rare diseases | ResearchBuzz: Firehose

March 22, 2023

National Library of Medicine: Data Science Tools Will Speed Rare Disease Solutions

National Library of Medicine: Data Science Tools Will Speed Rare Disease Solutions. “Data-driven innovations are unlocking answers about rare diseases—as well as more common diseases—faster than ever before, and that’s why data science is so important to NCATS’ vision of more treatments for all people more quickly. One of our key strategies is to leverage or connect existing data in new and meaningful ways. This year’s Rare Disease Day at NIH event highlighted several ways NCATS is applying this approach to help address the public health challenge of rare diseases.”

October 20, 2022

Harvard Medical School: How AI Can Help Diagnose Rare Diseases

Harvard Medical School: How AI Can Help Diagnose Rare Diseases. “Rare diseases are often difficult to diagnose, and predicting the best course of treatment can be challenging for clinicians. To help address these challenges, investigators from the Mahmood Lab at Harvard Medical School and Brigham and Women’s Hospital have developed a deep- learning algorithm that can teach itself to learn features that can then be used to find similar cases in large pathology image repositories.”

Research & Opinion 0

March 1, 2022

WIRED: Dependent on Facebook Groups? Here’s How to Break Free

WIRED: Dependent on Facebook Groups? Here’s How to Break Free. “In this group, and other similar Facebook groups I belong to, people ask for extra vials of insulin, a spare continuous glucose monitor, supplies that will help their children survive until morning and beyond. I don’t know what I would do without these circles that I go to daily for input from more experienced parents of kids with type 1 diabetes, and, occasionally, simply to express sadness that my son has to struggle with this disease. Complicating my reliance on Facebook groups is the unfortunate fact that I, like many others, have serious issues with Facebook, Meta, and Mark Zuckerberg.”

Around the Search & Social Media World 0

June 1, 2021

UPI: Massive data-sharing effort to help doctors diagnose rare diseases across Europe

UPI: Massive data-sharing effort to help doctors diagnose rare diseases across Europe. “Doctors and medical researchers in Europe have undertaken a massive data-sharing project they hope will aid the diagnosis of rare disease. In a series of papers, published Tuesday in the European Journal of Human Genetics, researchers demonstrated how reanalysis of genomic and phenotypic data from patients with rare diseases — when combined with wide-scale data sharing — can increased the odds of accurate diagnosis.”

Research & Opinion 0

May 9, 2020

National Institutes of Health: NIH-supported research survey to examine impact of COVID-19 on rare diseases community

National Institutes of Health: NIH-supported research survey to examine impact of COVID-19 on rare diseases community. “For the millions of people living with a rare disease, the novel coronavirus disease COVID-19 presents challenges, from potential reduced access to needed medical care to possible heightened anxiety and stress. A new online survey launched by the National Institutes of Health-supported Rare Diseases Clinical Research Network (RDCRN) aims to find out how the COVID-19 pandemic is impacting individuals with rare diseases, their families and their caregivers. Results will help the rare disease research community shed light on the needs of people with rare diseases during the COVID-19 pandemic and other potential health crises, in addition to informing future research efforts.”

COVID-19 0

February 15, 2020

Titan Voice: Building online community and research database for families dealing with rare Blau Syndrome (Orange County Register)

Orange County Register: Titan Voice: Building online community and research database for families dealing with rare Blau Syndrome . “I was given a task to create a research database of journal articles involving Blau Syndrome. Prior to my creation of one, no research database existed for doctors, families, potential researchers, or individuals with Blau Syndrome. The database now contains nearly 60 peer-reviewed research articles on Blau Syndrome.”

Research & Opinion 0

October 29, 2019

Drugs .com: New Database Shows ‘Rare’ Diseases Are Not So Rare Worldwide

Drugs .com: New Database Shows ‘Rare’ Diseases Are Not So Rare Worldwide. “A disease is considered rare when it affects fewer than five in 10,000 people, according to a European definition. Until now, it’s been difficult to gauge how widespread rare diseases are. But a team led by a French research institute has analyzed the scientific literature on thousands of rare diseases and created a database that makes it possible to estimate how many people worldwide have them.”

New Resources 0

March 14, 2018

Sixth Tone: China to Build Gene Database for Diagnosing Rare Diseases

Sixth Tone: China to Build Gene Database for Diagnosing Rare Diseases. “China launched its first major project aimed at diagnosing rare children’s diseases on Saturday. The country’s pediatric experts will use a technique called whole genome sequencing (WGS) to begin building a database of rare and undiagnosed conditions, including mental disorders and physical deformities.”

Research & Opinion 0

November 3, 2017

FDA: FDA Widens Scope of Navigator – Information Tool for Expanded Access

FDA: FDA Widens Scope of Navigator – Information Tool for Expanded Access. “FDA is committed to expanding access to safe and effective treatment options for patients with rare, debilitating, and sometimes fatal diseases. These patients face unique medical challenges. Sometimes there isn’t an FDA-approved drug to adequately address the needs of a patient with a rare disease. Therefore, the agency needs to take new steps to enable more patients with unmet needs to get access to promising treatments prior to full FDA approval. Two examples of the recent steps FDA has taken in pursuit of these goals are improvements we made to our Expanded Access Program and our Orphan Drug Program.”

Tweaks & Updates 0

National Library of Medicine: Data Science Tools Will Speed Rare Disease Solutions

Harvard Medical School: How AI Can Help Diagnose Rare Diseases

National Institutes of Health: NIH-supported research survey to examine impact of COVID-19 on rare diseases community

Titan Voice: Building online community and research database for families dealing with rare Blau Syndrome (Orange County Register)

Drugs .com: New Database Shows ‘Rare’ Diseases Are Not So Rare Worldwide

Sixth Tone: China to Build Gene Database for Diagnosing Rare Diseases

FDA: FDA Widens Scope of Navigator – Information Tool for Expanded Access

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