Last Posted: Sep 04, 2019
- When You Don’t Know, You Feel Alone in the World’ The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019 - Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.
Whiffin Nicola et al. JAMA 2019 Aug - One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019 - Therapeutic advances in SMA.
Ludolph Albert C et al. Current opinion in neurology 2019 Oct 32(5) 777-781 - The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine, August 28, 2019 - The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.
McConkie-Rosell Allyn et al. Clinical genetics 2019 Aug - The $6 Million Drug Claim- New treatments for rare diseases are changing the lives of patients, but the price can reach millions of dollars for a single person.
K Thomas et al, NY Times, August 25, 2019 - [Pay attention to rare diseases of the genetic counseling in deafness].
Wang Q J et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2019 Sep 33(9) 799-803 - Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker Christoffer et al. Frontiers in genetics 2019 10611 - For ‘Diagnosis’ Show, Dr. Lisa Sanders Lets Times Readers Around the World Join in the Detective Work
A Times Magazine columnist credits Sherlock Holmes and global crowdsourcing with helping her solve patients’ mysterious ailments. A Gardiner, NY Times, August 16, 2019
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