Today, we celebrate Rare Disease Day to both reflect on the progress made toward conquering rare diseases and recognize the continued unmet medical need for these devastating, complex conditions.
A rare or orphan disease is defined as affecting fewer than 200,000 people in the United States. However, with more than 7,000 rare diseases identified to date, when examined together, rare disease patients are anything but rare. According to the National Institutes of Health (NIH), 30 million Americans, or 10 percent of the population, have a rare disease.
Patients with rare disease have seen significant advances in recent years. The Orphan Drug Act (ODA) has been instrumental in driving innovation for the treatment of rare diseases and increasing rare disease research. Since ODA passed in 1983, more than 600 orphan drugs and biological products have been approved in the United States. In recent years, groundbreaking therapies have included:
- The first treatments directed at treating the underlying causes of cystic fibrosis.
- New medicines that can prevent or slow the impact of extremely rare, devastating conditions including pulmonary arterial hypertension, hereditary angioedema and Gaucher disease.
- The first therapies available to treat rare pediatric diseases, including a progressive, metabolic disease called hypophosphatasia (HPP), an inherited genetic disease called lysosomal acid lipase (LAL) deficiency, and neuroblastoma, a rare form of cancer that occurs in nerve cells and the brain.
While these advances have been very impactful, there remains tremendous unmet need, as only five percent of rare diseases have an approved treatment option. Developing treatments for these diseases is a challenge due to the complex biology of the diseases and inherently small patient populations, making it difficult for researchers to design and implement a drug development program and conduct clinical trials.
The biopharmaceutical industry is committed to overcoming these challenges and advancing new medicines for the millions of patients with rare diseases. The biopharmaceutical pipeline contains thousands of significant and innovative new treatments with the potential to address rare diseases. In fact, the recent report, “The Biopharmaceutical Pipeline: Innovative Therapies in Clinical Development,” found that 822 projects are designated by the FDA as orphan drugs, and are currently in clinical development or regulatory review.
Andrew Powaleny
Andrew Powaleny is the Deputy Vice President of Public Affairs at PhRMA, where he leads communications on scientific, regulatory and intellectual property issues, highlighting the biopharmaceutical industry’s efforts in developing innovative medicines and vaccines while promoting an environment that encourages necessary risk-taking. For five years starting in 2019, he launched and led PhRMA’s grassroots initiative, Voters for Cures, bringing patients and caregivers together to advocate for access to medicine and biopharmaceutical innovation. He also co-founded and co-chaired PRIDE Umbrella, a resource group for LGBTQ+ individuals. Prior to joining PhRMA in 2015, Andrew worked as a communications consultant in Washington, D.C., and as Deputy Press Secretary for the U.S. House Committee on Energy and Commerce under Chairman Fred Upton. He holds a degree in public policy and government from Eastern Connecticut State University, with a minor in music. Outside of work, Andrew enjoys exercise, musical theater and mentoring college students through The Fund for American Studies alumni association.
Andrew Powaleny
Mass compounding puts patients at risk
World Sickle Cell Day: Recognizing the promise of gene therapy
Celebrating rare disease innovation: Progress and the path forward
Advancing patient care: A look at new medicines approved in 2025
Knockoffs of FDA-approved drugs put patients at risk
PDUFA: Essential to America’s edge in drug development and patient access
4 things to know on Rare Disease Day
Major drug compounder is spending millions on misleading Super Bowl ad
Preventing and fighting disease: A look at the biopharmaceutical progress made for patients in 2024
More oversight needed of unapproved medicines that threaten patients’ health
The use of real-world data in drug development
New analysis: Accelerated approval pathway is changing lives in underserved communities
Watch: A conversation with Dr. Mike Ybarra on Rare Disease Day
Novel treatments and vaccines approved for U.S. patients in 2023 reach five-year high
Florida’s importation plan puts patients in danger
The Biopharmaceutical Industry Still Needs Clarity from the FDA on Orange Book Listings
Don't close the door on rare disease research
Decentralized clinical trials and the future of drug development
New report shows how the Inflation Reduction Act stifles innovation for small molecule medicines
How FDA’s modernization strategy could improve drug development
Setting the record straight on accelerated approval
FDA should remain the authority on the safety and effectiveness of medicines
Celebrating 40 years of the Orphan Drug Act on Rare Disease Day
What you should know about real-world evidence and drug development
Three things to know about the accelerated approval pathway
PDUFA and BsUFA reauthorizations are wins for patients
Recognizing National Sickle Cell Awareness Month
Word of the Month: Biomarkers and surrogate endpoints
Gene therapies can reduce treatment burden and costs for patients with blood disorders
Ensuring timely reauthorization of PDUFA and BsUFA
The accelerated approval pathway: Helping patients with serious or life-threatening diseases
Biopharmaceutical research and development has ushered in a decade of innovation in rare disease
The importance of timely PDUFA and BsUFA reauthorization
ICYMI: New approvals by the FDA in 2021 offer greater treatment options for patients
New Report: Nearly 800 new medicines in development to treat rare diseases
3 things to know about the importance of post-approval research and development
Biosimilar User Fee Act (III) Performance Goals Letter will help increase options for patients and promote competition
Meeting Tomorrow: Looking ahead to PDUFA VII
The impact of monoclonal antibodies and COVID-19 recovery
PDUFA VII is critical for future biopharmaceutical innovation and for patients
How strengthening the biosimilar marketplace benefits patients
The FDA Office of Minority Health and Health Equity: Working to advance health equity through diversity in research
2020 FDA approvals show innovation despite COVID-19 pandemic challenges
Report: More than 1,300 medicines and vaccines in development to help fight cancer
New report shows more than 400 medicines and vaccines in development to tackle infectious diseases, including COVID-19
New report explores setbacks that bring future cancer success stories
What scientific experts are saying about vaccine safety
New report shows nearly 260 vaccines in development, including dozens for COVID-19
Nearly 400 cell and gene therapies in development to target a broad range of diseases
Rare Disease Day 2020: Progress toward cures
ICYMI: 2019 brings innovative medicines to patients
PhRMA comments to Congress on Cures 2.0 call to action
Speaker Pelosi’s drug pricing plan could result in 56 fewer new medicines over 10 years
Pelosi’s radical plan would leave patients with sickle cell disease behind
Pelosi’s radical plan would leave patients with rare pediatric diseases behind
Nearly 140 medicines in development to treat mental illness
ICYMI: Fighting for a cure to ALS
New report finds 15 new oncology therapies launched last year
Guest Post: Using the patient voice to go boldly
IP Explained: How Hatch-Waxman successfully balances affordability and innovation
Clinical Trials Awareness Week: Celebrating innovation in clinical research
Event: New era of medicine comes to Capitol Hill
New report shows more than 160 medicines in development for diabetes and related conditions
Minority health matters
New report shows nearly 20 innovative medicines in development for sickle cell disease
Guest post: Hearing from patients on Rare Disease Day
Rare Disease Day: Unmet medical need inspires biopharmaceutical innovation
130 medicines in development for asthma, allergies and other respiratory diseases
130 medicines in development for asthma, allergies and other respiratory diseases
Why state drug importation pilot programs don’t work
Putting 2018 medicine approvals in context
FDA needs best and brightest to advance a new era of medicine with America’s biopharmaceutical companies
Balancing innovation and competition in the biologics marketplace
Disrupting Alzheimer's
Aspen Spotlight Health: Discussing the forefront of innovation
Nearly 60 biopharmaceutical researchers GoBoldly on Capitol Hill
New analysis shows that more medicines worldwide are available to U.S. patients
New report and resources put cancer in context, showing more than 1,100 medicines and vaccines in development
ICYMI: Orphan drug development brings unique challenges
Video: PhRMA CEO discusses biopharmaceutical supply chain at POLITICO event
Spending on medicines grew less than one percent in 2017
Record number of personalized medicines approved in 2017
Innovation comes in many forms, including new and expanded uses of existing medicines
ICYMI: Why 2017 medicine approvals matter
New surveys find payers and providers want more data from biopharmaceutical companies
Supporting opportunities for enhanced competition in the marketplace
New report and event examine the new era of vaccines
A new era in cancer
VIDEO: PhRMA CEO discusses industry response to opioid crisis on Mornings with Maria
How biopharmaceutical collaboration is driving a new era of medicine
Putting the bio in biotech: How Bay Area minds are powering biopharmaceutical innovation
Opportunities to build upon enhanced competition for medicines in the marketplace
Finding cures for incurable diseases
New report portrays flourishing pipeline
Why reauthorization of PDUFA matters
Going boldly together: New advancements and new anniversaries
Examining the brain in The New Era of Medicine
A critical opportunity to prevent prescription drug abuse
More than 240 immuno-oncology treatments in development to fight cancer
A New World of Medicine: New GOBOLDLY ads showcase groundbreaking scientific advancements
ICYMI: The New Era of Medicine initiative spotlights genomics in NYC
A new era in genomics
Guest Post: The importance of a modern FDA in drug discovery
Guest Post: Debra of America on Epidermolysis Bullosa
Guest Post: Room for optimism in ALS research
Guest Post: A Cure for Ellie on Leukodystrophy-LBSL
Guest Post: Epilepsy Foundation on rare diseases
Rare Disease Day: Accelerating innovation for patients in need
ICYMI: New era of medicine initiative kicks off in Boston
Exploring the new era of medicine
Guest Post: Johnson and Johnson is celebrating outstanding scientists: Who will be next?
This is not a video game: New TV ad showcases the destruction of a cancer cell by immune system
VIDEO: PhRMA CEO discusses #GOBOLDLY campaign and White House meeting with CNNMoney’s Maggie Lake
VIDEO: PhRMA CEO joins CNBC’s Squawk on the Street to discuss industry campaign #GOBOLDLY
The 20-year journey yielding a new weapon against cancer
Significant progress fighting cancer: Death rate has dropped 25 percent
Rare Disease Day: Unmet need inspires innovation
FDA
New Era of Medicine
Personalized Medicine
Rare Diseases
Rare Disease Day: Unmet need inspires innovation
Rare Disease Day: Unmet need inspires innovation