Rare diseases Research: Newest Papers and Publication Counts

• 17markets with papers since 2021
• 7,003papers on Cystic Fibrosis Therapeutics, the most

Source: PubMed, Papers added since 1 January 2021, by market search. Retrieved 12 Nov 2026.

1. 1Cystic Fibrosis Therapeutics7,003Cystic Fibrosis Therapeutics: See them on PubMed (opens in a new tab)
2. 2Sickle Cell Disease Therapeutics3,466Sickle Cell Disease Therapeutics: See them on PubMed (opens in a new tab)
3. 3Huntington's Disease Treatment2,994Huntington's Disease Treatment: See them on PubMed (opens in a new tab)
4. 4Duchenne Muscular Dystrophy Treatment2,436Duchenne Muscular Dystrophy Treatment: See them on PubMed (opens in a new tab)
5. 5Enzyme Replacement Therapy2,244Enzyme Replacement Therapy: See them on PubMed (opens in a new tab)
6. 6Rare Disease Genetic Testing899Rare Disease Genetic Testing: See them on PubMed (opens in a new tab)
7. 7Phenylketonuria Treatment677Phenylketonuria Treatment: See them on PubMed (opens in a new tab)
8. 8Lysosomal Storage Disease Treatment534Lysosomal Storage Disease Treatment: See them on PubMed (opens in a new tab)
9. 9Orphan Drugs435Orphan Drugs: See them on PubMed (opens in a new tab)
10. 10Gene Therapy for Hemophilia291Gene Therapy for Hemophilia: See them on PubMed (opens in a new tab)
11. 11Hemophilia Treatment208Hemophilia Treatment: See them on PubMed (opens in a new tab)
12. 12ALS Treatment138ALS Treatment: See them on PubMed (opens in a new tab)
13. 13Rare Disease Diagnostics69Rare Disease Diagnostics: See them on PubMed (opens in a new tab)
14. 14Amyloidosis Treatment33Amyloidosis Treatment: See them on PubMed (opens in a new tab)
15. 15Rare Disease Clinical Trial Services27Rare Disease Clinical Trial Services: See them on PubMed (opens in a new tab)
16. 16Myasthenia Gravis Treatment24Myasthenia Gravis Treatment: See them on PubMed (opens in a new tab)
17. 17Spinal Muscular Atrophy Treatment20Spinal Muscular Atrophy Treatment: See them on PubMed (opens in a new tab)

Source: PubMed, Papers added since 1 January 2021, by market search. Retrieved 12 Nov 2026.

• Medication burden among adults with cystic fibrosis prescribed CFTR Modulators: a cross-sectional survey.

  Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2026Cystic Fibrosis Therapeutics

• Health-related quality of life among adults with sickle cell disease in India: a multicentric longitudinal study of associated factors and calendar-season differences.

  Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation2026Sickle Cell Disease Therapeutics

• Chimeric models of neurodegenerative diseases: from disease mechanisms to regenerative therapies.

  Molecular neurodegeneration advances2026Huntington's Disease Treatment

• Newborn Screening for Duchenne Muscular Dystrophy: Contemporary Considerations for Implementation of an Early Diagnostic Paradigm.

  Neurology2026Duchenne Muscular Dystrophy Treatment

• Resveratrol improves behavior and neurochemical parameters in rats submitted to a Maple Syrup Urine Disease chemical model.

  Anais da Academia Brasileira de Ciencias2026Rare Disease Genetic Testing

• Efficacy and safety of sepiapterin versus sapropterin in people living with phenylketonuria: a plain language summary of the AMPLIPHY trial.

  Journal of comparative effectiveness research2026Phenylketonuria Treatment

• Restoration of BDNF/TrkB signaling rescues presynaptic dysfunction in GM1 gangliosidosis iPSC-derived neurons.

  Biochemical and biophysical research communications2026Lysosomal Storage Disease Treatment

• Admission patterns and clinical management of rare diseases in 46 pediatric intensive care units across China: a multicenter survey.

  Frontiers in pediatrics2026Orphan Drugs

• Adeno-associated virus gene therapy for hemophilia B: a comparative appraisal of the licensed products.

  Haematologica2026Gene Therapy for Hemophilia

• Coagulation Testing Practices and Guideline Adherence in Hemophilia A: A Retrospective Quality Assessment of a Dutch Expertise Hemophilia Treatment Center.

  Haemophilia : the official journal of the World Federation of Hemophilia2026Hemophilia Treatment

• Edaravone for Potential Mitigation of Oxidative Stress and Inflammation in Kidney Disease.

  Biomolecules2026ALS Treatment

• Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios.

  medRxiv : the preprint server for health sciences2026Rare Disease Diagnostics

• A primer on expert elicitation with IDEA (Investigate Discuss Estimate Aggregate) for rare disease trialists.

  Journal of rare diseases (Berlin, Germany)2026Rare Disease Clinical Trial Services

• Therapeutic approach to myasthenia gravis treatment in the era of new biologics - review of existing and upcoming therapies.

  Neurologia i neurochirurgia polska2026Myasthenia Gravis Treatment

• Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment.

  RNA biology2026Spinal Muscular Atrophy Treatment

• How to Adequately Treat Pseudomonas aeruginosa Infections.

  Seminars in respiratory and critical care medicine2026Cystic Fibrosis Therapeutics

• A non-IMiD multi-target degrader reactivates fetal hemoglobin.

  Experimental hematology & oncology2026Sickle Cell Disease Therapeutics

• Death-Associated Protein Kinase 1 (DAPK1) Signalling at the Crossroads of Apoptosis, Autophagy, and Post-transcriptional Cascades in Neurodegenerative Diseases.

  Cellular and molecular neurobiology2026Huntington's Disease Treatment

• Advancing Clinical Trials and Precision Medicine in Duchenne Muscular Dystrophy Using Machine Learning-Based Trajectory Modeling and MRI Radiomics.

  Clinical pharmacology and therapeutics2026Duchenne Muscular Dystrophy Treatment

• Pancreatic Exocrine Insufficiency Following Esophagectomy, Gastrectomy and Bariatric Surgery: A Systematic Review and Narrative Synthesis.

  World journal of surgery2026Enzyme Replacement Therapy

• Psychiatric facets of Wilson's disease: A case series.

  Indian journal of psychiatry2026Rare Disease Genetic Testing

• Beyond phenylalanine control in maternal phenylketonuria: reframing protein and amino acid requirements.

  Current opinion in clinical nutrition and metabolic care2026Phenylketonuria Treatment

• TMEM55B downregulation promotes neurodegeneration in Alzheimer's disease models.

  bioRxiv : the preprint server for biology2026Lysosomal Storage Disease Treatment

• Reimbursement status, access delays and prices of orphan drugs in France: a population-stratified analysis of indications approved between 2021 and 2024.

  Orphanet journal of rare diseases2026Orphan Drugs

Source: PubMed, Newest papers added. Retrieved 12 Nov 2026.

• Genomics
• Brain and nerves
• Biologics and biosimilars
• Diagnostics and lab testing
• Clinical trials
• Cardiovascular
• Respiratory
• Pediatric
• Cell and gene therapy
• Autoimmune diseases