Whole-genome sequencing susses out rare diseasesWhole-genome sequencing offers a more comprehensive solution for diagnosing rare genetic diseases than traditional exome sequencing.
Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.AI-driven treatment options can significantly impact the care of patients with rare diseases.Persistence in seeking unconventional solutions can lead to unexpected and life-saving outcomes.
For kids with rare genetic disorders, customized CRISPR treatments offer hopeLucy Landman suffers from a rare genetic disorder with no current treatment; CRISPR shows promise, yet funding remains a critical hurdle for research.
Why Early Diagnosis of PAH is So ImportantIncreasing awareness of pulmonary arterial hypertension (PAH) is crucial for early diagnosis and better patient management.
Drugs Have Uses We Can't Imagine. He's Using A.I. to Find Them.AI-driven treatment options can significantly impact the care of patients with rare diseases.Persistence in seeking unconventional solutions can lead to unexpected and life-saving outcomes.
For kids with rare genetic disorders, customized CRISPR treatments offer hopeLucy Landman suffers from a rare genetic disorder with no current treatment; CRISPR shows promise, yet funding remains a critical hurdle for research.
Why Early Diagnosis of PAH is So ImportantIncreasing awareness of pulmonary arterial hypertension (PAH) is crucial for early diagnosis and better patient management.
Dublin girl with rare skin disease excited to go to secondary schoolCasey Connors, 12, is preparing for secondary school while managing her condition, epidermolysis bullosa, with strong family and community support.
Gene therapy experiment gives children 'life-changing' sight boost at London hospitalPioneering gene therapy restores sight in young children with a rare genetic condition.
The second revolution in gene therapy that has cured Javier, a child with a lethal error in the X chromosomeA small sign led to diagnosis of Wiskott-Aldrich syndrome, which was overcome through groundbreaking gene therapy.
Gene therapy experiment gives children 'life-changing' sight boost at London hospitalPioneering gene therapy restores sight in young children with a rare genetic condition.
The second revolution in gene therapy that has cured Javier, a child with a lethal error in the X chromosomeA small sign led to diagnosis of Wiskott-Aldrich syndrome, which was overcome through groundbreaking gene therapy.
He Could Hear Everything, But Couldn't Move Or Speak - This Man Survived Being "Locked-In" For 10 MonthsJake's journey illustrates the severe impact of ATPL, a rare brain disease, transforming his life and perception over several years.
Influencer opens up about living with 'extremely rare eye condition'Gerry, a beauty influencer, has megalocornea, a rare condition that causes large eyes, emphasizing their natural appearance over cosmetic enhancements.
He Could Hear Everything, But Couldn't Move Or Speak - This Man Survived Being "Locked-In" For 10 MonthsJake's journey illustrates the severe impact of ATPL, a rare brain disease, transforming his life and perception over several years.
Influencer opens up about living with 'extremely rare eye condition'Gerry, a beauty influencer, has megalocornea, a rare condition that causes large eyes, emphasizing their natural appearance over cosmetic enhancements.
5 health bills impacting California patients in 2025California's new health-related laws aim to enhance access and reduce financial barriers for patients with chronic and rare diseases starting January 1, 2025.
Can AI shake-up translational research?AI-driven tools like the Biomedical Data Translator can expedite treatment for rare diseases, offering hope in translational medicine.
Using AI to repurpose existing drugs for treatment of rare diseases - Harvard GazetteAn AI tool called TxGNN can identify drug candidates for over 17,000 rare diseases, potentially addressing many previously untreated conditions.
Can AI shake-up translational research?AI-driven tools like the Biomedical Data Translator can expedite treatment for rare diseases, offering hope in translational medicine.
Using AI to repurpose existing drugs for treatment of rare diseases - Harvard GazetteAn AI tool called TxGNN can identify drug candidates for over 17,000 rare diseases, potentially addressing many previously untreated conditions.
Exploring the Elusive Genetic Causes of Rare Autoimmune Disease - News CenterThe study reveals new genetic insights into APECED, identifying non-coding mutations that impair the AIRE gene's function in patients lacking typical variants.
A disease that makes children age rapidly gets closer to a cureGene editing may offer hope for treating ultrarare conditions like progeria, potentially paving the way for treatments for other genetic diseases.
A Disease That Makes Children Age Rapidly Gets Closer to a CureA cure for progeria through gene editing may be imminent.
A disease that makes children age rapidly gets closer to a cureGene editing may offer hope for treating ultrarare conditions like progeria, potentially paving the way for treatments for other genetic diseases.
A Disease That Makes Children Age Rapidly Gets Closer to a CureA cure for progeria through gene editing may be imminent.
Imagine getting life-saving drugs to sick people without relying on big pharma? We may have found a way | Dr Catriona CrombieHealthcare providers are finding innovative ways to make life-saving treatments more accessible for patients with rare diseases.
AI Is Transforming Drug Matching for Cancer, Rare Diseases | EntrepreneurAI tools are revolutionizing drug discovery for rare diseases by repurposing existing medications, leading to cost-effective and efficient screening processes.
Is Cord-Blood Banking Worth It?Umbilical cord blood banking can be costly and may not be necessary for all families, especially those without a specific disease history.