Tag: Genetic Disorders
CSF RT-QuIC Has High Diagnostic Specificity, Sensitivity for Prions
Diagnostic specificity, sensitivity of 98.5, 92 percent, respectively, in blinded retrospective analysis
Tx Response No Different for Migalastat, Placebo in Fabry’s
Percentage of patients with response at six months doesn't differ with migalastat, placebo treatment
Drug Shows Promise for Genetic Proopiomelanocortin Deficiency
After 10 months of daily treatment, one patient lost 112 lbs; another lost 45 lbs in three months
Next-Generation Sequencing Can ID Rare Diseases in Newborns
Technique, performed in a hospital-based laboratory, offers timely results
Ethical Framework Developed for Genomic Testing Results
Discussion of professionally responsible disclosure of results to parents and pediatric patients
35% of Colorectal Cancers in Patients Age ≤35 Are Genetic
Study authors recommend that people diagnosed before age 35 get tested
IGF2 Variant Affects Prenatal and Postnatal Growth
Severe growth restriction for family members who inherit the variant through paternal transmission
Genetic Mutations May Impact Outcomes in Aplastic Anemia
Genetic evaluation may help predict prognosis in aplastic anemia
Afamelanotide Beneficial in Erythropoietic Protoporphyria
Improvement in number of hours of direct exposure to sunlight without pain, quality of life
‘Most Comprehensive Map’ of Human Epigenomes Presented
Result of years of work by an international consortium of researchers
