Aspire4Rare Guides Health System Reforms for Rare Diseases
Aspire4Rare, using the WHO's health system building blocks, assesses rare disease system preparedness across six areas, guiding health system reforms and impacting national strategies in Germany and Spain by highlighting critical gaps and prioritizing areas for improvement.
Aspire4Rare Guides Health System Reforms for Rare Diseases
Aspire4Rare, using the WHO's health system building blocks, assesses rare disease system preparedness across six areas, guiding health system reforms and impacting national strategies in Germany and Spain by highlighting critical gaps and prioritizing areas for improvement.
Progress
32% Bias Score
Spanish TV Show Highlights Rare Disease Advocacy
Noah Higón, a 26-year-old with seven rare diseases, appeared on the Spanish TV show La Revuelta, advocating for increased research funding and highlighting the challenges faced by millions of people with rare diseases in Spain.
Spanish TV Show Highlights Rare Disease Advocacy
Noah Higón, a 26-year-old with seven rare diseases, appeared on the Spanish TV show La Revuelta, advocating for increased research funding and highlighting the challenges faced by millions of people with rare diseases in Spain.
Progress
20% Bias Score
Genomic Newborn Screening: Potential Benefits and Ethical Concerns
Newborn screening detects rare diseases in 0.1% of babies, but genomic screening could detect more, though a more targeted approach is proposed in Germany, addressing ethical concerns and high costs (currently €1200 per genome).
Genomic Newborn Screening: Potential Benefits and Ethical Concerns
Newborn screening detects rare diseases in 0.1% of babies, but genomic screening could detect more, though a more targeted approach is proposed in Germany, addressing ethical concerns and high costs (currently €1200 per genome).
Progress
44% Bias Score
Diagnóstico genético identifica el origen de enfermedades neuromusculares en niños
Una nueva plataforma de diagnóstico genético ha identificado la causa de enfermedades neuromusculares en 23 niños, utilizando secuenciación del genoma en trío y del transcriptoma, logrando una tasa de éxito del 40% en un estudio de 58 pacientes pediátricos.
Diagnóstico genético identifica el origen de enfermedades neuromusculares en niños
Una nueva plataforma de diagnóstico genético ha identificado la causa de enfermedades neuromusculares en 23 niños, utilizando secuenciación del genoma en trío y del transcriptoma, logrando una tasa de éxito del 40% en un estudio de 58 pacientes pediátricos.
Progress
32% Bias Score
Russian Boy with Duchenne Muscular Dystrophy Needs $3 Million for Gene Therapy
Vladislav Paradov, a Russian boy, was diagnosed with Duchenne muscular dystrophy (DMD) at age three, a condition that until recently had no cure. His family is now fundraising $3 million for a new gene therapy treatment available in Dubai.
Russian Boy with Duchenne Muscular Dystrophy Needs $3 Million for Gene Therapy
Vladislav Paradov, a Russian boy, was diagnosed with Duchenne muscular dystrophy (DMD) at age three, a condition that until recently had no cure. His family is now fundraising $3 million for a new gene therapy treatment available in Dubai.
Progress
48% Bias Score
UK Drug Approval Delays Cause Anxiety for Patients
Mike Thomas, diagnosed with MND in 2022, is experiencing slowed deterioration thanks to tofersen via an early access program; however, the drug's uncertain NHS future and differing access across the UK (exemplified by Sara and David's situations with omaveloxolone) highlight challenges in the nation...
UK Drug Approval Delays Cause Anxiety for Patients
Mike Thomas, diagnosed with MND in 2022, is experiencing slowed deterioration thanks to tofersen via an early access program; however, the drug's uncertain NHS future and differing access across the UK (exemplified by Sara and David's situations with omaveloxolone) highlight challenges in the nation...
Progress
48% Bias Score
Gene Therapy Shows Promise in Treating Fanconi Anemia
A Spanish-led team successfully used gene therapy to treat Fanconi anemia in nine children, achieving significant improvements and offering a safer alternative to bone marrow transplants.
Gene Therapy Shows Promise in Treating Fanconi Anemia
A Spanish-led team successfully used gene therapy to treat Fanconi anemia in nine children, achieving significant improvements and offering a safer alternative to bone marrow transplants.
Progress
16% Bias Score
Technology and Collaboration Improve Rare Disease Care in Piedmont
Piedmont, Italy addresses healthcare challenges for over 55,000 rare disease patients by leveraging technology and improving healthcare access and coordination.
Technology and Collaboration Improve Rare Disease Care in Piedmont
Piedmont, Italy addresses healthcare challenges for over 55,000 rare disease patients by leveraging technology and improving healthcare access and coordination.
Progress
0% Bias Score