspaper, Dr Govind Makharia said there is no treatment of the disease so far though the research is going on all over the world, including in AIIMS.The only way treatment is to avoid food products made of wheat and barley, which contains gluten. Early diagnosis is the key. Someone who is having regular complaints of diarrhoea, anemia should get himself diagnosed. It can be done through a blood test, he said.Earlier, he said, it was believed that the disease occurs only in children and seen only by paediatricians. But this is not true. Celiac disease can affect person of any age, including even elederly. Many a time, the patient many not have any obvious symptoms, but they fail to gain weight and their bones remain week and fracture even with minor trauma, he added.

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AIIMS to sensitise people on incurable Celiac - The Sunday Guardian

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Press Registration Reminder! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting – Yahoo Finance

Join journalists from around the world covering the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting March 17-21, 2020 in San Antonio, TX

BETHESDA, Md., Feb. 12, 2020 /PRNewswire/ --The American College of Medical Genetics and Genomics (ACMG) heads to a new destination in sunny San Antonio, Texas in 2020. Named one of the fastest growing meetings in the USA by Trade Show Executive Magazine, the ACMG Annual Clinical Genetics Meeting continues to provide groundbreaking research and news about the latest advances in genetics, genomics and personalized medicine. To be held March 17-21, the 2020 ACMG Annual Meeting will feature more than 40 scientific sessions as well as three Short Courses, a variety of workshops, TED-Style talks and satellite symposia, and more than 750 poster presentations on emerging areas of genetic and genomic medicine.

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. (PRNewsfoto/American College of Medical G...)

Interview those at the forefront in medical genetics and genomics, connect in person with new sources and get story ideas on the clinical practice of genetics and genomics in healthcare today and for the future. Learn how genetics and genomics research is being integrated and applied into medical practice.

Topics include gene editing, cancer genetics, molecular genomics, exome sequencing, pre- and perinatal genetics, biochemical/metabolic genetics, genetic counseling, health services and implementation, legal and ethical issues, therapeutics and more.

Credentialed media representatives on assignment are invited to attend and cover the ACMG Annual Meeting on a complimentary basis. Contact Reymar Santos at rsantos@acmg.net for the Press Registration Invitation Code, which will be needed to register at http://www.acmgmeeting.net.

Abstracts of presentations are available online at http://www.acmgmeeting.net. A few 2020 ACMG Annual Meeting highlights include:

Program Highlights:

Cutting-Edge Scientific Concurrent Sessions:

Three Half-Day Genetics Short Courses on Monday, March 16 and Tuesday, March 17:

Photo/TV Opportunity: The ACMG Foundation for Genetic and Genomic Medicine will present bicycles to local children with rare genetic diseases at the Annual ACMG Foundation Day of Caring on Friday, March 20 from 10:30 AM 11:00 AM at the Henry B. Gonzlez Convention Center.

Social Media for the 2020 ACMG Annual Meeting: As the ACMG Annual Meeting approaches, journalists can stay up to date on new sessions and information by following the ACMG social media pages on Facebook, Twitterand Instagramand by usingthe hashtag #ACMGMtg20 for meeting-related tweets and posts.

Note be sure to book your hotel reservations early.

The ACMG Annual Meeting website has extensive information at http://www.acmgmeeting.net.

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

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Raye Alford, PhD ralford@acmg.net

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SOURCE American College of Medical Genetics and Genomics

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Press Registration Reminder! Countdown to the 2020 ACMG Annual Clinical Genetics Meeting - Yahoo Finance

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ACSM Tackles Myth on Genetics and Heart Disease as Part of American Heart Month – Newswise

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Newswise (Indianapolis, IN) Nearly half of all U.S. adults have some type of cardiovascular disease. Its a heartbreaking statistic literally and figuratively. People often believe their risk for heart disease cannot be reduced if they have a genetic predisposition. In honor of American Heart Month, the American College of Sports Medicine (ACSM) and ACSM Fellow Beth A. Taylor, Ph.D., have teamed up to shatter this heart myth.

The truth about the heritability (or genetic component) of heart disease is a glass far more full than empty, as long as we look at it accurately, says Dr. Taylor, associate professor of kinesiology at the University of Connecticut and the director of exercise physiology research at Hartford Hospital.

Genetics do play a significant role in increasing heart disease risk. Research shows that individuals at high genetic risk have a 91% higher chance of experiencing a cardiac event, yet that risk can be cut nearly in half by adopting healthy lifestyles.

We may have genes that predispose us to cardiovascular disease, but when, how and to what extent those genes express themselves is highly influenced by lifestyle, says Dr. Taylor. Being more physically active, aiming for a healthy weight, eating a heart healthy diet and avoiding smoking can improve heart health and reduce the risk of coronary events by 46% for high genetic risk individuals.

The outlook looks even better when considering being healthy across the lifespan rather than at a single age. The Framingham Heart Study, a project of Boston University and the National Heart, Lung and Blood Institute (NHLBI), has sought to identify common factors contributing to cardiovascular disease (CVD) by following CVD development in three generations of participants.

Dr. Taylor adds, When those three generations of the Framingham Heart Study were reviewed, investigators concluded that the heritability of ideal cardiovascular health was only 13-18%, with health behaviors and lifestyle factors being much more influential.

She says other studies have found that adhering to just four out of five of healthy lifestyle factors (e.g., avoiding smoking and excessive alcohol intake, performing 30 or more minutes a day of moderate-to-vigorous physical activity, eating a heart healthy diet) increased the likelihood of living free of cardiovascular disease, as well as cancer and Type 2 diabetes, by more than 10 years in women and seven years in men.

For Dr. Taylor, the take-home message is simple. You cant completely cure a broken heart; however, you can make it better or worse based on your lifestyle. The choice is yours!

Find more heart health resources from ACSM at https://www.acsm.org/read-research/trending-topics-resource-pages/heart-health-resources.

# # #

About the American College of Sports Medicine

The American College of Sports Medicine is the largest sports medicine and exercise science organization in the world. More than 50,000 international, national and regional members and certified professionals are dedicated to advancing and integrating scientific research to provide educational and practical applications of exercise science and sports medicine. More details at acsm.org.

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ACSM Tackles Myth on Genetics and Heart Disease as Part of American Heart Month - Newswise

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We’ve Sequenced the Human Genome. So Why Haven’t We Cured More Diseases? – Discover Magazine

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winningjournalist imagined2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate,said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health,predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clintonstatedthe Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recentarticle in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation ofbipolar disorder,schizophreniaandalcoholism, among other conditions and behaviors. These articles drewmassive attentionin thepopular media, but weresoonretractedorfailedattemptsatreplication. These reevaluations completely undermined the initial conclusions, which often had relied onmisguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such asHuntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

A silver bullet genetic fix is still elusive for most diseases. (Credit: drpnncpptak/Shutterstock)

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy.Gene therapyhas gradually progressed in research along a very bumpy path, which has included accidentally causingleukemiaandat least one death, but doctors recently have been successful treatingsome rare diseasesin which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

This article is republished from The Conversation under a Creative Commons license. Read the original article. This opinions expressed in this article belong solely to the author.

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We've Sequenced the Human Genome. So Why Haven't We Cured More Diseases? - Discover Magazine

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