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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
It’s Time to Banish the Term “Abnormal” to Describe the External Physical Manifestations of Rare Diseases
Diverse, dissimilar, distinct, unlike, unalike, dissimilar, distinctive, uncommon, unique, another, not the same, characteristic, singular, distinguishing, representative, […]
Read moreThe Power in Realizing “You Have a Say” When It Comes To The Treatment of Your Rare Disease
“Do you want me to put a lead apron over your lower abdomen while we do the […]
Read moreRemembering Kaiden during Spinal Muscular Atrophy Awareness Month
August is Spinal Muscular Atrophy (SMA) Awareness Month, and Global Genes is delighted to hear from Kris […]
Read moreThe Power of Team: Providing a Community of Support for Children with Rare Diseases
The power of team is undeniable – everyday, we see it in classrooms, at work, and certainly […]
Read moreDiagnosis to Community: Hereditary Spastic Paraplegia SPG 7
I was recently diagnosed with HSP, SPG 7 after presenting with tight/spastic legs. I was very fortunate […]
Read moreBorn without a Nose – Congenital Arhinia
by Stacey Jolley I was born in a small town in Ohio along the Ohio River. My […]
Read moreLatest News
Top 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 moreCyclo Therapeutics and Applied Molecular Transport Agree to Merge
Rare Daily Staff Cyclo Therapeutics, a clinical stage company focused on developing therapies for rare and neurological […]
Read moreGlobal Genes Team Collaborates with Homocystinuria Community and Researchers on Report
The Homocystinuria (HCU) community, Dr. Kim Chapman (Children’s National Rare Disease Institute), Dr. Mary Chapman (UPMC Children’s […]
Read moreBreakthroughs Begin with You: Cure SMA Celebrates Spinal Muscular Atrophy Awareness Month
August is Spinal Muscular Atrophy (SMA) Awareness Month, so Global Genes invited Cure SMA, a Global Advocacy […]
Read moreFive Resources For Grieving
August 30 is National Grief Awareness Day. As there are many types of grief and no two […]
Read moreIndustry News
FDA Expands Approved Uses of Pfizer Drug to Include Childhood Leukemia
Rare Daily Staff The U.S. Food and Drug Administration expanded the approval of Pfizer’s Bosulif to include […]
Read moreThéa Terminates Plans to Acquire ProQR Assets
Rare Daily Staff RNA therapy developer ProQR Therapeutics said that Laboratoires Théa’s previously announced agreement to acquire […]
Read moreSoleno Therapeutics Raises $120 Million After Reporting Positive Prader-Willi Trial Results
Rare Daily Staff Two days after reporting positive top-line results of its experimental treatment for Prader-Willi syndrome, […]
Read moreFDA Grants Priority Review for Merck’s Sotatercept to Treat Adults with Pulmonary Arterial Hypertension
Rare Daily Staff The U.S. Food and Drug Administration (accepted for priority review a new Biologics License […]
Read moreA Genetic Counselor’s Journey into Patient Advocacy
Finding a diagnosis for a child with a rare condition can be challenging, even when his mother […]
Read moreStudy Find UK Invested $1.2 Billion in Rare Disease Research from 2016 to 2021
Rare Daily Staff A new report on the rare disease landscape in the United Kingdom finds that […]
Read moreEvotec and Novo Nordisk Launch LAB eN² to Accelerate Translation in Cardiometabolic Diseases
Rare Daily Staff Evotec and Novo Nordisk announced the launch of LAB eN², a translational drug discovery […]
Read moreCF Foundation Invests Up to $9 Million in Arcturus to Develop a Messenger RNA Therapy
Rare Daily Staff The Cystic Fibrosis Foundation is investing up to $9 million in additional funds in […]
Read moreAvalyn Raises $175 Million to Advance Inhaled Pulmonary Fibrosis Programs
Rare Daily Staff Avalyn Pharma, a clinical-stage company focused on development of targeted inhalation therapies for life-threatening […]
Read moreGenetic Counseling
September is Newborn Screening Awareness Month
Learn what newborn screenings are, why they are important, how regulations vary by states across the U.S., […]
Read moreDiscovering Joy in Today: Nicki & Ganesh’s Story
by Nicki Bhandaru, RARE Mom My name is Nicki Bhandaru, and my son Ganesh has X-ALD. A […]
Read moreCEO Charlene Son Rigby Talks Drug Development and the Rare Research Roadmap
Charlene Son Rigby, CEO of Global Genes, talks about rare drug development, how patient advocates can contribute […]
Read moreMay is Ehlers-Danlos Awareness Month – Learn More About EDS
Lara Bloom, President and CEO of The Ehlers-Danlos Society, talks about why learning about Ehlers-Danlos Syndrome is […]
Read moreUnderdiagnosed? Fight For a More Complete Diagnosis
by Effie Parks Note: this article first appeared on Global Genes’ RARE Portal You or a loved […]
Read moreAnatomy of a Next Generation Rare Disease Patient Advocate
Patience is not always a virtue. In the world of rare disease, drug developers and patient advocates […]
Read moreResearch Readiness
AI Tool Classifies the Effects of 71 Million Missense Mutations
Rare Daily Staff Google DeepMind has released the AlphaMissense catalogue, which used an AI model to categorize […]
Read moreLisa Kadyk & Aditi Desai from CIRM talk about being at Week in RARE
Lisa Kadyk, PhD, Associate Director of Therapeutics, and Aditi Desai, MPH, CPH, Community Outreach Manager, at CIRM, […]
Read moreScientists Create First Mouse Model for 4H Leukodystrophy
Rare Daily Staff A research team has succeeded in creating the first representative animal model of 4H […]
Read moreGilbert Family Foundation Establishes Neurofibromatosis Research Institute
Rare Daily Staff The Gilbert Family Foundation said it would create the Nick Gilbert Neurofibromatosis Research Institute […]
Read moreResearchers Discover Form of CF Shares Mechanism with Cystinosis
Rare Daily Staff The same cellular mechanism involved in a form of cystic fibrosis is also implicated […]
Read moreImplementing a Decentralized Clinical Trial Design for Children with SCN2A & SCN8A Developmental and Epileptic Encephalopathies (DEEs)
contribution from Praxis Precision Medicines Praxis Precision Medicines is a clinical biopharmaceutical company with the largest portfolio […]
Read moreMental Health & Wellness
Autoinflammatory Alliance: Bringing Hope and Changing Lives For Those Living With Autoinflammatory Disease
August is Autoinflammatory Disease Awareness Month. One of the more common rare diseases that falls into the […]
Read moreAutoinflammatory Disease: The Invisible Epidemic
August is Autoinflammatory Disease Awareness Month. One of the more common rare diseases that falls into the […]
Read moreA Look Back and Forward for Health Equity at the 3rd Annual RARE Health Equity Forum
The 2023 RARE Health Equity Forum will be held in San Diego, California, September 18 and 19. […]
Read moreNavigating the 2023 Global Genes RARE Advocacy Summit: A Choose-Your-Own-Adventure Extravaganza!
Welcome, brave adventurers, to the Global Genes RARE Advocacy Summit! Get ready to embark on a wild […]
Read moreKiora, Looking to Conserve Cash, Sharpens Focus on Rare Retinal Diseases
Rare Daily Staff Kiora Pharmaceuticals said it will sharpen its focus on rare retinal diseases and will […]
Read moreWhy should RARE Disease dads attend the RARE Advocacy Summit during Week in Rare?
1. You will know you are not alone. As a rare disease dad myself (my son Lucas […]
Read moreCollaboration Key Theme for RARE Advocacy Summit Sessions and Networking Opportunities
The 2023 RARE Advocacy Summit will be held in San Diego, California, September 19-21. by Sravanthi Meka […]
Read moreCongratulations to the 2023 RARE Champions of Hope
The RARE Champions of Hope Awards celebrate, honor and recognize those in the rare disease community who […]
Read moreThe Fierce Urgency of Now — The 2023 NEXT Report
While fundraising is a key part of patient advocacy and drug development, time may be more important […]
Read moreRARE Daily
Ionis Collaborates with Roche on RNA-Targeted Programs for Huntington’s and Alzheimer’s
Rare Daily Staff Ionis Pharmaceuticals has entered an agreement with Roche for two undisclosed early-stage programs for […]
Read moreFDA Grants Shionogi’s Tetra Rare Pediatric Disease Designation for Experimental Fragile X Therapy
Rare Daily Staff The U.S. Food and Drug Administration granted Shionogi’s Tetra Therapeutics Rare Pediatric Disease designation […]
Read moreSoleno Reports Positive Top-line Results from Prader-Willi Study
Rare Daily Staff Soleno Therapeutics reported positive top-line results from the randomized withdrawal period of Study C602, […]
Read moreTakeda Licenses ALS Therapy from AcuraStem for up to $580 Million
Rare Daily Staff Takeda has entered into a license agreement with AcuraStem to develop and commercialize the […]
Read moreIonis Reports Positive Phase 3 Results for FCS Therapy
Ionis Reports Positive Phase 3 Results for FCS Therapy Rare Daily Staff Ionis Pharmaceuticals reported positive topline […]
Read moreAlfasigma to Acquire Intercept, Expanding the Global Footprint in Liver Diseases
Rare Daily Staff Italian pharmaceutical company Alfasigma is acquiring Intercept Pharmaceuticals, which is focused on therapeutics for […]
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