Boosting Rare Disease Research with Machine Learning
Dec. 12 2023
Machine Learning Speeds Up Rare Disease Diagnosis and Drug Development
Jineta Banerjee of Sage Bionetworks is excited about what machine learning can do for rare disease diagnoses and treatment, but wants journalists to bring skepticism, too.
Preparing for Rare Disease Day 2024
Dec. 11 2023
For the 2024 Leap Year, There’s an Extra Day for Journalists to Develop Rare Disease Stories
Lisa Sarfaty of NORD and Lindsey Smith of Osmosis from Elsevier encourage journalists to use their organizations’ resources to connect with patients and develop stories.
The Goal and Success for Renewed European Rare Disease Policy
Dec. 11 2023
The 2009 Recommendation Helped Establish the European Reference Networks
Rare 2030 guides the next set of recommendations on rare disease policy in Europe, says Orphanet’s Charlotte Rodwell.
FDA Approves CRISPR Gene Therapy for Sickle Cell Disease
Dec. 08 2023
FDA’s Peter Marks Has Final Regulatory Say on Genomic Therapies
Peter Marks, director of the FDA’s Center for Biologics Evaluation and Research, spoke to NPF journalism fellows about how gene therapies – such as the gene-editing technology CRISPR – are regulated.
Making The Case for Newborn Screening
Dec. 07 2023
Can More Access to Testing Provide Faster Answers for Families?
The rare disease diagnostic odyssey often begins at birth. A journalist, a health care advocate and a biotech executive unpack the potential of newborn screening.
Breaking the Chains of Inherited Rare Diseases
Dec. 05 2023
Exploring Shared Biological Mechanisms Could Unlock Cures in Rare Disease Research
Anna Greka’s Broad Institute research identifies scalable tools to address as many rare diseases as possible, to end the burden of complex inherited conditions.
CHOP Professor Breaks Down Gene Therapy for Journalists
Nov. 27 2023
Innovative Gene Editing Can Treat Blood Disorders
Researchers focusing on blood disorders have a significant edge when developing rare disease therapies, says Stefano Rivella of the RNA Gene Therapeutics Group.
Fueling Diversity in Rare Disease Research
Nov. 21 2023
Equity and Access Have Not Been Priorities in Rare Disease Research – That’s Changing
The Rare Disease Diversity Coalition is advocating for patients of color, said NORD’s Debbie Drell and Linda Goler Blount of the Black Women’s Health Imperative.
When Rare Disease Patients Search Online, What Journalism Do They Find?
Nov. 17 2023
‘We Can’t Do This One Disease at a Time’
Journalists can inform and empower rare disease patients, said Eric Sid of the NIH’s GARD Information Center.
The Orphan Drug Act at 40
Nov. 17 2023
Over 800 Approved Orphan Indications Since the 1983 Orphan Drug Act Passage
Four decades of Orphan Drug Act momentum amplifies the need for broader access to treatment of rare diseases, say NORD’s Karin Hoelzer and Fondation Ipsen’s James Levine.
Conquering Sickle Cell with CRISPR: Victoria Gray’s Story
Nov. 17 2023
Rare Disease Patient Embodies Remarkable Promise of Gene Therapy
As the first sickle cell patient treated with CRISPR, Victoria Gray moved from agonizing pain toward an astonishing cure. Ghanaian journalist Portia Gabor relishes telling stories like hers.
Reporting Fueled By Passion and Compassion
Jan. 11 2023
Patience and Empathy Are Key Ingredients For Impactful Rare Disease Coverage
Earning the trust of families and patients fuels impactful reporting, said journalists Rob Stein of NPR and Elizabeth Merab of Nation Media Group Kenya.
Rare Disease Through the Ethics and Equity Lens
Nov. 29 2022
Beneficial Rare Disease Research and Treatments Must Reach All Who Need Them
True progress in rare disease research will mean more access and inclusion in studies and treatment for marginalized groups, leading academic researchers said.
Geography Matters in Rare Disease Research
Nov. 07 2022
Access and Genomic Resources are Scarce in Many Regions of the World
Journalists should balance perspectives to paint an authentic picture, genomics researchers advise.
Explosive Growth in Rare Disease Treatments
Nov. 07 2022
Molecules that used to be identified in test tubes are now discovered by computers.
Bringing rare disease drugs to market used to take 20 years. Now an “explosion of advancement” promises a faster pipeline, a senior NIH bone researcher explains.
Saluting Rare Disease Heroes
Nov. 01 2022
Journalists Are the Experts in Amplifying Rare Disease Journeys
Scientists may analyze rare diseases, but only journalists can amplify the realities for patients and families, Fondation Ipsen President James Levine said.
The Future Looks Bright
Nov. 01 2022
10 Therapies Are FDA Approved, Research Advances Suggest More to Come
A “robust global pipeline” of gene therapy treatments raises hope for rare diseases patients, U.S. Food and Drug Administration’s Peter Marks said.
Empowering Rare Disease Patients Through Advocacy and Counseling
Oct. 31 2022
Helping Journalists Tell Stories That Humanize Rare Disease Patients
Rare disease patients and journalists can learn and benefit from each other. Experts in genetic counseling and advocacy explain how.
Confronting Barriers to Rare Disease Treatment
Oct. 28 2022
Rare Disease Research Needs More Empathy and Respect for Patient Challenges
The extraordinary potential for rare research advances is often stymied by issues of access and regulation, says Ultragenyx President and CEO Emil Kakkis.
Improving Diagnosis of Rare Disorders
Oct. 26 2022
The Undiagnosed Diseases Network Pushes for Answers
Families know there are many more rare diseases than those already identified. The Undiagnosed Diseases Network is closing the knowledge gap, helping more families find answers.
The Future is Now in Rare Disease Research
Oct. 26 2022
Genomic Advances Signal Great Promise for Rare Disease Research
Advances in genomic research could lead to better rare disease treatments, NHGRI Director Eric Green says.
Newborn Screening, Genetic Testing Varies by State
Oct. 24 2022
How Reporters Can Cover Inequity in Rare Disease Diagnosis
Many journalists know newborns are screened for rare diseases, but may not realize the “death by zip code” phenomenon.
NBC’s Richard Engel on Battling Rare Disease
Oct. 21 2022
A War Correspondent Reports the Ultimate Loss: His Child’s Death from a Rare Disease
Lead with empathy, advises Richard Engel. After the death of his son Henry, he urges more attention to rare diseases. They turn out to be not so rare.
Does Poverty Affect Human Epigenetics?
Feb. 25 2022
Or Vice Versa?
While TikTok videos about epigenetics and trauma rack up millions of likes, the science continues to evolve.
Diversity Elusive in Rare Disease Research
Dec. 20 2021
African Americans underrepresented in research and clinical trials
Historical discrimination, malpractice and lingering mistrust block the path to significant diversity in rare disease research
Covering Rare Diseases with Sensitivity
Dec. 08 2021
Patients with rare diseases are much more than their conditions
An editor offers tips on phrases to avoid – and stories to cover. A father explains how patient advocacy led to new gene therapies.
AI Driving Breakthroughs on Rare Diseases
Sept. 30 2021
Deep Learning, Genomics Spur Advances in Understanding and Hope for Treatment
But journalists should also focus on regulation of the AI and electronic medical records that underlie biotech gains.
Governments Spur Rare Disease Treatments
Sept. 28 2021
US and EU Laws Have Led to Rare Disease Gains
In the U.S., the Orphan Drug Act incentivizes drugmakers to develop drugs for rare disease patients, including 31 in 2020.
Rare Diseases: A Global Challenge
Sept. 27 2021
When Each Nation Has Few Cases of Each Disease, Collaboration Is Key
From Ghana to Australia, rare disease researchers and patient groups prod their governments to action — and international cooperation.
Covering Rare Diseases with Sensitivity (for fellows)
Sept. 24 2021
Nearly 8% of the world’s population — 350 million people — have a rare disease. But diagnosis and treatment are advancing.
Rare Diseases: Small Numbers, Big Problem
Sept. 22 2021
They Escape Notice, but ‘Rare’ Diseases Are Anything But
Nearly 8% of the world’s population — 350 million people — have a rare disease. But diagnosis and treatment are advancing.
Real-World Evidence is Changing Medicine
Aug. 03 2021
Journalists Need to Understand Uses and Shortcomings
As the FDA allows more big data for drug and device approvals, top researchers share studies that show its potential — and flaws. One drug-safety expert warns against abandoning the randomized controlled trial.
Real-World Evidence: How Big Data is Changing Scientific Standards
July 26 2021
How Should the FDA – and Journalists – Decide What Scientific Evidence Is Good Enough?
Randomized clinical trials have long been the gold standard for drug and device approvals. Now Big Data powers “real-world evidence” that plays a growing role in medical decisions and FDA approvals.
The Science of Fighting Poverty
Oct. 18 2020
Nobel Laureate Abhijit Banerjee: Lessons for America on Fighting Poverty
The randomized controlled trial is a mainstay of medical research, but Banerjee was the first to apply it to the study of poverty reduction. His lessons from around the world about what works.
The Race for a Coronavirus Vaccine
April 03 2020
A Leading Research Center Explains How Vaccines – Including for COVID-19 – are Created and Tested
Experts at the University of Maryland have long been involved in developing vaccines for emerging diseases. Now they are at work on one for coronavirus.
Scientific Spin
Oct. 28 2019
How Research Can Be Distorted
Scientific research often goes unpublished – and what is published is often spun hard.
How to Write About Vaccine Deniers
Oct. 24 2019
Covering Vaccine Hesitancy
Researcher cautions reporters against “falsely balanced reporting” on vaccine hesitancy.
The Science of Science Communication
Oct. 24 2019
How Can Scientists Better Communicate with Non-Science Audiences
When a ‘100-year flood’ means very different things to different people.
Single Cell Technology
Oct. 24 2019
How New Technologies Help Scientists Understand Cancer
At the famed Curie Institute in Paris, researchers are going small to understand – and develop interventions for – cancer.
Addressing Health Inequalities
Oct. 23 2019
Trying to Ease the Social Determinants of Health
Can public health officials do anything to eliminate the vast differences in health by community or income?
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