Learn
Explore our list of resources
Depending on your rare disease journey, Global Genes provides you with the resource and community to enhance your learning.
Featured
Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey
As scientific innovation in genomic medicine continues to provide more hope for therapeutic options, there is a […]
Read moreA Case for Whole Genome Sequencing
The ability to diagnose rare genetic diseases through the use of genetic sequencing has improved to a […]
Read moreAdvances in Rare Immunological Diseases
Recent advances in rare immunological diseases have raised the exciting potential of cures for some disorders. Hear […]
Read moreDevelopmental Delays After Factor V Leiden Pregnancy
by Tiffany Burnette I was diagnosed with Factor V Leiden when I was pregnant with Sammy. While […]
Read morePatient Stories
A Glimpse into the Life of a CSF Leaker
I became ill with a cerebrospinal (CSF) leak, and it has taken years of waiting while neurosurgeons […]
Read moreRarest of Rare
Our son was diagnosed with 17Q12 deletion right at birth because they found cysts on his kidneys. […]
Read moreRARE Global Advocacy Alliance Member Spotlight: Robert Sanchez
Robert Sanchez Organization Name Miracle Flights Disease Affiliation Rare Disease and All Medical Conditions Organization Mission We […]
Read moreElijah Defying All of the Trisomy 18 Odds
March is Trisomy Awareness Month. March 18 is Trisomy 18 Awareness Day. It was chosen specifically because […]
Read moreThe Swan Kid, Aj
by Marlene Soto-Riera RARE Parent, Caregiver & Advocate My son Aj was born with multiple medical conditions, […]
Read moreEmpowering Hope For Parents
by Becky Tilley RARE Patient, Advocate & Caregiver Looking back on my life’s journey, I see it […]
Read moreLatest News
NICE Recommends PTC’s AADC Gene Therapy
Rare Daily Staff The United Kingdom’s National Institute for Health and Care Excellence, the drug price watchdog, […]
Read morePTC and Innozyme CEOs Each Announce Their Retirement
Rare Daily Staff PTC Therapeutics Founding CEO Stuart Peltz said that he is stepping down after 25 […]
Read more2023 RARE Mental Health Grant Recipients Announced
Global Genes is pleased to announce the Rare Disease Patient Advocacy Organizations receiving 2023 RARE Mental Health […]
Read moreSeeking a Sustainable Business Developing on N-of-1 Therapies
The ability to pinpoint the underlying genetic causes of diseases and rapidly generate genetic medicines to address […]
Read moreGlobal Genes Team Shares Their Stories on World Rare Disease Day
My daughter Juno was diagnosed with a very rare, severe neurodevelopmental condition called STXBP1-related disorder six years […]
Read moreRARE Global Advocacy Alliance Member Spotlight: Geoffrey Gee
Read moreIndustry News
FDA Issues Says It Won’t Approve Incyte’s Ruxolitinib Extended Release Tablets to Treat Rare Blood Disorders
Rare Daily Staff The U.S. Food and Drug Administration has issued to Incyte a complete response letter […]
Read moreAddressing the Barriers to Patient Participation in Clinical Trials
A significant obstacle to getting patients to participate in rare disease clinical trials, particularly children, is the […]
Read moreGovernment of Canada Improves Access to Affordable and Effective Drugs for Rare Diseases
Rare Daily Staff The Canadian government said it would invest $1.1 billion (CAN$1.5 billion) over three years […]
Read moreModerna and Generation Bio Enter Strategic Collaboration to Develop Non-Viral Genetic Medicines
Rare Daily Staff Messenger RNA pioneer Moderna has entered into a strategic collaboration with genetic medicines developer […]
Read moreFDA Approves Incyte’s Zynyz for the Treatment of Rare Cancer
Rare Daily Staff The U.S. Food and Drug Administration has approved Incyte’s Zynyz, a humanized monoclonal antibody […]
Read moreFDA Grants Orphan Drug and Rare Pediatric Designations for Dyne’s Treatment for Duchenne Muscular Dystrophy
Rare Daily Staff The U.S. Food and Drug Administration has granted orphan drug and rare pediatric disease […]
Read moreAcer Therapeutics Raises $2.7 Million in Registered Direct Offering Priced At-the-Market
Rare Daily Staff Rare disease drug developer Acer Therapeutics said it is raising $2.675 million in a […]
Read moreQuince Gets Unsolicited Acquisition Offer from Echo Lake Capital
Rare Daily Staff Rare disease therapeutics developer Quince Therapeutics confirmed that it received an unsolicited offer to […]
Read moreNovartis Reports Long-Term Efficacy of Zolgensma
Rare Daily Staff Novartis presented new data from two-long terms studies of Zolgensma, its one-time gene therapy […]
Read moreGenetic Counseling
Mother & Daughter Diagnosed with Platelet Storage Pool Disorder
By Kari Peepe RARE Parent, Patient My daughter and I were both diagnosed with a rare storage […]
Read moreRARE Health Equity Report: Building a More Inclusive Rare Disease Community
For communities of color and other minoritized populations, finding and connecting with others in their disease community, […]
Read moreJourney to Answers for Jordan
by Margaux Joseph RARE Parent & Caregiver Jordan is our youngest son and I knew something was […]
Read moreNEXT 2023: The Rise of the Impatient Advocate
As Global Genes begins the year with an expanded focus on enabling next-generation patient advocacy, following its […]
Read moreMake a Plan: How to Talk to Your Family
Tips on how to start a conversation, questions to ask, and why learning about your family health history is important.
Read moreMedical Tests to Find Answers
Learn about medical tests that can help explain why certain conditions run in your family.
Read moreResearch Readiness
RDDS 2022 Webinar: Getting Your Community Ready for Clinical Trials
This is the second in a series of three videos in conjunction with the Rare Drug Development […]
Read moreComputational Approach Identifies Genetic Causes of Three Previously Unexplained Rare Diseases
Rare Daily Staff Researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered […]
Read moreRARE-X Insights & Recommendations for Organizational DEI Strategies Study
Ensuring diversity, equity, and inclusion in rare disease organizations requires focused programs that engage all stakeholders. A […]
Read moreResearchers Use UK Biobank Data to Gain New Insight into Rare Eye Diseases
Rare Daily Staff Researchers have analyzed image and genomic data from the UK Biobank to find insights […]
Read moreGeneric Asthma Drug Emerges as Possible Treatment for ADCY5-Related Dyskinesia
Rare Daily Staff The generic asthma drug theophylline has been show as a potential treatment for the […]
Read more2022 Rare Research Roadmap
This roadmap is designed to put you in the driver’s seat and in control of how to move your research forward. Whether you are an individual, advocate, or organization, this roadmap was created to help you better understand some of the potential routes to treatment and some of the key concepts that are part of these processes.
Read moreMental Health & Wellness
Rare Disease Caregiver Resources
National Caregiver Day in the United States falls on the third Friday of February every year, on […]
Read moreFinding Me Through This Rare Journey
Patient or Advocate: Brittany Anderson Disease Affiliation: Fibrous Dysplasia, McCune Albright Syndrome, Panhypopituitarism, Adrenal Insufficiency, Trigeminal Neuralgia, […]
Read moreBorn to be rare, born to fight for tomorrow
Patient or Advocate: Nick Irwin Disease Affiliation: Porencephaly Hi. My name is Nick. I’m 6 foot 3 […]
Read moreEnd of AmazonSmile program impacts non-profits
Last month, Amazon announced it is sunsetting its AmazonSmile program on Monday, February 20, 2023. The program […]
Read moreCavernous Malformation & Breaking Barriers Initiative
Patient or Advocate: Tymiak Hawkins Disease Affiliation: Cavernous Malformation, Wallenberg Syndrome, Horner Syndrome My name is Tymiak […]
Read moreWhat I Learned About Intrahepatic Cholestasis With Both of My Pregnancies
I frequently wake up thinking of how lucky we were. Before my first pregnancy, I have never […]
Read moreA New, More Inclusive Membership Model for Global Advocacy Alliance Members
Eligibility for Global Genes grants Access to dedicated GAA member meetings at the Annual Summit and other […]
Read moreRARE Global Advocacy Alliance Member Spotlight: Sonny Mullen
Read moreRare Diseases: Reconciling Uncertainty and Family; Leah Sarah Peer, Medical Student and third place winner of 2022 Cox Scholarship
Read moreRARE Daily
FDA’s Marks Calls for Providing Accelerated Approval Path for Gene Therapies
Rare Daily Staff Peter Marks, director of the U.S. Food and Drug Administration’s Center for Biologics Evaluation […]
Read moreEurodis, Ahead of EC Release of Revisions to Orphan Regulations, Comments on Shortcoming of Leaked Draft
Rare Daily Staff The European rare disease organization Eurodis, responding to a leaked draft of soon to […]
Read moreGeneDx Reports Progress on Study to End Rare Disease Diagnostic Odyssey
Rare Daily Staff Initial data and analysis from GUARDIAN, a research study recently launched by Columbia University […]
Read moreFDA Grants RMAT Designation to Intellia’s Experimental Treatment for Hereditary Angioedema
Rare Daily Staff The U.S. Food and Drug Administration granted Regenerative Medicine Advanced Therapy designation to Intellia […]
Read moreNovartis and Biogen Terminate Collaborations with Sangamo for Neurodevelopmental Disorders
Rare Daily Staff Sangamo Therapeutics said that Novartis and Biogen both have terminated collaboration and licensing agreements […]
Read moreArrowhead Receives FDA Fast Track Designation for ARO-APOC3 as a Treatment for FCS
Rare Daly Staff The U.S. Food and Drug Administration has granted Fast Track designation to Arrowhead Pharmaceuticals’ […]
Read moreSearch the RARE List
For more resources, disease-specific information, and news, search our RARE List- an extensive list of rare diseases and rare conditions.
Search Our Full RARE List