Showing 13 to 24 of 32 results
Gene Editing Therapy Shows Promise for Rare Genetic Disorder
A nine-and-a-half-month-old baby in Pennsylvania with severe CPS1 deficiency, a rare genetic disorder affecting roughly one in a million infants, is thriving after receiving a custom-designed gene editing therapy using CRISPR base editing, offering hope for millions with rare genetic diseases.
Gene Editing Therapy Shows Promise for Rare Genetic Disorder
A nine-and-a-half-month-old baby in Pennsylvania with severe CPS1 deficiency, a rare genetic disorder affecting roughly one in a million infants, is thriving after receiving a custom-designed gene editing therapy using CRISPR base editing, offering hope for millions with rare genetic diseases.
Progress
32% Bias Score
Senegal Doctor Addresses Rare Disease Diagnosis Gap
Dr. Pedro Rodriguez is working to diagnose and treat rare diseases in Senegal, where limited resources and data have hindered care, using genetic testing and international collaboration to improve healthcare outcomes for those affected.
Senegal Doctor Addresses Rare Disease Diagnosis Gap
Dr. Pedro Rodriguez is working to diagnose and treat rare diseases in Senegal, where limited resources and data have hindered care, using genetic testing and international collaboration to improve healthcare outcomes for those affected.
Progress
24% Bias Score
Drug Repositioning Offers Hope for Rare Disease Treatment
Professor Guillaume Canaud's successful repositioning of a cancer drug to treat Cloves syndrome, a rare disease, highlights the potential of drug repurposing to address the treatment gap for rare diseases, offering a faster and more cost-effective alternative to traditional drug development.
Drug Repositioning Offers Hope for Rare Disease Treatment
Professor Guillaume Canaud's successful repositioning of a cancer drug to treat Cloves syndrome, a rare disease, highlights the potential of drug repurposing to address the treatment gap for rare diseases, offering a faster and more cost-effective alternative to traditional drug development.
Progress
48% Bias Score
Advocate Highlights Systemic Issues in Rare Disease Diagnosis
Following her daughter's death from a rare liver disease due to delayed diagnosis, Hélène Berrué-Gaillard advocates for earlier diagnosis and improved care for rare diseases, leading to changes in child health records and pediatric consultation schedules, and highlighting persistent systemic challen...
Advocate Highlights Systemic Issues in Rare Disease Diagnosis
Following her daughter's death from a rare liver disease due to delayed diagnosis, Hélène Berrué-Gaillard advocates for earlier diagnosis and improved care for rare diseases, leading to changes in child health records and pediatric consultation schedules, and highlighting persistent systemic challen...
Progress
44% Bias Score
Progress and Challenges in SMA Treatment in Russia
A February 19th press conference in Moscow discussed Russia's progress in SMA diagnosis and treatment, revealing 1,511 registered patients (1,004 children, 507 adults), over 95% newborn screening coverage in 2023, and the availability of three treatments including a domestic generic.
Progress and Challenges in SMA Treatment in Russia
A February 19th press conference in Moscow discussed Russia's progress in SMA diagnosis and treatment, revealing 1,511 registered patients (1,004 children, 507 adults), over 95% newborn screening coverage in 2023, and the availability of three treatments including a domestic generic.
Progress
56% Bias Score
Undiagnosed Numbness Highlights Rare Disease Diagnostic Challenges in Germany
A 63-year-old German man, Bernward Wittschier, suffers from progressive, undiagnosed numbness and swallowing difficulties for ten years, highlighting the challenges of diagnosing rare diseases affecting approximately 4 million people in Germany.
Undiagnosed Numbness Highlights Rare Disease Diagnostic Challenges in Germany
A 63-year-old German man, Bernward Wittschier, suffers from progressive, undiagnosed numbness and swallowing difficulties for ten years, highlighting the challenges of diagnosing rare diseases affecting approximately 4 million people in Germany.
Progress
28% Bias Score
Losartan Shows Promise for Butterfly Skin, but Funding for Clinical Trial Remains a Challenge
Losartan, a hypertension drug, shows promise in treating epidermolysis bullosa (butterfly skin) lesions, but a €5-10 million clinical trial is needed for EMA approval, highlighting challenges in repurposing drugs for rare diseases.
Losartan Shows Promise for Butterfly Skin, but Funding for Clinical Trial Remains a Challenge
Losartan, a hypertension drug, shows promise in treating epidermolysis bullosa (butterfly skin) lesions, but a €5-10 million clinical trial is needed for EMA approval, highlighting challenges in repurposing drugs for rare diseases.
Progress
36% Bias Score
Congress Weighs Reauthorization of Life-Saving Pediatric Drug Incentive Program
Congress can reauthorize the expired Pediatric Priority Review Voucher (PPRV) program to incentivize pharmaceutical companies to develop treatments for rare pediatric diseases without taxpayer costs; the program has already facilitated the approval of 50 life-saving treatments for 40 diseases.
Congress Weighs Reauthorization of Life-Saving Pediatric Drug Incentive Program
Congress can reauthorize the expired Pediatric Priority Review Voucher (PPRV) program to incentivize pharmaceutical companies to develop treatments for rare pediatric diseases without taxpayer costs; the program has already facilitated the approval of 50 life-saving treatments for 40 diseases.
Progress
52% Bias Score
France's 2025-2030 Plan: Accelerating Rare Disease Diagnosis and Treatment
France's new 2025-2030 plan for rare diseases aims to improve patient care by strengthening the relationship between general practitioners and hospitals, accelerating diagnoses through increased lab testing capacity, and expanding newborn screening to include more conditions; coordinated by Pr Guill...
France's 2025-2030 Plan: Accelerating Rare Disease Diagnosis and Treatment
France's new 2025-2030 plan for rare diseases aims to improve patient care by strengthening the relationship between general practitioners and hospitals, accelerating diagnoses through increased lab testing capacity, and expanding newborn screening to include more conditions; coordinated by Pr Guill...
Progress
44% Bias Score
Italian Hospital's AI-Powered Screening Improves Rare Disease Diagnosis
The Giovanni XXIII hospital in Bari, Italy, announced that its neonatal screening center identified 31 newborns with rare diseases in 2024, enabling early diagnosis and treatment; since 2017, 492 newborns have been helped through this program, which uses robotic technology and AI to speed up the pro...
Italian Hospital's AI-Powered Screening Improves Rare Disease Diagnosis
The Giovanni XXIII hospital in Bari, Italy, announced that its neonatal screening center identified 31 newborns with rare diseases in 2024, enabling early diagnosis and treatment; since 2017, 492 newborns have been helped through this program, which uses robotic technology and AI to speed up the pro...
Progress
32% Bias Score
NIH Funding Cuts Threaten Children with Rare Cancers
Six-year-old Cailen Vela battles a rare, aggressive cancer that has relapsed, requiring extensive treatment and placing a strain on his family; proposed NIH funding cuts threaten access to advanced therapies for him and other children with similar conditions.
NIH Funding Cuts Threaten Children with Rare Cancers
Six-year-old Cailen Vela battles a rare, aggressive cancer that has relapsed, requiring extensive treatment and placing a strain on his family; proposed NIH funding cuts threaten access to advanced therapies for him and other children with similar conditions.
Progress
56% Bias Score
First Spanish Child Cured of Wiskott-Aldrich Syndrome via Gene Therapy
Five-year-old Javier, diagnosed with Wiskott-Aldrich syndrome at six months old, is the first child in Spain cured using gene therapy; this case highlights the potential of gene therapy and challenges of accessing innovative treatments for rare diseases affecting less than 1 in 250,000 male births.
First Spanish Child Cured of Wiskott-Aldrich Syndrome via Gene Therapy
Five-year-old Javier, diagnosed with Wiskott-Aldrich syndrome at six months old, is the first child in Spain cured using gene therapy; this case highlights the potential of gene therapy and challenges of accessing innovative treatments for rare diseases affecting less than 1 in 250,000 male births.
Progress
40% Bias Score
Showing 13 to 24 of 32 results