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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
Journey to a Diagnosis for Kabuki Syndrome
Kristin was diagnosed with Kabuki syndrome at age 11, and had her diagnosis confirmed with genetic testing […]
Read moreRecognizing the Intersection of Stress and Hope
Shannon Bennett, RARE Concierge Patient Navigator for Global Genes and mother to a daughter diagnosed with a […]
Read moreTo Walk A Mile In My Shoes
These shoes are something special, but could you walk a mile in them? They represent all things […]
Read moreThe Making of MOGAD Awareness Month and the Creation of “The Flock”
Julia Lefelar was diagnosed with MOG (Myelin Oligodendrocyte Glycoprotein) Antibody Disease, also known as MOGAD in 2017, […]
Read moreBohring-Opitz Syndrome Diagnosis Drives Mother’s Advocacy
Laura Badmaev is a rare mom to a child with Bohring-Opitz Syndrome. In recognition of Bohring-Opitz Syndrome […]
Read morePatient 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 moreLatest News
Expanding 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 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 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 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 moreIndustry News
Expanding Access to Genome Sequencing in Rural Populations
Rare Daily Staff Patients in rural area often face challenges accesses cutting-edge medical technologies, such as state-of-the-art […]
Read moreA Small Molecule Therapy to Regenerate Muscle in People with DMD
Duchenne muscular dystrophy is an inherited disease caused by genetic mutations that no longer allow the dystrophin […]
Read moreArgenx Highlights gMG Drug Data in CIDP
Rare Daily Staff Argenx said that positive data from its phase 3 ADHERE trial evaluating Vyvgart Hytrulo […]
Read moreGroup Calls for Use of Genome Sequencing as First Line Test for Patients Suspected of Genetic Disease
Rare Daily Staff The Medical Genome Initiative, a group made up of sequencing giant Illumina and leading […]
Read moreFDA Grants Fast Track Designation for Lexeo’s Gene Therapy for Friedreich’s Ataxia Cardiomyopathy
Rare Daily Staff The U.S. Food and Drug Administration has granted Fast Track designation to Lexeo Therapeutics’ […]
Read moreAcross Healthcare Enters Collaboration with n-Lorem Foundation to Develop Submission Platform for Docs
Rare Daily Staff The nonprofit foundation n-Lorem has entered into a collaboration with the technology company Across […]
Read moreA 37-Year Path to a Diagnose, but Now a Drug May Be Two Weeks Away
It took Courtney Ampezzan 37 years to get a correct diagnosis for her condition, an unusual length […]
Read moreUltragenyx Reports Positive Interim Phase 1/2 Data in Patients with Angelman Syndrome
Rare Daily Staff Ultragenyx Pharmaceutical reported positive new data from the phase 1/2 study of GTX-102 for […]
Read moreHarmony and BioProjet License Potential Treatment for Sleep and Wake Disorders
Rare Daily Staff Harmony Biosciences entered an exclusive licensing agreement with French biotech Bioprojet to develop, manufacture, […]
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
NCATS Seeks Applicants for Rare Disease Clinical Research Consortia Funding
Rare Daily Staff The National Institutes of Health’s National Center for Advancing Translational Sciences is seeking new […]
Read moreFeinstein Institutes Secures $6.1 Million NIH Grant for Red Cell Disorder Research
Rare Daily Staff The National Institutes of Health awarded a $6.1 million research grant to the Feinstein […]
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 moreThe 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 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 moreResearchers 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 moreMental Health & Wellness
Mental 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 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 moreFinding 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 moreRARE Daily
J&J Enter Collaborations with Rallybio, Makes Equity Investment
Rallybio said it has entered into a collaboration with Johnson & Johnson to support the development of […]
Read moreVertex Agrees to Acquire Alpine Immune Sciences for $4.9 billion
Rare Daily Staff Vertex Pharmaceuticals said it agreed to acquire immunotherapy developer Alpine Immune Sciences for $65 […]
Read moreForging a Faster Path for Gene Therapies
The Bespoke Gene Therapy Consortium, a public-private partnership backed by the Foundation for the National Institutes of […]
Read moreBrainStorm Reaches Agreement with FDA on Special Protocol Assessment for ALS Trial
Rare Daily Staff BrainStorm Cell Therapeutics said it has reached an agreement with the U.S. Food and […]
Read moreAmylyx’s Withdrawn ALS Drug Shows Promise in Wolfram Syndrome
Rare Daily Staff Amylyx Pharmaceuticals reported positive interim data from the ongoing phase 2 HELIOS clinical trial […]
Read moreZevra Refinances Existing Debt with Up to $100 Million Under New Credit Facility
Rare Daily Staff Rare diseases therapeutics company Zevra Therapeutics said it has entered into a new credit […]
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