By Hannah Thomasy Are sexual preferences genetic? According to a recent paper in Science, the answer is at least partially yes. By screening close to 500,000 DNA samples, researchers identified five locations in the genome that were significantly associated with same-sex sexual behaviour. “This work supports the notion that there is a biological component to… Read More »
The Department of Veterans Affairs’ Million Veteran Program is three-quarters of the way to reaching its enrollment goal, with the aim of bringing precision medicine to VA healthcare. With 750,000 participants currently enrolled, the agency says it has reached a major milestone and has one of the world’s largest genomic databases as part of a… Read More »
Ahmed SA, Zengeya S, Kini U, Pollard AJ. Familial isolated congenital asplenia: case report and literature review. Eur J Pediatr. 2010 Mar;169(3):315-8. doi: 10.1007/s00431-009-1030-0. Epub 2009 Jul 19. Review. Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F,… Read More »
Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A,… Read More »
Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16. Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P,… Read More »