Insurance Red Tape Keeps Blistering Disease Patients From Lifesaving Biologics
A new survey of United States patients with autoimmune blistering diseases documents how insurance requirements such as prior authorization and ...
Tag: rare disease
Skin Signs Reveal Hidden Metabolic Disease in One in Four Children
A 13-year cohort study of over 1,000 children with inherited metabolic disorders found that nearly one in four showed skin ...
Topical Gene Therapy B-VEC Offers New Hope for Butterfly Skin Disease
A new review confirms that beremagene geperpavec, the first FDA-approved topical gene therapy, significantly improves wound healing in dystrophic epidermolysis ...
Rare Childhood Bleeding Disorder Traced to Two New ADAMTS13 Gene Variants
A Chinese pediatric case series has identified two previously unreported ADAMTS13 gene variants in children with hereditary thrombotic thrombocytopenic purpura, ...
Rare Disease Patients Turn Lived Experience Into a Blueprint for Better Research
Two women living with the rare skin condition Congenital Melanocytic Naevus argue in PLOS Medicine that patient partnership must shape ...
Experts Project Lower Lifelong Organ Damage Risk With Recombinant ADAMTS13 in Rare Blood Clotting Disorder
A structured expert elicitation study projects substantially lower long-term organ damage risks for congenital thrombotic thrombocytopenic purpura patients receiving recombinant ...
Million-Dollar Cures: Why Insurance Policy Now Decides Which Children Get Gene Therapy
A new Pediatric Research commentary argues that insurance coverage and reimbursement policy, not the underlying science, now determine which children ...
Telomere Gene NHP2 Linked to Nerve-Driven Muscle Wasting in Rare Family Study
A Norwegian family study reveals that muscle wasting in NHP2-related dyskeratosis congenita is driven by neurogenic degeneration, linking telomere biology ...
First Mosaic Case Rewrites the Genetic Story of a Rare Overgrowth Syndrome
Researchers report the first known case of Cohen–Gibson syndrome caused by a mosaic EED variant, expanding the mutational spectrum of ...
Mouse Models Show Teeth Can Expose Hidden Signs of Rare Bone Disease
New knock-in mouse models of hypophosphatasia show that specific ALPL gene variants shape dental symptoms independently of blood enzyme levels, ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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