Tag Archives: genetics

VA enrolls 750,000 participants in genetics research initiative

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 »

Genetics Home Reference: isolated congenital asplenia

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 »

Genetics Home Reference: Wiedemann-Rautenstrauch syndrome

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 »