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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
The 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 moreCaregiver Mental Health: We are Renewable Resources with Finite Capacity
May is Mental Health Awareness Month, so Global Genes reached out to mental health professionals in the […]
Read moreBeyond the Diagnosis: The Critical Need for Mental Health Support in the Rare Community
May is Mental Health Awareness Month, so Global Genes reached out to mental health professionals in the […]
Read moreUnveiling the Hidden Heroes: Recognizing Rare Caregivers During Mental Health Awareness Month
May is Mental Health Awareness Month, so Global Genes reached out to mental health professionals in the […]
Read moreThe Road Continues Past Ehlers-Danlos Diagnosis
Almost 10 years ago, Dawn wrote about her diagnosis with Ehlers-Danlos syndrome. We asked her to provide […]
Read moreWhat Being Undiagnosed Means in the Rare Community
April 29 is Undiagnosed Disease Day, and Global Genes reached out to the Undiagnosed Disease Network Foundation […]
Read moreLatest News
Why Sharing Your Rare Disease Story Can Help
Rare disease advocates (and Global Genes staff!) talk about the importance of sharing your story, and how […]
Read moreRare Disease Focused Therapeutics M&A Soars & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreHow Changing Sequencing Technologies Are Improving Diagnostic Success — 2024 NEXT Report
Time to diagnosis is being cut significantly in many cases due to genomic testing, but there are […]
Read more2024 RARE Mental Health Grant Recipients Announced
Global Genes is pleased to announce the rare disease patient advocacy organizations receiving 2024 RARE Mental Health […]
Read more2024 RARE Research Readiness Fellowship Recipients Announced
Global Genes is pleased to announce the rare disease patient advocacy organizations receiving 2024 RARE Research Readiness […]
Read moreZohreh Talebizadeh, Ph.D., Serves on Plenary Panel Session at Gatlinburg Conference
Zohreh Talebizadeh, Ph.D., Senior Director of the RARE-X Research Program for Global Genes, served on the Association […]
Read moreIndustry News
PPMD Says Decision on Newborn Screening for DMD Delayed
Rare Daily Staff The Advisory Committee on Heritable Disorders in Newborns and Children unanimously voted to postpone […]
Read moreMaze Teams with Shionogi to Develop Its Investigational Treatment for Pompe Disease
Rare Daily Staff Maze Therapeutics entered into an exclusive worldwide license deal with Japanese pharmaceutical Shionigi for […]
Read moreAardvark Therapeutics Raises $85 Million to Advance Experimental Prader-Willi Therapeutic
Rare Daily Staff Aardvark Therapeutics said it raised $85 million in an oversubscribed series C financing to […]
Read moreA Gene Therapy Developer that Embraces Different Models for Reaching Patients
The work of gene therapy pioneer Genethon, a non-profit organization created by the patient association AFM-Telethon, has […]
Read moreRegeneron’s Experimental Gene Therapy Restores Hearing to Normal Level in Deaf Child
Rare Daily Staff Regeneron Pharmaceuticals said its experimental gene therapy DB-OTO improved hearing to normal levels within […]
Read moreMarinus Cuts 20 percent of Its Staff
Rare Daily Staff Marinus Pharmaceuticals said it was laying off 20 percent of its staff as part […]
Read moreFDA Grants Breakthrough Therapy Designation for Avidity’s Treatment for Myotonic Dystrophy Type 1
Rare Daily Staff The U.S. Food and Drug Administration granted Breakthrough Therapy designation to Avidity Biosciences delpacibart […]
Read moreArbor Acquires Gene Editing Biotech Serendipity
Rare Daily Staff Genetic medicines biotech Arbor Biotechnologies acquired gene-editing biotech Serendipity Biosciences, bolstering Arbor’s toolbox of […]
Read moreBroken String Enters Collaboration with Francis Crick Institute to Advance ALS Research
Rare Daily Staff Genomics company Broken String Biosciences said that it has entered a research collaboration with […]
Read moreGenetic Counseling
Bright 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 moreNational DNA Day: Cracking the Code on Rare Diseases and Unlocking Hope
by Shruti Mitkus, Ph.D. National DNA Day is celebrated each year on April 25th to commemorate the […]
Read moreNEXT 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 moreResearch Readiness
FDA Clears First Trial of Prime Medicine’s Editing 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 moreResearchers Uncover Genetic Cause of Rare Neurological Disease
Rare Daily Staff A multinational study by scientists at the University of Utah has identified the genetic […]
Read moreProfluent Releases AI-Created and Open-Source Gene Editor & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreExpanding Access to Genome Sequencing in Rural Populations & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreFinancings of Public Rare Disease Drug Developers Soar & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read morePromise and Challenges of Gene-Editing and Other Genomic Medicines — 2024 NEXT Report
When scientists completed the Human Genome Project in 2003, it provided, among other things, a reference genome […]
Read moreMental Health & Wellness
Shundra Wooten on her short film “Keep It Moving”
Shundra Wooten was diagnosed with Spinocerebellar Ataxia 3, and made a short film “Keep It Moving” to […]
Read moreShantel Sonier on “Glitching with Nick”
Shantel Sonier, a rare mom and caregiver to Nick, who was diagnosed with GRIN2A, created the short […]
Read moreLesley Holroyd on her short film “Born to be Heard”
Lesley Holroyd, who lives with congenital adrenal hyperplasia, discusses what she learned about filmmaking and telling her […]
Read more“Miss Diagnosis” breaking the rules with Tara Rule
Daniel DeFabio, Director of Community Engagement for Global Genes, spoke to Tara Rule about what rules should […]
Read moreTwo Rare Disease Drug Developers Raise Combined $152.5 Million in PIPE Offerings
Rare Daily Staff Two companies developing therapeutics for rare diseases, Zura Bio and Benitec Biopharma, raised $152.5 […]
Read moreNCATS Seeks Applicants for Rare Disease Clinical Research Funding & More — This Week in RARE Daily
This Week in RARE Daily is a feature from Global Genes where you can get a quick […]
Read moreThe Impact of Grants Provided For Ukraine Relief
Healthcare Education Institute was one of six organizations providing aid and support to those affected by the […]
Read moreMental Health Resources for the Rare Disease Community
Those in the rare disease community may experience a variety of mental health issues, ranging from anxiety […]
Read moreCelebrating the Most Expensive Drug for the Disease You Never Heard Of & 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 Daily
Pfizer Pauses Enrollment in DMD Gene Therapy Study After Patient Death
Rare Daily Staff Pfizer, in a May 7 letter to Duchenne muscular dystrophy patient advocacy organizations, reported that […]
Read moreStealth Biotherapeutics’ Barth Syndrome NDA Receives FDA Priority Review
Rare Daily Staff The U.S. Food and Drug Administration has granted Priority Review to Stealth Biotherapeutics’ New […]
Read moreEledon Raises $50 Million in Private Placement
Rare Daily Staff Eledon Pharmaceuticals entered into a securities purchase agreement with certain institutional and accredited healthcare […]
Read moreZenas Raises $200 Million to Advance Immunology-Focused Clinical Programs
Rare Daily Staff Zenas BioPharma, a company developing and commercializing inflammation and immunology-directed therapies for rare and […]
Read moreFDA Grants Fast Track Designation to Iecure for Treatment of Neonatal OTC Deficiency
Rare Daily Staff The U.S. Food and Drug Administration granted Fast Track Designation to Iecure ECUR-506, the […]
Read moreRare Disease Focused Therapeutics M&A Soars in April
Two sizable acquisitions marked an otherwise slow April for rare disease focused therapeutics financings and deals, with […]
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