Items Tagged ‘#rare genetic diseases’

April 10, 2018

Celebrating 15 years of advances in genomics: a time to reflect and look forward

By Sharon Rosen Sharon Rosen

DNA sequencing and genetic testing have changed medical practice by speeding diagnosis of rare diseases for which patients have visited many different medical providers in search of answers, offering new options in prenatal testing and ushering in a new era of individualized medicine. Genomics moved to the forefront of several areas of medicine after completion […]

View full entry

Tags: #15 for 15 Celebration, #cell-free DNA testing, #CIMCon18, #DNA sequencing tests, #Dr. Megan Allyse, #Dr. Myra Wick, #expanded carrier screening, #prenatal testing, #rare and undiagnosed diseases, #rare diseases, #rare genetic diseases, #reproductive health


December 26, 2017

Bridging the gap: Mayo physician-scientist shares expertise in rare genetic diseases at international summit

By Sharon Rosen Sharon Rosen

Genomic testing has become an important tool in unlocking the genetic cause of many rare diseases and helping provide a diagnosis for patients and their families who have often spent years searching for answers. But many physicians, especially those in underdeveloped countries, do not have training in medical genetics or the resources to access genomic […]

View full entry

Tags: #Health Disparities, #International Summit of Human Genetics and Genomics, #Mayo Clinic Department of Clinical Genomics, #Mayo Clinic Neurofibromatosis Clinic, #National Genome Research Institute, #rare diseases, #rare genetic diseases, #rare genetic disorders, #undiagnosed diseases, center for individualized medicine, Dr. Dusica Babovic-Vuksanovic, Genetic Testing


October 5, 2017

#CIMCon17: learn from experts moving genomic discoveries into patient care

By Sharon Rosen Sharon Rosen

Mayo Clinic is a leader in moving important advancements in precision medicine from the laboratory into patient care, offering hope and healing. The Individualizing Medicine Conference: Advancing Care Through Genomics gives medical providers and scientists the opportunity to learn firsthand the newest ways genomic medicine is improving care for patients. The Mayo Clinic Center for […]

View full entry

Tags: #CIMCon17, #Consumer genomics, #Dr. David Ledbetter, #Dr. David Relman, #Dr. Judy Cho, #Dr. Rachel Tyndale, #Dr. Rob Knight, #Dr. Robert Green, #Dr. Stephanie Devaney, #Dr. William Gahl, #genomic testing, #Home DNA tests


August 22, 2017

Experts discuss hot topics in precision medicine – home DNA tests, pain management, undiagnosed diseases and more

By Sharon Rosen Sharon Rosen

New genomic technologies and discoveries are transforming medical care in ways that we have yet to fully understand. It’s no longer business as usual. Physicians are seeing new approaches to many aspects of daily medical care, such as ordering genetic tests, choosing pain management therapies or prescribing medications. For example, both physicians and patients may […]

View full entry

Tags: #CIMCon17, #Dr. Amy Lemke, #Dr. David Bick, #Dr. Donald Basel, #Dr. James Liu, #Dr. Robert Green, #Dr. Susanne Haga, #Dr. Wendy van Zelst-Stams, #Dr. William Mauck, #Individualizing Medicine 2017, #pain management, #rare genetic diseases


July 25, 2017

Workshops to offer practical ways to apply genomic medicine to improve care

By Sharon Rosen Sharon Rosen

Genetic testing is increasingly used in new ways to improve diagnosis and treatment for many conditions such as advanced cancers, cardiovascular diseases and gastrointestinal disorders. Post conference sessions at this year’s Individualizing Medicine 2017: Advancing Care Through Genomics are offered to help providers and patients learn how they can tap into these promising new technologies. […]

View full entry

Tags: #cardiovascular genomics, #CIMCon17, #continuing medical education, #gastronintestinal diseases, #genetic disorders, #Individualizing Medicine 2017, #liver diseases, #Lysomal disease, #medical education, #rare genetic diseases, #rare genetic disorders, Cardiovascular Disease


June 6, 2017

Collaboration key to improving diagnosis and care for patients with rare diseases

By Sharon Rosen 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 […]

View full entry

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 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 […]

View full entry

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 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 […]

View full entry

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


Contact Us · Privacy Policy