https://www.livescience.com/health/heart-circulation/diagnostic-dilemma-a-rare-genetic-disease-stained-a-womans-heart-black
An older woman had a relatively common heart problem, but it had a very rare cause.
diagnostic dilemmararegeneticdiseasestained
https://giveanhour.org/compassion-fatigue-rare-disease-caregivers/
Oct 7, 2025 - Compassion fatigue is the hidden cost of caring for someone with a rare disease. Explore the science, data, and human stories behind caregiver burnout—and...
compassion fatiguerare diseasecommunityprice
https://www.rarediseaseday.org/
Oct 27, 2025 - Raising awareness for patients, families and carers around the world that are affected by rare diseases.
rare diseaseday
https://jdcorporateblog.com/jd-health-expands-rare-disease-support-assists-over-23000-patients-via-joint-charity-programs/
In observance of Rare Disease Day on February 28, JD Health hosted the 4th Rare Disease Service Ecosystem Forum in Beijing. At the event, JD Health, in...
rare diseasejdhealthexpandssupport
https://www.events.unsw.edu.au/event/rare-disease-day-2026-care-connect-cure
Care, Connect, Cure is a free, inaugural hybrid summit hosted by Rare Diseases NSW, Genetic Alliance Australia, and Belongside Families, bringing together...
rare diseasecare connectunsw sydneydaycure
https://corporate.dukehealth.org/news/first-academic-medical-center-implants-cell-based-therapy-rare-eye-disease
Oct 28, 2025 - DURHAM, N.C. – A team at the Duke Eye Center is the first team at a U.S. academic medical center to implant a new commercially available cell-based gene...
medical centerfirstacademicimplantscell
https://www.cslbehring.ch/news/2024/rare-disease-day-2024
NEUES VON CSL BEHRING 2024
rare diseaseday
https://endpoints.news/protara-trumpets-small-rare-disease-dataset-in-children-for-cell-therapy/
Nov 19, 2025 - Protara Therapeutics on Wednesday revealed new data showing its experimental bladder cancer cell therapy could also have potential in a rare pediatric disease.
rare diseasetrumpetssmalldatasetchildren
https://www.sciencealert.com/this-rare-gene-variant-seems-to-protect-you-from-alzheimers-disease
Jun 24, 2024 - A woman in Colombia with rare genetic resistance to Alzheimer's disease may have more company than scientists thought.
raregenevariantseemsprotect
https://www.statnews.com/2025/08/21/sarepta-gene-therapy-families-left-behind/
Oct 10, 2025 - After deaths and FDA setbacks, Sarepta abandoned LGMD gene therapy, leaving families desperate and patients without long-promised treatments.
rare diseasegene therapypatientsleftadrift
https://giveatrium.org/1-million-gift-to-establish-pediatric-rare-disease-center-at-atrium-health-levine-childrens/
Mar 24, 2022 - One in 10 Americans has a rare disease, and 90% of those diseases have no FDA-approved treatment. Children with rare diseases require seven times more office...
rare diseasemilliongiftpediatriccenter
https://www.statnews.com/2025/12/03/crispr-pura-syndrome-rare-diseases/
Dec 3, 2025 - “There was a clear gap in communication” between parents of children with rare diseases and the scientists behind a major recent CRISPR breakthrough.
rare diseasemanagingparentsexpectationsaround
https://www.dailymail.co.uk/tvshowbiz/article-15432725/grey-anatomy-star-reveals-incurable-muscle-illness.html
Jan 4, 2026 - Fans of the show will recognize Bailey from his recurring role as Joe, the owner of a bar frequented by staff at the hospital where the bulk of the action...
greyanatomystarrevealsrare
https://www.goodmorningamerica.com/video/65191136
Dr. David Fajgenbaum opens up about his remarkable true story and his new memoir in an interview with "GMA."
remarkable journeytrycurerare
https://www.pharmaceutical-technology.com/analyst-comment/rare-disease-regulations-developing-asean/
Nov 27, 2025 - With a population of over 670 million people in ASEAN, the total number of patients experiencing rare diseases and conditions is high.
rare diseaseslowprogressregulationsdeveloping
https://bionews.com/contact-us/
Aug 18, 2025 - Bionews connects people with news, information and community. Learn more about our rare communities and digital health solutions.
digital healthrare diseasenetwork
https://www.kidney.org/news-stories/what-you-should-know-about-complement-3-glomerulopathy-c3g
C3G is a rare kidney disease with new treatments emerging. Learn the signs, types, therapies, and how research is driving hope for patients.
kidney diseaseraretypesdiagnosisnew
https://www.mmitnetwork.com/webinar-download-uncovering-new-rare-disease-patients-using-structured-and-unstructured-real-world-data/
Aug 19, 2025 - Learn how NorstellaLinQ uses structured and unstructured real-world data to identify rare disease patients and inform HEOR, commercial, and payer strategies.
rare diseasedemandwebinardownloaduncovering
https://news.fsu.edu/news/health-medicine/2025/07/09/florida-surges-to-forefront-of-rare-disease-research-with-boost-from-sunshine-genetics-act/
Jul 9, 2025
rare diseasefloridaresearchboost
https://clarivate.com/podcasts/ideas-to-innovation-season-two/how-science-and-big-data-are-helping-in-the-search-for-an-effective-treatment-of-a-rare-disease-that-causes-blindness/
Approximately 35,000 people worldwide have LHON, a genetic condition that affects the optic nerve, which sends visual information from the eye to the brain.
big datasciencehelpingsearch
https://www.cslbehring.ch/news/2024/bern-leuchtet-am-tag-der-seltenen-krankheiten
NEUES VON CSL BEHRING 2024
rare diseaseday
https://www.livescience.com/health/medicine-drugs/8-year-old-with-rare-fatal-disease-shows-dramatic-improvement-on-experimental-treatment
A child with a rare genetic disease that affects mitochondria is the first person to receive a new experimental treatment for the potentially life-threatening...
year oldrarefataldiseaseshows
https://www.broadinstitute.org/rare-disease
Broad scientists employ a variety of approaches, including DNA and RNA sequencing, to identify genetic variants that give rise to rare disease. They also study...
rare diseasebroadinstitute
https://pridesource.com/article/john-corvino-ppaos
Oct 28, 2025 - John Corvino has always known how to use his words.For 25 years, the Wayne State University philosophy professor traveled to more than 250 college
rare diseaselgbtqadvocatejohnfaces
https://www.republicworld.com/entertainment/hollywood/bret-hanna-shuford-wicked-broadway-actor-dies-at-46-after-prolonged-battle-with-rare-disease
Jan 5, 2026 - Bret died on Saturday, January 3, 2026, after a prolonged battle with a rare and aggressive form of Hemophagocytic Lymphohistiocytosis (HLH) and T-Cell...
brethannawickedbroadwayactor
https://www.healthdigest.com/2052336/elvis-presley-rare-autoimmune-disease/
Dec 27, 2025 - When Elvis Presley died, there were many theories about the cause. However, one doctor says this rare autoimmune disease may have played a role.
elvis presleyautoimmune diseaserareneverknew
https://www.scmp.com/news/people-culture/social-welfare/article/3152336/chinese-father-could-not-find-drugs-treat-his?module=multimedia&pgtype=section
Nov 26, 2021 - Treatment for Menkes Disease is experimental and nearly impossible to find in China, so Xu Wei decided to make the drugs in his home.
chinesefathercouldfinddrugs
https://alpha1.org/nord-webinar-open-enrollment-essentials-for-rare-disease-families/
Dec 10, 2025 - Learn essentials for choosing the right health plan during open enrollment. Get tips to protect your care and medicines as health insurance changes.
open enrollmentrare diseasenordwebinaressentials
https://www.jax.org/research-and-faculty/research-centers/rare-disease-translational-center
To empower rare disease solutions through partnership, innovation, and scaled pre-clinical pipelines, to deliver targeted therapies from lab to clinic swiftly...
rare diseasetranslationalcenter
https://waylandstudentpress.com/127401/features/the-boston-globes-rare-disease-summit-emphasizes-the-importance-of-community-with-the-treatment-of-rare-diseases/
Diagnosement day is different for everyone, but regardless of how one’s prognosis is delivered, once you know you have a rare disease, your entire world...
boston globerare diseasesummitemphasizesimportance
https://www.ncl.ac.uk/rare-diseases/
As a centre of research excellence, Newcastle has a long and distinguished history of research and clinical care in rare disease.
rare diseasenewcastle universitycentre
https://www.sanofi.com/en/partnering/partnering-focus-areas/rare-disease
We never stop working for people living with rare diseases, providing hope with every breakthrough and every partnership. Find out more about Rare Disease...
rare diseasepartnerships
https://abc7.com/post/thousand-oaks-parents-hope-raise-money-treatment-sons-rare-disease/18242548/
Dec 3, 2025 - A Thousand Oaks family is raising money for what could be the first-ever gene therapy for their son, Aiden Steiner's, rare and terminal disease, INAD.
thousand oaksraise moneyparentshopetreatment
https://www.sciencealert.com/us-man-dies-from-rare-disease-following-mosquito-bite
Aug 29, 2024 - A person in the northeastern US state of New Hampshire has died after contracting the rare mosquito-borne eastern equine encephalitis (EEE) virus, health...
rare diseaseusmandiesfollowing
https://www.swissinfo.ch/eng/medicine-access/patent-battle-in-india-tests-roches-grip-on-rare-disease-market/90172533
Oct 17, 2025 - What's behind the patent battle between an Indian generic maker and Roche over a rare disease drug?
rare diseasepatentbattleindiatests
https://www.cslbehring.ch/news/2025/bern-leuchtet-am-tag-der-seltenen-krankheiten---2025
rare diseaseday
https://www.genezen.com/insights/genezen-cares-rare-disease-partner-spotlight-nf2-biosolutions/
Nov 17, 2025 - In honor of Neurofibromatosis Awareness Month, and Neurofibromatosis Type 2 Awareness Day on May 22, we are proud to spotlight one of our parent-founded rare...
rare diseasepartnershipspotlightcare
https://www.genezen.com/insights/serving-patients-a-shared-mission-in-rare-disease-gene-therapy/
Nov 17, 2025 - At Genezen, our mission has always been rooted in a singular goal—serving patients. That ethos came to life during a recent panel discussion led by...
rare diseasegene therapyservingpatientsinnovation
https://www.kingshealthpartners.org/events/khp-rare-disease-network-ppie-event?occurrenceID=620
rare diseasenetworkevent
https://www.statnews.com/status-list/2025/crystal-mackall/
Apr 10, 2025 - Crystal Mackall, a longtime cell therapy researcher at the National Cancer Institute who's now at Stanford, is the founder of nonprofit called Access4Kids.
rare diseasecrystalexpertnamedstatus
https://clarivate.com/podcasts/conversations-in-healthcare/how-healx-uses-ai-to-transform-rare-disease-drug-discovery/
In this episode of Conversations in Healthcare, Mike Ward speaks with Dr. Tim Guilliams, the co-founder and CEO of Healx. Healx is an artificial
rare diseasedrug discoveryusesaitransform
https://www.12news.com/article/life/animals/deadly-parvo-disease-surging-rare-november-outbreak-arizona/75-4149c025-2bae-4bbb-86aa-a1abb4d9079c
Emergency veterinarians across the state are seeing a startling wave of parvo cases in dogs.
deadlydiseasesurgingrarenovember
https://www.ppd.com/therapeutic-expertise/rare-disease/
Feb 20, 2026 - PPD is deeply committed to advancing rare disease CRO research. Find out more about our patient-centric solutions that reach globally dispersed populations.
rare diseasecrotherapeuticresearchppd
https://www.mmitnetwork.com/case-study-download-smoothing-patient-access-rare-disease/
Aug 12, 2025 - MMIT’s payer policy data and market insights helped one biopharma company improve coverage for its rare disease therapy.
case studypatient accessrare diseasedownloadsmoothing
https://www.rarediseasediversity.org/blog
The latest news, events and resources from the Rare Disease Diversity Coalition.
rare diseasediversitycoalition
https://www.genedx.com/
Genetic testing for rare and complex conditions, chosen by over 80% of genetic and pediatric providers. The #1 preferred genomic test for precise, fast,...
genetic testingrare diseaseconditions
https://clarivate.com/life-sciences-healthcare/blog/unleashing-the-power-of-computational-tools-in-rare-disease/
May 13, 2025 - Discover how computational tools are transforming rare disease research, enabling faster diagnostics, better treatments, and advancements in precision medicine.
rare diseaseunleashingtoolsresearch
https://endpoints.news/astrazeneca-to-onshore-rare-disease-portfolio-as-part-of-its-50b-pledge-to-the-us/
Nov 21, 2025 - AstraZeneca will invest $2 billion to expand its presence in Maryland, its latest move to boost US manufacturing as part of a larger $50 billion pledge.
rare diseaseastrazenecaportfoliopart
https://sharedhealthmb.ca/shared-stories/2024-02-27-rare-disease-day-with-dr-david-peretz/
Mar 7, 2024 - “Wilson disease should be renamed to Wilson syndrome. I say that because every patient I have met presents differently. It is still a very rare condition,...
rare diseasedr davidcalledwilsonday
https://www.statnews.com/2025/10/09/crispr-cure-baby-kj-rare-diseases-personalized-gene-editing-drugs/
Oct 9, 2025 - There is a critical gap in communication about the potential of gene therapies, and it’s hurting parents of kids with rare diseases.
rare diseaseheadlinesdisappointparentsstat
https://alpha1.org/rare-disease-day/
Nov 3, 2025 - Today is Rare Disease Day! Stand with millions around the world to raise awareness for rare conditions like Alpha-1. Get involved today!
rare diseasecelebratedayalphafoundation
https://www.statnews.com/2025/12/19/biomarin-amicus-acquisition-rare-disease-fabry-pompe/
Dec 19, 2025 - The deal, a major step for BioMarin's CEO, will bring a number of rare disease therapies under the company's roof.
rare diseasebuyfocusedamicus
https://www.jax.org/news-and-insights/2025/february/jax-researchers-alleviate-symptoms-of-ultra-rare-genetic-disease
Combining genetic therapy and bone marrow transplantation may offer comprehensive treatment solution for multiple sulfatase deficiency.
jaxresearcherssymptomsultrarare
https://www.csl.com/we-are-csl/vita-original-stories/2019/von-willebrand-disease-symptoms-0617
Women who have the bleeding disorder often go undiagnosed, Duke University doctor says.
rare diseasesvonsymptoms
https://www.pharmavoice.com/news/johnson-johnson-nipocalimab-myasthenia-gravis-rare-disease/709574/
The head of J&J’s autoantibody programs believes nipocalimab is unique among potential rare disease drugs because it can harness a common thread...
rare diseasejampgrowingfocus
https://www.nationaljewish.org/giving/why-your-gift-matters/patients/cardiology-stories/triumphing-over-a-rare-disease
Chance Daves wasn’t ready to let his hunting and fishing licenses expire anytime soon. Still active in his late 50s and spending plenty of time outdoors...
second chancerare disease
https://www.parents.com/a-mothers-fight-to-help-her-son-battle-rare-disease-11687737
On Rare Disease Day, it's important to understand the battles families face to get the help for their kids, and how you can also help.
onemotherfighthelpson
https://www.japantimes.co.jp/news/2025/12/26/world/science-health/gene-editing-superstars/
For a technology that costs millions, a collaborative approach may improve efficiency and allow the science to live up to its potential.
gene editingrare diseasesuperstarsteammake
https://www.caregiveraction.org/intimacy-in-caregiving/
Jan 19, 2025 - How to keep intimacy alive while parenting a child with a rare disease. Communication tips, spending time together, and finding balance.
rare diseaseintimacycaregivingchild
https://giveanhour.org/rare/
Nov 12, 2025 - Give an Hour announces support from the Alexion Charitable Foundation & AMGEN to support the rare disease community.
rare diseasecommunitygivehour
https://www.cnbc.com/2026/01/16/keeping-us-biotech-ahead-of-china-could-aid-rare-disease-patients-experts.html
Jan 16, 2026 - China is becoming a leader in biotech innovation. That offers hope to rare disease patients and presents a problem to American companies trying to save them.
keepingubiotechaheadchina
https://www.bbc.co.uk/news/articles/ckgkgplmvmeo
Nov 30, 2025 - Couple say screening for spinal muscular atrophy is crucial so children can get life-changing drugs.
testbabiesraregeneticdisease
https://www.mmitnetwork.com/use-case-download-norstellalinq-uncovering-new-rare-disease-patients-using-structured-unstructured-real-world-data/
Aug 19, 2025 - Discover how MMIT’s NorstellaLinQ combines structured and unstructured real-world data to quantify rare disease patients and support payer and physician...
use caserare diseasedownloaduncoveringnew
https://globalnews.ca/news/11597785/special-rare-deer-hunt-cranbrook-reduce-chronic-wasting-disease/
Jan 2, 2026 - To date, there have been six confirmed cases of chronic wasting disease in B.C. after it was first detected in B.C.'s Kootenay region in 2024.
specialraredeerhuntheld
https://www.sciencealert.com/drug-for-rare-disease-turns-human-blood-into-mosquito-poison
Mar 26, 2025 - Scientists have a radical new plan for controlling mosquito numbers and fighting malaria: lacing human blood with a drug that's poisonous for the insects,...
rare diseasedrugturnshumanblood
https://www.broadinstitute.org/news/new-ai-model-could-speed-rare-disease-diagnosis
PopEVE can identify genetic variants most likely to cause severe disease, death.
ai modelrare diseasenewcouldspeed
https://nephcure.org/
Jul 17, 2025 - Founded in 2000, NephCure is the only organization dedicated to rare, protein-spilling kidney diseases (RKD). We empower patients and lead advancements in...
kidney diseaserare
https://news.fsu.edu/news/expert-pitches/2026/02/19/rare-disease-day-2026-medical-expert-available-for-interviews-on-the-state-of-floridas-optimistic-outlook/
With Rare Disease Day approaching on Feb. 28, the Florida Institute for Pediatric Rare Diseases at the Florida State University College of Medicine is
rare diseasedaymedicalexpertavailable
https://www.channelnewsasia.com/today/up-close/stories-behind-one-eyed-tattoo-artist-4645766
SINGAPORE — Back in my junior college days, I developed an interest in journalism after watching The Post, a documentary-thriller about Washington Post...
one eyedtattoo artiststoriesbehind
https://www.jdsupra.com/legalnews/rare-disease-round-up-fda-efforts-to-6035082/
The U.S. Food and Drug Administration (FDA) will host “Rare Disease Day 2026” on February 23, aiming to engage with patients and the broader community...
rare diseaseroundfdaeffortsadvance
https://www.politico.eu/sponsored-content/rare-disease-care-progress-and-unfinished-business/
Dec 16, 2025 - The Nordic region can set the benchmark for rare-disease care in Europe, but it too must raise the bar.
rare diseaseunfinished businesscareprogresspolitico
https://events.endpoints.news/japan-drugdevelopment25
Japan stands as a promising market for the development of rare disease drugs, offering a well-structured regulatory framework and an established healthcare...
rare diseasedrug developmentunlockingpotential
https://goodnewsplanet.com/rare-disease-day-is-february-28thit-may-be-an-invisible-illness-yet-one-major-symptom-remains-relentless-hear-from-former-ncaa-all-american-hockey-player-who-is-now-a-hockey-coach/
Feb 28, 2025 - Listen to “Rare Disease Day is February 28thIT MAY BE AN “INVISIBLE ILLNESS” Yet One Major Symptom Remains Relentless Hear from Former…”...
rare diseasedayfebruarymay
https://www.mordorintelligence.com/industry-reports/rare-disease-contract-research-organization-cro-market
Feb 16, 2026 - The Rare Disease Contract Research Organization (CRO) Market worth USD 2.57 billion in 2026 is growing at a CAGR of 8.18% to reach USD 3.81 billion by 2031....
rare diseasecontract researchorganizationcromarket
https://www.ksl.com/article/51424183/how-a-rare-genetic-disease-changed-all-her-plans
Jan 2, 2026 - Tiffany Fransen shares what life is like with Friedreich's ataxia, a rare genetic disease.
raregeneticdiseasechangedplans
https://liverfoundation.org/liver-diseases/rare-disease/
Jul 20, 2022 - Some diseases of the liver are much more uncommon and rare to occur, but when they do it takes a skilled team to diagnose and treat it.
rare diseaseamericanliverfoundation