Items Tagged ‘#rare diseases’
August 23, 2017
Gerstner Awardees explore individualized treatments for obesity, rare form of leukemia
By Sharon Rosen 
Precision medicine research has shown that one size does not fit all when it comes to medical care. Early career investigators can bring new ideas and perspectives to the search for treatments tailored to a patient’s unique needs. These are the goals of Andres Acosta, M.D., Ph.D., and Mrinal Patnaik, M.B.B.S. – this year’s recipients […]
Tags: #chronic myelomonocytic leukemia, #CIMCon17, #Dr. Andres Acosta, #Dr. Mrinal Patnaik, #Gerstner Family Career Development Award, #Individualizing Medicine 2017, #leukemia, #NRAS gene, #obesity, #rare diseases, #weight loss, center for individualized medicine
August 10, 2017
Genetic tests + coordinated care + research = hope for patients with a genetic neurological disease
Life with an inherited disease sometimes brings unexpected twists and turns. Five-year-old Gus Erickson has navigated the gyrations with the help of Mayo Clinic’s Neurofibromatosis Clinic. Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerve tissue. Those tumors can develop anywhere in the nervous system, including the brain, spinal cord and […]
Tags: #Center for Individualized Mediicine, #rare diseases, Dr. Dusica Babovic-Vuksanovic, Genetics, genomics, mayo clinic, neurofibromatosis
June 6, 2017
Collaboration key to improving diagnosis and care for patients with rare diseases
By Sharon Rosen
“Desperate for answers,” – that is how William Gahl, M.D., Ph.D., has described many of the patients and families he sees with puzzling disorders. Dr. Gahl is clinical director of the National Institutes of Health (NIH) Undiagnosed Diseases Program. The program aims to provide answers to patients who’ve been suffering for years with mysterious conditions […]
Tags: #CIMCon17, #Dr. William Gahl, #Individualizing Medicine Clinic, #Individualizing Medicine Conference 2017, #rare diseases, #rare genetic diseases, #Undiagnosed Disease Network, #Undiagnosed Diseases Network International, #Undiagnosed rare diseases, center for individualized medicine, mayo clinic, medical research
May 25, 2017
The patient perspective: seeking answers with genetic testing
By Sharon Rosen
Many patients and their families search for years for answers to undiagnosed medical conditions, hoping for a diagnosis and treatment to help relieve often debilitating symptoms. Some of these patients may be candidates for whole exome sequencing, a genetic test that looks at the estimated 20,000 genes that may give us an answer to the […]
Tags: #rare diseases, #rare genetic diseases, center for individualized medicine, DNA Sequencing, Genetic Counseling, Genetic Testing, mayo clinic, Teresa Kruisselbrink, whole exome sequencing
March 9, 2017
Next generation sequencing – a game changer
By Sharon Rosen
Imagine scanning a page for errors manually one letter at a time, versus using a faster tool like spell check. That’s the difference between the first DNA sequencing methods and the new computerized machines known as next generation sequencing. It’s revolutionizing health care. Next generation sequencing technology enables geneticists to examine all of your 22,000 […]
Tags: #Dr. Pavel Pichurin, #medical resarch, #neurological diseases, #Precision Mediicne, #rare diseases, #rare genetic diseases, #targeted panel testing, center for individualized medicine, Dr. Matthew Ferber, Genetic Testing, mayo clinic, next generation sequencing
January 12, 2017
Understanding DNA Sequencing: how it may improve your health now and in the future
By Sharon Rosen
Many people set improving health as one of their goals for the new year. If that’s you, you may be wondering if the latest advances in genetic testing could guide your health care decisions. Should you have your DNA sequenced? What can genetic testing tell you about your current and future health? It can be […]
Tags: #DNA sequencing tests, #Dr. Brendan Lanpher, #Genetic diseases, #Genetic tests, #rare diseases, cancer, center for individualized medicine, mayo clinic, medical research
November 16, 2016
Genetic Counselor Shares Insight into Growing Field at CIM Conference
By Sharon Rosen
Article by Rachel Guibert, Public Affairs Receiving results from genetic testing can elicit a variety of reactions. Patients often wait anxiously to get the answers they are seeking. Unfortunately, sometimes, medical tests lead to more questions than they answer. Genetic counselors are in a unique position to help patients navigate the often complex and confusing […]
Tags: #CIMCon16, #GeneticCounseling, #PrecisionMedicine, #rare diseases, #Teressa Kruisselbrink, center for individualized medicine, Genetic Testing, individualized medicine, mayo clinic, whole exome sequencing