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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
George`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 moreScleroderma Awareness Month
Eva is a patient advocate with Scleroderma for the National Scleroderma Foundation. To recognize Scleroderma Awareness Month, […]
Read moreFinding Myself in My Rare and Queer Identities
I recognized both my queerness and disabilities long before I had words for either. I feel fortunate […]
Read moreFrom 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 moreLatest News
Caregiver 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 moreTBX4 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 moreIndustry News
FDA Grants Full Approval to Travere for Filspari in IgA Nephropathy
Rare Daily Staff The U.S. Food and Drug Administration granted Travere Therapeutics full approval and expanded use […]
Read moreAfter Driving an N-of-1 Therapy for Her Son, an Advocate Turns to Helping Others
Yiwei She, founder of the TNPO2 Foundation, discusses how her family was able to treat her son […]
Read moreStudy Explores Quality of Life Effects of Healthcare Access on Caregivers
Rare Daily Staff New strategies are needed to better support rare disease caregivers and improve health outcomes […]
Read moreMetamorphosis Mine: a RAREly Told Stories Film about Scleroderma
In February of 2024, Global Genes together with The Disorder Channel presented a workshop, RAREly Told Stories, […]
Read moreNIMH Awards PsychoGenics $3 million Grant to Use AI Platform for Repurposing
Rare Daily Staff The National Institutes of Health’s National Institute of Mental Health awarded a Fast Track […]
Read morePutting Rare Disease Organization in the Business of Drug Development
Rare disease patient organizations are increasingly driving the discovery and development of therapies to treat the conditions […]
Read moreTern Therapeutics Launches with $15 Million and Pipeline in CLN2 Batten Disease
Rare Daily Staff Tern Therapeutics launched with a $15 million financing and a global licensing agreement with […]
Read moreA Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of HZN-1116 in Participants With Sjögren’s Syndrome
Amgen is sponsoring this clinical trial is to evaluate an investigational medication and determine if it is […]
Read moreWEBINAR: Showing Up 101
On August 15th, Global Genes hosted the webinar “Showing Up 101”. This session is a gently guided, […]
Read moreGenetic Counseling
Moving 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 moreBright Future for Thalassemia Despite Complexities That Persist
Maria Hadjidemetriou, who lives with thalassemia, met with her RARE Compassion Program partner, medical student Julia Su, […]
Read moreResearch Readiness
Amazon 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 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 moreMental Health & Wellness
The 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 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 moreA Momentous Moment in Mississippi
Global Genes asked Global Advocacy Alliance members to share their successes – whether it is meeting an organizational goal, […]
Read moreThe Changing Role of Caregiver Advocates When Caregiving Ends
Bereaved parents of rare disease children must confront not only grief but changes to large parts of […]
Read moreRARE Daily
Understanding the Many Questions Gene Therapies Raise
Gene therapies have emerged as an important and growing area of medicine, but various players in the […]
Read moreBridgeBio Spins-Out Set of Assets into Newly Formed GondolaBio
Rare Daily Staff BridgeBio said in a filing with the U.S. Securities and Exchange Commission that it […]
Read moreNew Test Uses RNA to Expand Diagnostic Yield of Exome Sequencing
Rare Daily Staff Clinical genomics testing company Ambry Genetics has released ExomeReveal, a new multiomic exome sequencing […]
Read moreFDA Grants Accelerated Approval to Gilead’s PBC Drug
Rare Daily Staff The U.S. Food and Drug Administration granted accelerated approval to Gilead Sciences’ Livdelzi for […]
Read moreA Test to Identify People Likely to Develop ALS
Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a […]
Read moreFDA Approves Ascendis’ Hypoparathyroidism Drug After Delays
Rare Daily Staff The U.S. Food and Drug Administration approved Ascendis’ Yorvipath for the treatment of adults […]
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