Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
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Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
read more
read less
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Psychology in Medical Settings on January 28, 2024, titled "Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study."
Read the paper here: https://link.springer.com/article/10.1007/s10880-023-09991-z
Learn more about BBDC: https://bbd.rarediseasesnetwork.org
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journal Clinical and Translational Gastroenterology on February 6, 2024, titled "A Multicenter Long-Term Cohort Study of Eosinophilic Esophagitis Variants and Their Progression to EoE Over Time."
Read the paper here: https://journals.lww.com/ctg/abstract/9900/a_multicenter_long_term_cohort_study_of.233.aspx
Learn more about CEGIR: https://cegir.rarediseasesnetwork.org
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the Journal of Neurology, Neurosurgery, & Psychiatry on October 12, 2023, titled "Temporal course of cognitive and behavioural changes in motor neuron diseases."
Read the paper here: https://jnnp.bmj.com/content/95/4/316
Learn more about CReATe: https://create.rarediseasesnetwork.org
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders on February 3, 2024, titled "An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.29734
Learn more about DC: https://dc.rarediseasesnetwork.org
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on January 6, 2024, titled "Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)."
Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-023-09515-8
Learn more about LDN: https://ldn.rarediseasesnetwork.org
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Nature Reviews Neurology on January 8, 2024, titled "Myasthenia gravis: the changing treatment landscape in the era of molecular therapies."
Read the paper here: https://www.nature.com/articles/s41582-023-00916-w
Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Kidney International in February 2024 titled "Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today."
Read the paper here: https://www.kidney-international.org/article/S0085-2538(23)00847-5/fulltext
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Pediatric Nephrology on January 18, 2024, titled "Pediatric contributions and lessons learned from the NEPTUNE cohort study."
Read the paper here: https://link.springer.com/article/10.1007/s00467-023-06256-7
Learn more about NEPTUNE: https://www.neptune-study.org
New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in the Journal of Inherited Metabolic Disease on July 4, 2023, titled "State-of-the-art 2023 on gene therapy for phenylketonuria."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12651
Learn more about PHEFREE: https://phefree.rarediseasesnetwork.org
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Blood on December 14, 2023, titled "Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD."
Read the paper here: https://ashpublications.org/blood/article-abstract/142/24/2105/497415/Genotype-oxidase-status-and-preceding-infection-or?redirectedFrom=fulltext
Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org