How Technology Can Help Overcome Barriers to Getting Effective Therapies into Patients with Ultra Rare Disorders
The following is a guest article by Dr. Zach Landman, Co-Founder of Moonshots for Unicorns.
As a physician who trained at UCSF, Harvard, and Stanford, I assumed that when my youngest daughter, Lucy – at 10-months old – was diagnosed with an ultra-rare genetic disorder of glycosylation called PGAP3, the answers would reside within a hospital or academic laboratory.
Unfortunately, my pediatrician wife and I were told that our smiling, seemingly healthy babbling 10-month-old baby would likely never walk normally, never talk, and was likely to develop severe and refractory seizures at some point in her childhood. ...
Source: EMR and HIPAA - September 27, 2022 Category: Information Technology Authors: Guest Author Tags: Clinical Healthcare IT AAV9 ASO CRISPR Dr. Zach Landman epalrestat Gene Therapy Invitae Patient Stories Patients Perlara PGAP3 PMM2 PRAX-222 Rare Diseases SCN2A SMA-1 Source Type: blogs
Weekly Roundup – September 17, 2022
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.
Analytics Will Help Amazon (Eventually) Benefit From the One Medical Acquisition. Andy Oram talked to Imprivata CEO Gus Malezis about the role of patient data harmonization and AI-powered analytics in helping Amazon capitalize on its One Medical buy – and why it will take at least five years for Amazon to put it all together. Read more…
Givin...
Source: EMR and HIPAA - September 17, 2022 Category: Information Technology Authors: Brian Eastwood Tags: Healthcare IT Healthcare IT Today Weekly Roundup Source Type: blogs
Weekly Overseas Health IT Links –17th September, 2022.
This study adds to the evidence showing that expanded access to these services could have a longer-term positive impact if continued.”Roughly 1 in 8 beneficiaries in the pandemic group received OUD-related telehealth services compared with 1 in 800 in the prepandemic group, the research revealed. Access to telehealth services was associated with better treatment retention and lower risk of medically treated overdose in the pandemic group compared to those not receiving telehealth services.-----https://healthimaging.com/topics/management/education-training/ai-deterring-students-pursuing-radiologyConcerns about the future ...
Source: Australian Health Information Technology - September 17, 2022 Category: Information Technology Authors: Dr David G More MB PhD Source Type: blogs
Hearing Patients and Their Caregivers First Hand at the RARE Patient Advocacy Summit
Kind of on a whim I decided to head to San Diego (a great place for whimsical travel) for the RARE Patient Advocacy Summit by Global Genes. To be fair, Effie Parks from Once Upon a Gene Podcast had told me about it before and I’d been on the fence on whether I should go or not. Some other friends chimed in about being in San Diego as well, and I decided to last minute attend the event.
I’ll admit that as an IT person focused on health IT, I initially felt like a fish out of water. Luckily, I bumped into a number of amazing patient advocates (@rarelikeher and @BarbyIngle) and caregivers (@EMoriartyWade) I&...
Source: EMR and HIPAA - September 15, 2022 Category: Information Technology Authors: John Lynn Tags: C-Suite Leadership Clinical Communication and Patient Experience Healthcare IT Barby Ingle Caregivers Effie Parks Erin Moriarty Wade Global Genes Once Upon a Gene Patient Conferences Patients Rare Disease Rare Disease Conferences Source Type: blogs
PicnicHealth Raises a $60m Series C to Expand Patient-centered Real-world Data
PicnicHealth, a patient-centered health technology company, today announced the closing of a $60 million Series C financing led by new investor B Capital Group. Existing investors Felicis Ventures and Amplify Partners also joined the round, bringing the total PicnicHealth has raised to more than $100 million. The company also announced plans to build 30 new patient-centered real-world data cohorts, and the addition of Adam Seabrook, Partner at B Capital Group, to the PicnicHealth board of directors.
PicnicHealth takes a patient-centered approach to building deep real-world datasets for life sciences researchers. This compl...
Source: EMR and HIPAA - July 1, 2022 Category: Information Technology Authors: Healthcare IT News Tags: Analytics/Big Data Health IT Company Healthcare IT Adam Seabrook Amplify Partner B Capital Group Felicis Ventures Health IT Funding Health IT Fundings Health IT Investment Noga Leviner PicnicHealth Real-World Data Robert Mittendo Source Type: blogs
AI Adoption in Healthcare Requires Better Approaches to Patient Data
The following is a guest article by Vanessa Braunstein, Healthcare Product Marketing Lead at NVIDIA.
Building great AI models in healthcare and life sciences requires lots of data that is diverse, well-labeled, and spans across different patient types.
However, as AI gains traction, there are still a number of bottlenecks that slow down the process of developing robust AI models such as patient privacy, access to data, and lack of clinical expertise to annotate data for training.
In order to overcome these barriers, data scientists and developers have developed new solutions such as federated learning paradigms, AI models ...
Source: EMR and HIPAA - June 28, 2022 Category: Information Technology Authors: Guest Author Tags: AI/Machine Learning Analytics/Big Data C-Suite Leadership Health IT Company Healthcare IT Hospital - Health System Federated Learning GDPR Health Data Ethics Health Data Privacy Healthcare AI Healthcare AI Ethics Healthcare Neural Source Type: blogs
In Other Words: How Cells Express Themselves
When you encounter the word expression, you may think of a smile, a grimace, or another look on someone’s face. But when biologists talk about expression, they typically mean the process of gene expression—when the information in a gene directs protein synthesis. Proteins are essential for virtually every process in the human body.
Credit: NIGMS.
How to Build a Protein
Gene expression has two main steps: transcription and translation. In transcription, RNA polymerase separates a section of double-stranded DNA to access a gene. Then it copies the information from the gene to create ...
Source: Biomedical Beat Blog - National Institute of General Medical Sciences - June 15, 2022 Category: Research Authors: Chrissa Chverchko Tags: Cells Genes Cellular Processes DNA In Other Words Proteins Source Type: blogs
Ultima Genomics Storms Out Of Stealth Promising $1/Gigabase Short Reads
To date, the new entrants targeting Illumina ’s short read business have been aiming at the middle of Illumina’s range, trying to take on NextSeq. Element Biosciences is touting high accuracy for a low price. Omniome (now PacBio) alsohas positioned itself to tout accuracy. Singular Genomics is claiming to enable great flexibility and fast runs. But all aimed at NextSeq. As part of the run up to AGBT another company is decloaking from stealth mode: Ultima Genomics, however they are going not after NextSeq but full throttle after Illumina’s pinnacle, the NovaSe q running the S4 flowcell. The value proposit...
Source: Omics! Omics! - May 31, 2022 Category: Bioinformatics Authors: Keith Robison Source Type: blogs
What Do You Mean, “Innovation”?
BY KIM BELLARD
One of my favorite movies is The Princess Bride. Among the many great quotes is one from Inigo Montoya, who becomes frustrated when the evil Vizzini keeps using “inconceivable” to describe events that were clearly actually taking place. “You keep using that word,” Inigo finally says. “I do not think it means what you think it means.”
So it is for most of us with the word “innovation” – especially in healthcare.
What started thinking me about this is an opinion piece by Alex Amouyel: Innovation Doesn’t Mean What You Think It Does. Ms. Amouyel is the Executive Director of Sol...
Source: The Health Care Blog - May 17, 2022 Category: Consumer Health News Authors: matthew holt Tags: Hack-a-thon Health Policy Health Tech Alex Amouyel Innovation Kim Bellard Princess Bride Solve Source Type: blogs
The Sovereignty Network will help patients make money out of your health data
By HAMISH MACDONALD
Being a patient has always meant being at the bottom of a trickle-down pyramid in healthcare. Late to get information, our test results, our data, and as for earning the money that our healthcare data is worth – that is something the healthcare industry does without our permission or dues. We are left right out of that.
But what if we made clinical data tools available on your device, so that you could build the most valuable set of healthcare data that exists about you anywhere? What if you owned that particular data set as your personal asset? Well, we think that researchers are going to...
Source: The Health Care Blog - May 16, 2022 Category: Consumer Health News Authors: matthew holt Tags: Data Health Tech Hamish MacDonald Health Data Privacy The Sovereignty Network Source Type: blogs
Repositioning for Rare Diseases – Too Much, Too Little or Just Right?
Jakob Wested (University of Copenhagen), John Liddicoat (University of Cambridge), Repositioning for Rare Diseases – Too Much, Too Little or Just Right?, Nordic Intell. Prop. L. Rev. (2021): “Drug repositioning” refers to the idea of expanding the use of an... (Source: HealthLawProf Blog)
Source: HealthLawProf Blog - May 15, 2022 Category: Medical Law Authors: Katharine Van Tassel Source Type: blogs
The Future Of Vision And Eye Care
3D printed digital contact lenses, bionic eye implants, augmented reality: the future of vision and eye care is full of science fiction-sounding innovations. Here is where digital health will take ophthalmology in the future!
More than 80 percent of perception comes through vision
Researchers estimate that 80-85 percent of our perception, learning, cognition, and activities are mediated through vision. Compared to that, our hearing only processes 11 percent of information, while smell 3.5 percent, touch 1.5 percent and taste 1 percent. Don’t you think that’s possible? Renowned scholars, L.D. Ros...
Source: The Medical Futurist - May 10, 2022 Category: Information Technology Authors: berci.mesko Tags: Augmented Reality Cyborgization 3d printing AI diabetes digital digital health future guide Healthcare Innovation Personalized medicine technology vision eye care ophthalmology Source Type: blogs
Element Unveils AVITI
Element Biosciences is launching their AVITI sequencing system today in a blitz of events. At February’s end they flew me out to visit their San Diego facility and gave me quite amazing access to senior staff, Board of Directors members for an entire day of discussions. They even videotaped me! Many of those discussions got deep into technical weeds in a most enjoyable manner. But for those wishing to jump straight to key details, AVITI is a desktop instrument priced at $289K, a bit below NextSeq 2000, which can run two flowcells entirely independently; two sequencers for the space and outlay of one. At a cost o...
Source: Omics! Omics! - March 14, 2022 Category: Bioinformatics Authors: Keith Robison Source Type: blogs
England Rare Diseases Action Plan 2022
Department of Health and Social Care (DHSC) The UK government and devolved administrations published the UK Rare Diseases Framework in January 2021, setting out a shared vision for addressing health inequalities and improving the lives of people living with rare diseases across the UK. Each each of the four UK nations committed to developing nation-specific action plans detailing how these priorities will be addressed. This is the first action plan setting out how the DHSC and delivery partners will implement the framework in England.Action planMore detail (Source: Health Management Specialist Library)
Source: Health Management Specialist Library - February 28, 2022 Category: UK Health Authors: The King ' s Fund Library Tags: Quality of care and clinical outcomes Source Type: blogs
