Treat the Pathway, not the Gene (from Precision Medicine and the Reinvention of Human Disease)
Treat the key pathway, not the genetic mutation (fromPrecision Medicine and the Reinvention of Human Disease)Some of the earliest and most successful Precision Medication drugs have targeted specific mutations occurring in specific subsets of diseases. One such example is ivacaftor, which targets the G551D mutation present in about 4% of individuals with cystic fibrosis [135]. It is seldom wise to argue with success, but it must be mentioned that the cost of developing a new drug is about $5 billion [136]. To provide some perspective, $5 billion exceeds the total gross national product of many countries, including Sierra L...
Source: Specified Life - February 5, 2018 Category: Information Technology Tags: clinical trials convergent pathways cost of precision medicine precision treatment Source Type: blogs
Shutdown of Claritas Genomics Comes as a Surprise to Lab Community
The recent shutdown ofClaritas Genomics came as a surprise to many lab professionals with some reports making reference to the possibility that inadequate reimbursement for genetic testing may have been the root cause (see:Sudden Shutdown of Claritas Genomics After Five Years as A Leading Source of Pediatric Genetic Testing..) Below is an excerpt from the article:[The shutdown of Claritas may be] the latest market sign of how health insurers are making it difficult for labs to get paid for proprietary molecular diagnostic assays and genetic tests....Claritas was like other genetic testing laboratories... ...
Source: Lab Soft News - January 31, 2018 Category: Laboratory Medicine Authors: Bruce Friedman Tags: Clinical Lab Industry News Clinical Lab Testing Food and Drug Administration Genomic Testing Lab Industry Trends Lab Regulation Medical Consumerism Medical Research Public Health Source Type: blogs
The importance of nutrition in cystic fibrosis
(Source: Notes from Dr. RW)
Source: Notes from Dr. RW - January 20, 2018 Category: Internal Medicine Tags: pulmonary Source Type: blogs
Domino heart transplantation – Cardiology MCQ – Answer
>>>Available Here with Free Look Inside Option
Correct answer: 3. Both 1 and 2
In domino heart transplantation, the donor receives heart lung transplantation. The excised heart is transplanted to another recipient so that the donor for recipient of domino heart transplantation is alive, unlike the conventional donor who is brain dead.
In one report of 10 cases of domino heart transplantation, one year survival of donor was 60% while that of recipient was 90% [1]. It worthwhile noting that donors had terminal cardio pneumopathy (mostly primary pulmonary hypertension, one case of Eisenmenger syndrome and one each...
Source: Cardiophile MD - January 7, 2018 Category: Cardiology Authors: Prof. Dr. Johnson Francis, MD, DM, FACC, FRCP Edin, FRCP London Tags: Cardiology MCQ DM / DNB Cardiology Entrance Source Type: blogs
Update on cystic fibrosis related liver disease
(Source: Notes from Dr. RW)
Source: Notes from Dr. RW - January 6, 2018 Category: Internal Medicine Tags: gastroenterology pulmonary Source Type: blogs
Good source of information about cystic fibrosis
(Source: Notes from Dr. RW)
Source: Notes from Dr. RW - December 28, 2017 Category: Internal Medicine Tags: infectious disease pulmonary Source Type: blogs
Infections in cystic fibrosis and eligibility for lung transplantation
(Source: Notes from Dr. RW)
Source: Notes from Dr. RW - December 28, 2017 Category: Internal Medicine Tags: infectious disease pulmonary Source Type: blogs
Natural Disaster Planning for At-Risk Hospice Patients
This article is the first in a series about our hospice’s response to the storm emergency.We triaged patients to maintain their safety, based on their risk of flooding at home and the risk of electricity loss (especially for patients who relied on high oxygen flows). We moved high risk patients to care centers with low flood risks and back-up electrical generators. This included moving at-risk patients out of hospice care centers, assisted living, nursing homes, or their homes.At my care center, we took 16 single-occupancy rooms, and set it up for 30 patients and their families (double-occupancy for all but 2 rooms). Spa...
Source: Pallimed: A Hospice and Palliative Medicine Blog - December 18, 2017 Category: Palliative Care Tags: disaster emergency preparedness hospice hurricane inpatient rich room weather Source Type: blogs
A More Precise Definition of Precision Medicine?
By DAVID SHAYWITZ, MD
The appeal of precision medicine is the promise that we can understand disease with greater specificity and fashion treatments that are more individualized and more effective.
A core tenet (or “central dogma,” as I wrote in 2015) of precision medicine is the idea that large disease categories – like type 2 diabetes – actually consist of multiple discernable subtypes, each with its own distinct characteristics and genetic drivers. As genetic and phenotypic research advances, the argument goes, diseases like “type 2 diabetes” will go the way of quaint descriptive diagnoses like “dropsy”...
Source: The Health Care Blog - November 28, 2017 Category: Consumer Health News Authors: John Irvine Tags: Uncategorized Broad Institute CAD Circulation Disease Categories Gimish Model of Disease Kathiresan Khera Massachussetts General Hospital Source Type: blogs
Why “ Precision Health ” May Not Be the Precise Word
By DAVID SHAYWITZ, MD
The appeal of precision medicine is the promise that we can understand disease with greater specificity and fashion treatments that are more individualized and more effective.
A core tenet (or “central dogma,” as I wrote in 2015) of precision medicine is the idea that large disease categories – like type 2 diabetes – actually consist of multiple discernable subtypes, each with its own distinct characteristics and genetic drivers. As genetic and phenotypic research advances, the argument goes, diseases like “type 2 diabetes” will go the way of quaint descriptive diagnoses like “dropsy”...
Source: The Health Care Blog - November 28, 2017 Category: Consumer Health News Authors: John Irvine Tags: OP-ED Uncategorized Broad Institute CAD Circulation Disease Categories Gimish Model of Disease Kathiresan Khera Massachussetts General Hospital Source Type: blogs
A New Gimish Model of Complex Disease?
By DAVID SHAYWITZ, MD
The appeal of precision medicine is the promise that we can understand disease with greater specificity and fashion treatments that are more individualized and more effective.
A core tenet (or “central dogma,” as I wrote in 2015) of precision medicine is the idea that large disease categories – like type 2 diabetes – actually consist of multiple discernable subtypes, each with its own distinct characteristics and genetic drivers. As genetic and phenotypic research advances, the argument goes, diseases like “type 2 diabetes” will go the way of quaint descriptive diagnoses like “dropsy”...
Source: The Health Care Blog - November 28, 2017 Category: Consumer Health News Authors: John Irvine Tags: Uncategorized Broad Institute CAD Circulation Disease Categories Gimish Model of Disease Kathiresan Khera Massachussetts General Hospital Source Type: blogs
Latest Legal Settlements Suggest Hazards of Making Pharmaceutical Regulation More Lenient, as is Apparently Favored by New FDA Leader
DiscussionAll the cases discussed above were of behavior that could have harmed patients. Many of the companies involved had records of previous ethical misadventures. While a few cases resulted in corporate guilty pleas (to misdemeanors), none resulted in monetary penalties that would have much impact on the companies ' finances, and none resulted in any negative consequences for people who enabled, authorized, directed or implemented the bad behavior.These, just the latest in the march oflegal settlements by large health care organizations, again demonstrate how often and how seriously pharmaceutical companie...
Source: Health Care Renewal - October 1, 2017 Category: Health Management Tags: adulterated drugs Celgene crime deception FDA impunity legal settlements market fundamentalism Novo Nordisk revolving doors thalidomide Source Type: blogs
Funtabulously Frivolous Friday Five 205
LITFL • Life in the Fast Lane Medical Blog
LITFL • Life in the Fast Lane Medical Blog - Emergency medicine and critical care medical education blog
Just when you thought your brain could unwind on a Friday, you realise that it would rather be challenged with some good old fashioned medical trivia FFFF…introducing Funtabulously Frivolous Friday Five 205.
Question 1
Meigs’ Syndrome resolves after removal of the tumour. What is the classic triad of Meigs’ Syndrome?
+ Reveal the Funtabulous Answer
expand(document.getElementById('ddet771338363'));expand(document.getElementById('ddetlink771338363'))
The...
Source: Life in the Fast Lane - September 15, 2017 Category: Emergency Medicine Authors: Neil Long Tags: Frivolous Friday Five allergic bronchopulmonary aspergillosis Argyll Robertson aspergilloma aspergillus Calabar extrinsic allergic alveolitis invasive aspergillosis kartagener's syndrome liver Loa loa worms Meigs syndrome ocular oa Source Type: blogs
Memo To White Nationalists From A Geneticist: Why White Purity Is A Terrible Idea
On
August 14th, UCLA researchers Aaron Panofsky and Joan Donovan presented
findings of their study, “When Genetics Challenges a Racist’s Identity: Genetic
Ancestry Testing among White Nationalists,” at a sociology
conference in Montreal. They’d analyzed 3,070 comments organized into 70
threads publicly posted to the (sometimes difficult to access) “social movement
online community” Stormfront.Former
KKK Grand Wizard Don Black launched Stormfront on March 27, 1995. Posts exceed
12 million, ramping up since the 2016 election season. Panofsky and Donovan’s
report has ...
Source: blog.bioethics.net - August 29, 2017 Category: Medical Ethics Authors: Bioethics Today Tags: Genetics Health Care Ethics and Hate syndicated Source Type: blogs
Get Ready for Multicolored MRI
Researchers at Case Western University are making MRI multicolored as a way to conduct more comprehensive and precise disease diagnosis. Introduced by Paul Lauterbur and Peter Mansfield in the 1980s, and considered “one of the greatest medical breakthroughs of the 20th century,” MRI traditionally uses one single contrast agent to illuminate images in the brain. This new technique enables radiologists to use these two contrast agents — gadolinium and manganese — to differentiate between healthy tissue a nd diseased tissue. Currently, MRI is limited to only measuring one agent at a time. However, this study utilized ...
Source: radRounds - August 25, 2017 Category: Radiology Authors: Julie Morse Source Type: blogs
