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Fertility specialist Oluyemisi Famuyiwa discusses their article “Why carrier screening results are complex.” Oluyemisi explores the transition to “Genetic Carrier Screening 3.0,” a new era where expanded panels reveal hidden complexities that …
Genetic testing requires more than just a binary result [PODCAST]
We move into every new year carrying beliefs from previous years. Scientific confusion and unresolved questions can sometimes cause society and families to become intellectually and emotionally divided.
Centuries ago, we thought the Earth was flat and the center of the universe, and we feared that sailing exploration would send us over the edge of a cliff. Sir Isaac Newton tried to explain gravity, but now this discussion extends even further …
How DNA and hormones shape who we are
Can you imagine waking up drunk, or getting drunk in the middle of your workday without having touched a drop of alcohol?! When I first saw my husband Joe having these drunken episodes, I thought he must be secretly drinking or at least sleepwalking to the liquor cabinet.
He’d been having weird episodes for six years and got checked out by a neurologist, an endocrinologist, a cardiologist, and other specialists, but …
My husband’s rare drunken disease made me an international advocate
Genetic testing is now the standard of care for common diseases such as cancer and heart disease, predicting risk and enabling earlier and more effective patient care. It’s an exciting revolution in patient care that has far-reaching potential and continues to grow and expand. But in Canada, we are not using all of our health human resources to take advantage of this important transformation in health care.
What’s missing are …
It’s time for more genomics education in nursing
When I started medical school thirty years ago, and learned about the discovery of streptomycin, I wondered what it must have been like for the doctors who first used it to cure the “white death.” How satisfying it must have been to tell a previously hopeless patient, “We can cure you.”
What brought this to mind was my rotation at an old part of the hospital where I was training. I …
How gene editing and immunotherapy are changing lives
In a recently published study, it was found that a set of 4 genes (JUN, CEBPB, PRKCB, ENO2, or CEBPG) was shown to predict the diagnosis of heroin addiction with an accuracy rate of around 85 percent. This is an amazing development and could open the door to knowing who is at high risk of opiate addiction before the prescription is written. If similar markers can be found for …
Genetic testing may help cure or condemn those who suffer from addiction
The concept of epigenetic inheritance is fairly recent, having emerged in the late twentieth century. Yet, epigenetic inheritance is gaining more and more attention and interest in the scientific community. Research on epigenetic inheritance continues to be published in the world’s foremost scientific journals, such as a study recently published in the journal Nature Communications. What is epigenetic inheritance, and what makes it so interesting to the scientific community?
A …
Epigenetics and our inheritance to future generations
Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by a broad spectrum of clinical features, including intellectual disability, growth retardation, and distinct craniofacial and limb abnormalities. Named after Dr. Jack Rubinstein and Dr. Hooshang Taybi, who first described the syndrome in 1963, RTS remains an area in which the medical community has limited understanding, diagnosis, and treatment options. Improved awareness and research efforts are needed …
Rubinstein-Taybi syndrome: Understanding a rare disorder and supporting patients and families
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Join us as we explore the history and evolution of the orphan drug revolution with James Geraghty, a health care executive. Discover how the pharmaceutical industry of the 1970s, driven by a pursuit of predictable profitability, led …
An inside look at the orphan drug revolution [PODCAST]
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Today, we’re discussing the news about actor Chris Hemsworth and his genetic test results. Hemsworth announced that he is taking a break from acting after learning that he has a heightened risk of developing Alzheimer’s disease. Our …
Chris Hemsworth and personalized medicine: How genetic testing can impact your health [PODCAST]
Creating something new, taking calculated risks, and effectively allocating resources are all aspects of entrepreneurship. Both environmental and genetic variables play a role in this intricate process. This article will examine how a person’s propensity to become an entrepreneur is influenced by genetic and environmental factors that drive entrepreneurship.
Personality qualities and risk tolerance are critical genetic determinants of entrepreneurship. These characteristics can influence an individual’s approach to entrepreneurship and can …
The DNA of entrepreneurs: How your genes could determine your business success
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“Despite these high numbers, we cardiologists often look to genetic screening last in our diagnostic workup. But without genetic screening, we can’t always see the whole picture in our cardiomyopathy patients. Once we’ve excluded coronary disease as …
Think about genetics in heart disease [PODCAST]
In this episode, we talk with writer Dustin Grinnell. He takes us behind the scenes on his ideas for his books, his research process, and how he brings medical stories to life. We also delve into the realm of speculative fiction, and how that intersects with medicine, technology, and ethical dilemmas.
Inside the mind of a medical novel writer [PODCAST]
Communicating with relatives that they may share a gene variant that could cause disease is problematic. Maybe you do not want to share that information with other relatives. Maybe other relatives do not want to know about such information.
Examples of such gene variants are BRCA1 and BRCA2 that predispose women to breast and ovarian cancer and men for some forms of cancer.
Medical practice may make more use …
Selectively sharing genetic information in the future
“The blood test shows a genetic mutation at MLH1. You have Lynch.” The words were spoken by my genetic counselor the minute I sat in my chair should have hit me harder, but I only felt numb. I glanced at my closest friend, the person they had insisted go with me to the appointment, and watched as tears filled her eyes. I glanced back at the genetic counselor and the …
With Lynch Syndrome, knowledge alone isn’t power
The month of September has been Women In Medicine Month (according to the AMA) since 1989.
Statistics are always telling:
Medical eponyms: Where women are clearly underrepresented
It’s been very interesting to read the range of responses to the recent FDA recent crackdown on the personal genetic service company 23andMe. Some have decried the FDA as too paternalisticwhile others have said the FDA is rightfully protecting the health of the public.
The evidence, I believe, shows the FDA is correct: 23andMe should not be doing genetic tests that have serious medical implications. Let’s look at an …
The problems with the BRCA test from 23andMe
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