Categoría: Articulos
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Hereditary lung and liver disease successfully treated for the first time using gene correction
Alpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily damages the lungs and th…
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Rapid genome sequencing helps guide care for about 50% of children with cancer
Two studies involving investigators at Cedars-Sinai Guerin Children’s and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood conditions such as cerebral pa…
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Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approaches
WHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
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Navigating the complexity of BRCA1/BRCA2 constitutional mosaicism: a case report and literature review exploring clinical, molecular and genetic counselling approaches
WHAT IS ALREADY KNOWN ON THIS TOPICConstitutional mosaicism resulting from postzygotic events affecting BRCA1 or BRCA2 is extremely rare.It can evade conventional germline testing strategies and complicate cancer risk assessment and genetic counselling…
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Subtype-specific mutations drive relapse risk in most common childhood leukemia
Some cases of the most common childhood cancer, B-cell acute lymphoblastic leukemia (B-ALL), return after treatment—and genetic changes present from the start may help explain why. Scientists at St. Jude Children’s Research Hospital and Seattle Childre…
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Researchers identify connection between pulmonary hypertension and cognitive impairment
University of Pittsburgh and UPMC researcher-clinicians have uncovered why many pulmonary hypertension patients report symptoms of cognitive decline.
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…
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The new article is now available. Intractable & Rare Diseases Research
[ Advance Publication ] [ Title ] Disability outcome and associated factors in patients with myotonic dystrophy type 1: A retrospective cohort analysis [ Author ] Wenhan Zhang,Huahua Zhong,Yuean Yang,Fangyuan Qian,Zhijie Lu,Li Zeng,Jing Miao,Xuefan Yu…