Apr 16, 2019

Rare, undiagnosed diseases are relatively common

By Susan Buckles @susanbuckles
As many as 25 million Americans – about 1 in 13 people - suffer from a rare, undiagnosed condition.* April 29 has been designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and [...]
Rare, undiagnosed diseases are relatively common
Apr 8, 2019

Genetic test solves mystery of family bleeding disorder

By Colette Gallagher @colettegallagher
The Riggs family had a bleeding disorder that spanned three generations and affected the health of multiple family members. They never knew the cause of it, the long term risks associated with it, or the impact it may have on future generations — until a genetic test revealed the answer. [...]
Apr 2, 2019

Purna Kashyap, M.B.B.S. - testing the bugs within to maintain health, detect and treat disease

By Sharon Rosen @sharonhrosen
The use of microbiome testing – which analyzes the trillions of bacteria in and on the body – is on the move. It’s going from the research lab into the clinic to help guide patient care. DNA testing technologies have revolutionized researchers’ ability to identify individual bacterial strains driving disease. [...]
Purna Kashyap, M.B.B.S. - testing the bugs within to maintain health, detect and treat disease
Mar 26, 2019

Lifesaving information - genetic testing reveals risk, steps to prevent aortic dissection

By Sharon Rosen @sharonhrosen
Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team [...]
Lifesaving information - genetic testing reveals risk, steps to prevent aortic dissection
Mar 19, 2019

Not the end of the road: Delivering the diagnosis of sex-chromosome trisomy

By Barbara J. Toman @barbaratoman
Even if you've never heard the word "trisomy," you probably know someone with the condition. March is Trisomy Awareness Month, a time to raise awareness about trisomy conditions and the challenges they can pose to individuals and families. Trisomy means having three copies of a chromosome instead of two. Down [...]
Not the end of the road: Delivering the diagnosis of sex-chromosome trisomy
Mar 12, 2019

Colon cancer awareness: A new era in cancer detection and treatment

By Susan Buckles @susanbuckles
March is Colorectal Cancer Awareness Month, a time to focus on one of the most common and preventable forms of cancer. Mayo Clinic is applying a new genomic lens to colorectal and other cancers to identify which are the types that run in families. The answer to that could open [...]
Colon cancer awareness: A new era in cancer detection and treatment
Mar 5, 2019

Meet Nicholas Chia, Ph.D. - pushing the envelope to uncover causes, new treatments for colorectal cancer

By Sharon Rosen @sharonhrosen
Space-age technologies, DNA sequencing and artificial intelligence – all tools for discovery that Nicholas Chia, Ph.D. and his team are using to push the envelope and improve care for complex diseases like colorectal cancer. They’re collaborating with scientists from NASA to uncover how the microbiome – the trillions of microbes [...]
Meet Nicholas Chia, Ph.D. - pushing the envelope to uncover causes, new treatments for colorectal cancer
Feb 27, 2019

Bringing the promise of whole genome DNA sequencing to more patients

By Susan Buckles @susanbuckles
For people with a rare genetic disease, the path to a diagnosis can be a long, costly and painful journey. Often times, answers to unexplained conditions go undetected, because the underlying cause lies deep within a person’s genetic code, inaccessible to standard laboratory testing. Whole genome sequencing may unlock those [...]
Bringing the promise of whole genome DNA sequencing to more patients
Feb 21, 2019

Once a patient, now a research fellow: Kelsey Stuttgen, Ph.D. is paying compassion forward

By Sharon Rosen @sharonhrosen
One minute the young girl was skiing; the next she had fallen, had severe pain in her leg and was rushed to the hospital. It could have been a scary time filled with questions about the road ahead. But for Kelsey Stuttgen, Ph.D., the compassionate care delivered by her orthopedic [...]
Once a patient, now a research fellow: Kelsey Stuttgen, Ph.D. is paying compassion forward
Feb 14, 2019

When the shoelaces fray: short telomere syndromes

By Barbara J. Toman @barbaratoman
Unlike gray hair, one of the most significant signs of aging is invisible to the naked eye. Deep inside cells, at the tips of thread-like chromosomes, structures known as telomeres protect chromosomes from deterioration—a bit like the way caps at the ends of shoelaces prevent fraying. Telomeres naturally shorten as [...]
When the shoelaces fray: short telomere syndromes
Feb 8, 2019

Personalized diets: foods shaped to your lifestyle, genetics and gut

By Susan Buckles @susanbuckles
Have you ever wondered why some people can eat all they want and never gain weight while others exercise and watch what they eat but still can’t shed a pound? The clue may lie partly in your gut microbiome, the complex community of bacteria within the digestive tract that is [...]
Personalized diets: foods shaped to your lifestyle, genetics and gut
Feb 4, 2019

Meet Chuanhe Yu, Ph.D.: searching for the genetic switches linked to disease

By Sharon Rosen @sharonhrosen
Chuanhe Yu, Ph.D. has always had an interest in genetics – the thousands of genes that make each of us unique. His research focuses on the growing field of epigenetics, which aims to better understand how environmental and lifestyle factors cause chain reactions, flipping the switch on genes and the  [...]
Meet Chuanhe Yu, Ph.D.: searching for the genetic switches linked to disease
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