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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
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