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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
Dear SCN8A
Dear SCN8A, I am so full of grief and sadness for my entire family and community. I feel as if I am on continuous spiral. Never really coming in and out of grief but always moving in and out of it. SCN8A, you are relentless and have chosen the wrong woman to fight with.
Read moreDear NBIA Behind the Scenes
Dear NBIA, You are like a fly always around. Only being a pest when you are right in my face, seeming to never leave. To me, you are like walking through a field of cacti, full of thorns and things you don’t want to get near, scared to make a wrong move. … Individually it is difficult and often confusing, but together with a community creates a source of beauty.
Read moreMy First Global Genes Conference
By Kara Ayik It was nearly dinner time when I arrived at the hotel in San Diego, […]
Read moreGeorge`s Journey
George, our gorgeous baby boy had been diagnosed with a rare cancer, rhabdomyosarcoma (RMS). We also had the results of a whole genome sequencing test back on George, which showed he had 2 very rare genetic conditions, Silver Russell Syndrome and Mosaic Variegated Aneuploidy (MVA) Syndrome.
Read moreAngelina Spreading Light, Love, and Inspiration on CASK Gene Awareness Day
To recognize CASK Gene Awareness Day on July 15, Global Genes reached out to Giovi Moschoudis, mother […]
Read moreTeam Wally Inspires During Fragile X Awareness Month
To recognize Fragile X Awareness Month in July, Global Genes reached out to National Fragile X Foundation, […]
Read moreLatest News
Congratulations to the 2024 RARE Champions of Hope!
The RARE Champions of Hope Awards celebrate, honor and recognize those in the rare disease community who […]
Read moreCaregiver Support Program: Carrie Borrello
In 2024, Global Genes partnered with Brad Thompson, M.A., NCC, LPC-S to host a caregivers support program […]
Read moreFirst Definitive European Clinical Guidelines for BHD Diagnosis & Management
Global Genes asked Global Advocacy Alliance members to share their successes – whether it is meeting an organizational goal, kicking […]
Read moreMaurya’s Rare Odyssey – a RAREly Told Stories film about Hereditary Spastic Paraplegia SPG4
In February of 2024 Global Genes together with The Disorder Channel presented a workshop, RAREly Told Stories, […]
Read moreBeginner’s Guide to Rare Disease, Jessica’s Version
When we asked Jessica Patay for some resources to help guide those just beginning to face a […]
Read moreThe Beginner’s Guide to Rare Disease
If you were just diagnosed with a rare disease or you are feeling you may remain undiagnosed […]
Read moreIndustry News
Genomics England Screens First Newborns for More Than 200 Genetic Conditions as New Study Begins
Rare Daily Staff Genomics England has started to test hundreds of babies for more than 200 rare […]
Read moreShortening the Diagnostic Odyssey
Despite advancements in genetic testing, people with rare diseases often face a prolonged diagnostic odyssey involving multiple […]
Read moreCAMP4 Enters Collaboration with BioMarin to Advance Novel Regulatory RNA-Targeting Medicines
Rare Daily Staff CAMP4 Therapeutics said it entered into a research collaboration with BioMarin Pharmaceutical to advance […]
Read moreLife Through A Lens: A RAREly Told Stories Film
Jeff Levenson submitted his film, “Life Through A Lens,” about a Hollywood photographer who has Adult polyglucosan […]
Read morePass Me The Potatoes, Please: A RAREly Told Stories Film
Lori Renna Linton made the film, “Pass Me The Potatoes, Please” about Hereditary Spastic Paraplegia (HSP) and […]
Read moreWEBINAR: Financial Assistance for Rare Disease, Part 1
What financial assistance resources and services are available to you? As a part of our Financial Assistance […]
Read morePfizer Pulls Oxbrya from Market
Rare Daily Staff Pfizer said that it is voluntarily withdrawing all lots of Oxbryta for the treatment […]
Read moreMaking Exomes More Revealing
Standard exome sequencing, which maps the protein coding regions of the genome, will deliver a diagnosis of […]
Read moreEvent Planning Toolkit
Global Genes has partnered with Simons Searchlight to bring you our Event Planning Toolkit! This toolkit is […]
Read moreGenetic Counseling
From First Symptoms to Advocate for Transverse Myelitis
To recognize Transverse Myelitis Awareness Month in June, Global Genes reached out to The MOG Project, a […]
Read moreMoving from Awareness to Action after Sickle Cell Disease Diagnosis
Karen L. Proudford, Ph.D. is the President of Williams E. Proudford Sickle Cell Fund, Inc., and daughter […]
Read moreSRNA recognizes progress for TM during Transverse Myelitis Awareness Month
Throughout the month of June, we at the Siegel Rare Neuroimmune Association (SRNA) are recognizing Transverse Myelitis […]
Read moreParents Take Action After SynGAP1-Related Disorder Diagnosis
Zoe Bailey is the Volunteer Coordinator for SynGAP Research Fund. and mother to Kaia, who was diagnosed […]
Read moreContinuing Advocacy and Expanding Research Efforts: Global Genes 2023 Impact Report
To our community members: For both the rare disease community and Global Genes, 2023 marked a year […]
Read moreThe War May End but the Fight Continues After Rare Disease Diagnosis
by Damian Carbajal Air Force Veteran & RARE Patient Warrior In 2017 I felt as if I […]
Read moreResearch Readiness
Chiesi Global Rare Diseases Launches Grant Initiative to Support Research into LSDs
Rare Daily Staff Chiesi Global Rare Diseases has launched Find For Rare, a new grant initiative to provide […]
Read moreAmazon Web Services Commits $10 million to Pediatric Rare Disease Research & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreAWS Commits $10 million to Pediatric Rare Disease Research
Rare Daily Staff Amazon Web Services said it is committing $10 million to empower nonprofit institutions to […]
Read morePartnerships in Action — RARE-X Exchange
Partnerships in Action was part of the 2024 RARE Drug Development Symposium’s RARE-X Users Forum Moderator: Charlene […]
Read moreUnlocking Insights Together: The Power of Data Collaboration — RARE-X Exchange
Unlocking Insights Together: The Power of Data Collaboration was part of the 2024 RARE Drug Development Symposium’s […]
Read moreIntegrating Clinical & Patient Reported Data: RARE-X Exchange
Integrating Clinical & Patient Reported Data was part of the 2024 RARE Drug Development Symposium’s RARE-X Users […]
Read moreMental Health & Wellness
TBX4 Family Film – A RAREly Told Stories Film
In February of 2024 Global Genes together with The Disorder Channel presented a workshop, RAREly Told Stories, […]
Read moreThe yellow brick road feels a bit different for rare disease families.
There’s No Place Like Hope. There’s No Place Like Hope. You might be right to say we […]
Read moreGlobal Genes’ Sweet 16th Birthday Success Stories
August 15th, 2024 marks Global Genes’ 16th birthday! Since 2008, our organization has made significant efforts and […]
Read moreJansen’s Journey – A RAREly Told Stories film
In February of 2024 Global Genes together with The Disorder Channel presented a workshop, RAREly Told Stories, […]
Read moreFinding Financial Assistance for Rare Diseases in the U.S.
Amy Niles, Chief Mission Officer for the PAN Foundation, shares options for those looking for financial assistance […]
Read moreCelebrities Diagnosed with Rare Diseases
No one living with a rare disease would wish it upon another person. But many people with […]
Read moreThe need for regulators to exercise their flexibility to address ultra-rare therapies — 2024 NEXT Report
The path to rare disease drug development comes with built-in obstacles as it is, but when seeking […]
Read moreFDA Grants Sarepta Expanded Approval for DMD Gene Therapy & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreFIVE New KdVSF Investigator Grants
Global Genes asked Global Advocacy Alliance members to share their successes – whether it is meeting an organizational goal, […]
Read moreRARE Daily
Biohaven SCA Therapy Meets Primary Endpoint in Pivotal Study
Rare Daily Staff Biohaven a pivotal study of its experimental therapy troriluzole to treat the rare neurodegenerative […]
Read moreFDA Approves Zevra’s NPC Therapy
Rare Daily Staff The U.S. Food and Drug Administration approved Zevra Therapeutics Miplyffa, an oral therapy for […]
Read moreHow One Patient Organization Catalyzed Drug Development
Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing […]
Read moreAscendis Reports Positive Results for Experimental Achondroplasia Therapy
Rare Daily Staff Ascendis Pharma reported positive topline data from its pivotal double-blind placebo-controlled trial of its […]
Read moreEnabling On-Demand Therapies
Earlier this year, the company gained attention when it reported that developed a customized antisense oligonucleotide to […]
Read moreMDA Launches Program to Develop Gene Therapies for Ultra-Rare Neuromuscular Diseases
Rare Daily Staff The Muscular Dystrophy Association said it has launched the MDA Kickstart program for Ultra-Rare […]
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For more resources, disease-specific information, and news, search our RARE List- an extensive list of rare diseases and rare conditions.
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