Thoughts on RNU4-2 Mutation Paper
A new preprint based on Genomics UK data has identified a set of single base insertion mutations (predominantly a specific A insertion) in a spliceosomal RNA which is responsible for about 0.5% of previously undiagnosed genetic cases of syndromic neurodevelopmental disorders . That's a remarkably high frequency mutation which has gone unnoticed to date, but the fact it was hiding in a non-protein-coding RNA (a spliceosome component called RNU4-2) had much to do with that - this gene won't be in any exome panels. The mutation always appears to be de novo and therefore the pathogenic phenotype is dominant. I&...
Source: Omics! Omics! - April 10, 2024 Category: Bioinformatics Authors: Keith Robison Source Type: blogs
What Is Genetics?
This post is the first in our miniseries on genetics. Stay tuned for more!
Genetics is the study of genes and heredity—how traits are passed from parents to children through DNA. A gene is a segment of DNA that contains instructions for building one or more molecules that help the body work. Researchers estimate that humans have about 20,000 genes, which account for about 1 percent of our DNA. The remainder of the DNA plays a role in regulating genes, and scientists are researching other potential functions.
DNA Details
Credit: NIGMS.
DNA is shaped like a twisted ladder, called a double heli...
Source: Biomedical Beat Blog - National Institute of General Medical Sciences - April 8, 2024 Category: Research Authors: Chrissa Chverchko Tags: Genes Common questions DNA Genetics Miniseries Genomics Source Type: blogs
Revolutionizing Healthcare: CareCloud ’ s Generative AI solutions Showcased at HIMSS 2024
According to Adeel Sarwar, Chief Technology Officer at CareCloud, doctors spend at least 20% of their clinical work time on administration. In this video interview, Sarwar and A. Hadi Chaudhry, Chief Executive Officer and President at CareCloud, talk about their use of AI, and now generative AI, to relieve doctors of this burden and achieve more face-to-face time with patients.
For nearly 25 years, CareCloud has offered a comprehensive health care platform combining practice management, remote patient monitoring, patient engagement, business intelligence, and preventive care. Using the enormous amounts of data gathered ove...
Source: EMR and HIPAA - April 4, 2024 Category: Information Technology Authors: John Lynn Tags: AI/Machine Learning Ambulatory C-Suite Leadership Clinical EMR-EHR Health IT Company Healthcare IT A. Hadi Chaudhry Adeel Sarwar Ambient Clinical Voice CareCloud CareCloud AI Digital AI Assistant Healthcare AI Healthcare AI Acq Source Type: blogs
The 2024 Word of the Year: Missense
By MIKE MAGEE
Not surprisingly, my nominee for “word of the year” involves AI, and specifically “the language of human biology.”
As Eliezer Yudkowski, the founder of the Machine Intelligence Research Institute and coiner of the term “friendly AI” stated in Forbes:
“Anything that could give rise to smarter-than-human intelligence—in the form of Artificial Intelligence, brain-computer interfaces, or neuroscience-based human intelligence enhancement – wins hands down beyond contest as doing the most to change the world. Nothing else is even in the same league.”
Perhaps the ...
Source: The Health Care Blog - February 13, 2024 Category: Consumer Health News Authors: matthew holt Tags: Health Tech Biology Crispr DNA Mike Magee Source Type: blogs
Want to Build A Sequencer? 454.bio Opens Up Their Plans
Just as the AGBT hype cycle was firing up (with me contributing multiple sparks), serial entrepreneur Jonathan Rothberg's latest sequencing startup 454.bio fully de-stealthed their technology this weekend, going so far as to release open source plans to build an instrument prototype. 454.bio is aiming to build a Keurig-sized device to retail for $100, with sequencing runs in the $20 range. To accomplish this, they're attempting a novel twist on sequencing-by-synthesis. It's an unconventional strategy by someone who has succeeded twice before in DNA sequencing (454 and Ion Torrent) and has multiple oth...
Source: Omics! Omics! - February 5, 2024 Category: Bioinformatics Authors: Keith Robison Source Type: blogs
AI ’ s Unforeseen Medical Discoveries: The Curious Case Of Unusual Associations
Artificial intelligence can do a plethora of astonishing things, which has been discussed thoroughly in the past year. We train models to assist medical work, from administration to image analysis, from triage to mental health support. And every now and then AI has curious medical discoveries, detecting things that – to the best of our human knowledge – should not be detectable from the input data. Like knowing the race of the patient from chest X-rays alone. These unusual associations present brand-new challenges to medical professionals.
In these cases, the medical detective work has a new aim: to understa...
Source: The Medical Futurist - November 28, 2023 Category: Information Technology Authors: Pranavsingh Dhunnoo Tags: TMF Artificial Intelligence in Medicine digital health Healthcare technology AI Source Type: blogs
Study identifies protective brain structure that delays the onset of frontotemporal dementia symptoms over 2 years
This article was originally published on The Conversation.
To Learn More:
Deep learning model built on neuroimaging data identifies “Brain Age Gaps” as markers of Alzheimer’s disease (AD)
Study: Building cognitive reserve helps delay memory and thinking decline regardless of genetic or childhood markers
The post Study identifies protective brain structure that delays the onset of frontotemporal dementia symptoms over 2 years appeared first on SharpBrains. (Source: SharpBrains)
Source: SharpBrains - November 17, 2023 Category: Neuroscience Authors: The Conversation Tags: Brain/ Mental Health brain fold brain-reserve brain-structure Bruce Willis cognitive advantage cognitive-ability cognitive-reserve dementia frontal-lobes frontotemporal dementia paracingulate sulcus Source Type: blogs
Weekly Roundup – November 11, 2023
Welcome to our Healthcare IT Today Weekly Roundup. Each week, we’ll be providing a look back at the articles we posted and why they’re important to the healthcare IT community. We hope this gives you a chance to catch up on anything you may have missed during the week.
American Telemedicine Association Leaps Into Privacy and AI Policies. Andy Oram talked to Kyle Zebley about how the ATA aims to be the voice of the telehealth community, in large part through its recently released sets of governing principles for AI and data privacy. Read more…
Effective Epic Application Management and Go-Live. Jennifer Stemmler ...
Source: EMR and HIPAA - November 11, 2023 Category: Information Technology Authors: Brian Eastwood Tags: Healthcare IT Healthcare IT Today Weekly Roundup Source Type: blogs
PhaseV Raises $15 Million to Push the Boundaries of ML for Clinical Trial Optimization
Clinical Trial Platform Uncovers Hidden Signals and Optimizes Next Steps for More Adaptive, Successful, and Efficient Clinical Trials
PhaseV, a pioneer in causal machine learning (ML) technology that optimizes clinical trial design and analysis, announced today that it has raised $15 million in funding, led by Viola Ventures and Exor Ventures, including participation from LionBird and a group of prominent angel investors.
A recent Deloitte study estimates the average cost of developing a single new drug at $2.3 billion in 2022, with an average 7.1-year deployment time. Moreover, the vast majority of drug candidates do...
Source: EMR and HIPAA - November 7, 2023 Category: Information Technology Authors: Healthcare IT News Tags: Health IT Company Healthcare IT Deloitte Dr. Brad Carlin Dr. Dan Goldstaub Dr. David Perry Dr. Howard Trachtman Dr. Marcia Levenstein Dr. Miriam Kidron Dr. Murray B. Urowitz Dr. Raviv Pryluk Dr. Sofia Vilar Elad Berkman Exor Vent Source Type: blogs
PicnicHealth Acquires AllStripes, Fortifying its Role as the Leader in Patient-Centered Healthcare Evidence Generation
PicnicHealth, a patient-centered healthcare evidence generation company, today announced the acquisition of AllStripes, a platform dedicated to generating evidence about the rare disease community. This strategic consolidation establishes PicnicHealth as the leading patient-centric evidence-generation partner within a rapidly evolving life sciences landscape.
PicnicHealth engages directly with patients to collect and curate comprehensive clinical data and patient-reported outcomes (PROs) to generate rich insights across patient healthcare journeys. Historically, generating such evidence has required the establishment of a ...
Source: EMR and HIPAA - November 6, 2023 Category: Information Technology Authors: Healthcare IT News Tags: Health IT Company Healthcare IT AllStripes Health IT Acquisitions Healthcare M&A Nancy Yu Noga Leviner PicnicHealth Source Type: blogs
Flurry of AI, Partnerships, and New Features Announced at Epic UGM
The theme of this year’s Epic User Group Meeting (UGM) was Castaway which was inspired by both the Tom Hank’s movie as well as earlier fare like Gilligan’s Island. A more appropriate theme may have been the Fast and Furious movies given the fast pace of announcements from senior company leaders on Day 2 of the event.
Dressed in a brightly colored “island survivor“ outfit, Epic CEO Judy Faulkner strode onto the UGM stage to deliver her keynote address to the amassed audience of 38,000 customers and employees (virtual + in-person). Her hour-long speech was packed with updates.
Generative AI
Sprinkled through Faulkn...
Source: EMR and HIPAA - August 23, 2023 Category: Information Technology Authors: Colin Hung Tags: AI/Machine Learning C-Suite Leadership EMR-EHR Health IT Company Healthcare IT Hospital - Health System #EPICUGM Abridge Epic partnership program Epic Systems Generative AI InterSystems Judy Faulkner Microsoft Nuance PressGan Source Type: blogs
Phreesia Acquires MediFind, Reinforcing its Commitment to Patient-Centered Care and Expanding its Offerings to Consumers
Phreesia, a leader in patient intake, outreach, and activation, is pleased to announce it has acquired Comsort, Inc. d/b/a MediFind (MediFind), a health technology company that uses advanced analytics to help patients—especially those with serious, chronic, and rare diseases—find better care faster.
MediFind uses machine learning and proprietary algorithms to continuously review medical information across a wide range of datasets, identifying leading doctors in specific conditions and fields based on factors such as their research output, the volume of patients, and standing among their peers. MediFind assigns four lev...
Source: EMR and HIPAA - August 3, 2023 Category: Information Technology Authors: Healthcare IT News Tags: Health IT Company Healthcare IT Chronic Care Comsort Inc. David Linetsky Health IT Acquisitions Healthcare M&A MediFind Patrick Howie Phreesia Rare Diseases Rob Weker Source Type: blogs
Eureka Health Launches with $7 Million For Patient-Led Platform To Share and Discover Better Treatments
Thousands of Members in its Long Covid Community; Expands into Metabolic Disease and Autoimmune Disorders
Eureka Health, a new community dedicated to helping chronic disease patients share experiences and discover the latest treatments, launched today to provide hope to people living with chronic diseases. Emerging from stealth with thousands already engaged in its Long Covid group, the AI-powered platform added metabolic disease, autoimmune disorders, ME/CFS, and related conditions. It will expand into other conditions in the coming weeks.
The company also announced that it has raised $7 million in funding. The seed rou...
Source: EMR and HIPAA - July 31, 2023 Category: Information Technology Authors: Healthcare IT News Tags: Health IT Company Healthcare IT 23andMe Able Partners Adina Teklu Anne Wojcicki Beren Airstone Bling Capital Bow Capital Cancer Commons Eureka Eureka Health Forward Health Health IT Funding Health IT Fundings Health IT Invest Source Type: blogs
AI-Powered Pain Relief: Interview with Claire Smith, VP at Nevro
Nevro, a medtech company based in California, has developed the HFX iQ spinal cord stimulation system, which is intended to treat chronic pain. While spinal cord stimulators can be very useful in controlling certain types of chronic pain, at present, patients must attend with their clinician to obtain adjustments to their stimulator. This is inconvenient for both patient and clinician alike.
Another common difficulty is the need for frequent adjustments. Pain is subjective, and a patient’s needs can vary from day to day, but such frequent changes in spinal cord stimulator settings are not typically possible. To addres...
Source: Medgadget - July 19, 2023 Category: Medical Devices Authors: Conn Hastings Tags: Exclusive Neurology Neurosurgery Orthopedic Surgery Pain Management Rehab back pain neurostimulation Nevro_HF10 Nevro_HFX Source Type: blogs
Fight Aging! Newsletter, June 26th 2023
This study explored the association between different cooking fuel types and the risk of cancer and all-cause mortality among seniors constructing Cox regression models. Data were obtained by linking waves of 6, 7, and 8 of the Chinese Longitudinal Healthy Longevity Survey, which included a total of 7,269 participants who were 65 years old and over. Cooking fuels were categorized as either biomass, fossil, or clean fuels. And the effects of switching cooking fuels on death risk were also investigated using Cox regression models.
The results indicate that, compared with the users of clean fuels, individuals using bio...
Source: Fight Aging! - June 25, 2023 Category: Research Authors: Reason Tags: Newsletters Source Type: blogs
