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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
Patient Journey with Multiple Rare Diagnoses: “This. Isn’t. My. Body.”
Meredith has been diagnosed with a number of rare conditions, including Hypermobile Ehlers-Danlos syndrome, Alpha-1 Antitrypsin deficiency, […]
Read moreA Girl Who Never Gave Up Despite Trigeminal Neuralgia Diagnosis
Morgan was diagnosed with trigeminal neuralgia as a teenager. My name is Morgan Jones. I lived in […]
Read moreFrom Rare Mom & Caregiver to Champ1 Advocate
Richelle Wissink is a rare mom and caregiver and became an advocate after her son was diagnosed […]
Read moreBig Boost in Rare Disease Financings & More — This Week in RARE Daily
This Week in RARE Daily is a new feature from Global Genes where you can get a […]
Read moreGiving Thanks during Trisomy Awareness Month
March is Trisomy Awareness Month, and Global Genes asked Gary David, a rare disease dad, caregiver, and […]
Read moreJourney of a Ph.D. with Muscular Dystrophy
I’m a 35 year old with Muscular Dystrophy from the Land of Enchantment (aka New Mexico). As […]
Read moreLatest News
The Vital Role of Education in Patient Advocacy: A Gene Therapy Perspective
Gene therapy promises to revolutionize medicine, particularly for rare diseases, approximately 80% of which are genetic in […]
Read moreFDA Approves First Gene Therapy for Children with MLD & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreRare, Ultra-Rare & Hyper-Rare: A Search for Paths Forward — 2024 NEXT Report
Over 40 years after the Orphan Drug Act of 1983, the definition of rare disease as it […]
Read moreRecapping Global Genes staff activities during Rare Disease Week
Mackenzie Abramson provides a recap of Rare Disease Day and Rare Disease Week activities in Washington D.C. […]
Read moreQuick and Simple Strategies to Help You and Your Family Reset and Recharge
As a rare disease caregiver or care partner, you may be feeling increasing pressure to do it […]
Read moreSigns of Depression and Anxiety in Children and Teens Living with a Rare Condition
Kids with rare diseases experience depression and anxiety at 2-3 times a higher rate than their peers. […]
Read moreIndustry News
Stoke Raises $125 Million After Reporting Positive Results from Dravet Study
Rare Daily Staff Stoke Therapeutics tapped the public market to raise $125 million after reporting positive results […]
Read moreBuying and Building a Gene Therapy Presence
Ha Tran, medical head of cell and gene therapy for Astellas Pharma, discusses the company’s vision for […]
Read moreFDA Approves Merck’s Winrevair for Adults with Pulmonary Arterial Hypertension
Rare Daily Staff The U.S. Food and Drug Administration Merck’s Winrevair for the treatment of adults with […]
Read moreStoke Surges After Reporting Positive Results from Dravet Syndrome Study
Rare Daily Staff Stoke Therapeutics’ shares surged 90 percent after the company reported positive new data from […]
Read moreFDA Grants Fast Track Designation to J&J’s Nipocalimab to Reduce Risk of FNAIT in Alloimmunized Pregnant Adults
Rare Daily Staff The U.S. Food and Drug Administration granted Fast Track designation for Johnson & Johnson’s […]
Read moreTUDCA-ALS Late-Stage Trial in ALS Patients Fails
Rare Daily Staff The TUDCA-ALS consortium said top-line results from the European phase 3 clinical trial of […]
Read moreResearchers Unlock Genetics of Ultra-Rare Neurodevelopmental Disorder
Rare Daily Staff Researchers at Ottawa’s Faculty of Medicine have revealed how gene mutations work to cause […]
Read moreCelebrating the Most Expensive Drug for the Disease You Never Heard Of
When doctors at Children’s Hospital of Philadelphia diagnosed Maria Kefalas’ 2-year-old daughter Cal in 2012 with metachromatic […]
Read moreVerge Genomics and Ferrer to Co-Develop Clinical-Stage ALS Therapy
Rare Daily Staff Verge Genomics and Spanish biopharma Ferrer entered a strategic collaboration to co-develop VRG50635, Verge’s […]
Read moreGenetic Counseling
NEXT Report 2024: Rewriting the Rules
Over the past year, technological advances in rare disease drug and therapy development, coupled with the tenacity of rare disease patients and advocates, have prevailed despite the challenges of financial difficulties in biopharma. Next-generation patient advocates continue to take an active role in drug development, as outlined in the 2024 NEXT Report.
Read moreImportance of Sharing Family History in a Huntington’s Disease Family
by Kathleen Langley I am from a Huntington’s disease (HD) family. I tested negative in the 1990’s, […]
Read moreA Family PKU Journey from Diagnosis as a Newborn to Living as an Adult
December 3rd is National PKU Awareness Day, and Global Genes asked the National PKU Alliance and a […]
Read moreTop 10 Takeaways from the 2023 RARE Health Equity Forum
Whether you attended in person or watched the live stream, we hope that you now have ideas […]
Read moreTop 10 Takeaways from the 2023 RARE Advocacy Summit
Did you LEVEL UP while attending or live streaming the 2023 RARE Advocacy Summit? We certainly did! […]
Read moreSeptember is Newborn Screening Awareness Month
Learn what newborn screenings are, why they are important, how regulations vary by states across the U.S., […]
Read moreResearch Readiness
Researchers Find Genetic Switch Underlying Rare Inflammatory Diseases
Rare Daily Staff Researchers have discovered how the body’s inflammation machinery can get stuck and cause rare […]
Read moreEquity, Diversity & Inclusion Seminar: Defining Your Underserved & Underrepresented Patient Population
Global Advocacy Alliance Lunch & Learn Equity Diversity & Inclusion Seminar, Part 1 Defining Your Underserved & […]
Read moreGlobal Genes’ Mackenzie Abramson continues her Rare Disease Week adventures in Washington D.C.
Mackenzie Abramson, Senior Manager of Research Program Communications for Global Genes, Rare Patient and Advocate, takes on […]
Read moreGlobal Genes’ Mackenzie Abramson takes on Washington D.C. at Rare Disease Week
Mackenzie Abramson, Senior Manager of Research Program Communications for Global Genes, Rare Patient and Advocate, takes […]
Read moreRAREly Told Stories Workshop
Have you wanted to tell your rare disease story as a documentary or a short video? Global […]
Read moreBeginner’s Guide to Community Activation — RARE Advocacy Summit 2023
As part of the Community & Capacity Building track from the 2023 RARE Advocacy Summit, this panel […]
Read moreMental Health & Wellness
Finding Support: A Compilation of Emotional and Mental Health Resources in the United States
There are a number of mental health resources available for rare disease patients, families and caregivers, but […]
Read moreGetting Help & Finding the Right Fit: Available Emotional and Mental Health Resources
Many resources are available for mental health care, but it is important to carefully research them, access […]
Read moreDepression and Anxiety: Understanding the Signs and Symptoms and Getting Help
Having a chronic and rare disease is a challenging experience, and especially difficult for children and adolescents, […]
Read moreAddressing and Managing Pain: Resources for Patients Who Have Pain
The management of chronic pain has proven to be a significant challenge for rare diseases patients and […]
Read moreCIRM Awards $56 Million to Advance Clinical Research, Including Lupus and Glioblastoma
CIRM Awards $56 Million to Advance Clinical Research, Including Lupus and Glioblastoma Rare Daily Staff The California […]
Read moreLove is in the RARE – Tips for Love from the Rare Disease Community
Valentine’s Day celebrates romantic love, but how does rare disease throw a curve into typical loving relationships? […]
Read moreIn the Realm of Rarity: Joshua Salisbury, first place winner of 2023 Cox Scholarship
Read moreListen Louder: Rahi Patel, second place winner of 2023 Cox Scholarship
Read moreHANDling Your Story: Tips For Telling Your Story
by Mary Morlino RARE Patient & Patient Advocate I created this HANDling Your Story tip sheet because […]
Read moreRARE Daily
FDA Grants Rare Pediatric Disease Designation to Tonix TNX-2900 for Prader-Willi Syndrome
Rare Daily Staff The U.S. Food and Drug Administration has granted Rare Pediatric Disease Designation to Tonix […]
Read moreFDA Approves Alexion Rare Diseases’ Ultomiris to Treat Adults with NMOSD
Rare Daily Staff The U.S. Food and Drug Administration approved Alexion Rare Diseases’ supplemental new drug application […]
Read moreFDA Approves J&J’s Opsynvi as Once-Daily Single-Tablet Combination Therapy for PAH
Rare Daily Staff The U.S. Food and Drug Administration has approved Johnson & Johnson’s Opsynvi for the […]
Read moreAxsome AXS-12 Achieves Primary Endpoint in Phase 3 Trial in Narcolepsy
Rare Daily Staff Axsome Therapeutics said AXS-12 achieved the primary endpoint and significantly reduced the frequency of […]
Read moreReal-World Evidence Supporting Rare Disease Therapy Approvals Gets Mixed Response from FDA
Rare Daily Staff The small size of patient populations with certain rare diseases creates challenges from drug […]
Read moreIntellia Exits Gene Editing Collaboration with Regeneron
Rare Daily Staff In an SEC filing, Intellia Therapeutics revealed that it was opting out of a […]
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