Careers & Learning

Trainee Author: Alina Kurolap, RN, MSc PhD Student, Medical Sciences Technion – Israel Institute of Technology, the Ruth and Bruce Rappaport Faculty of Medicine (Photo courtesy Kurolap) Kurolap A, Armbruster A, et al. Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrosipinal fluid glycine. AJHG. 2016 Nov... Read More

Sarah A. Gagliano, ASHG: What is the focus of your research? Dr. Zeggini: My research uses large-scale biomedical data to identify genetic causes of complex traits, with a primary focus on musculoskeletal diseases and cardiometabolic traits. Our activities are underpinned by the development of methods to advance statistical genetics approaches. ASHG: What aspects of your... Read More

Trainee Author: Zafar Iqbal, PhD Researcher Oslo University Hospital, Oslo, Norway (Photo courtesy Iqbal) Riazuddin S, Hussain M, Razzaq A, Iqbal Z, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry (2017) 22, 1604-1614 This multi-investigator exome sequencing project aims to discover pathogenic mutations for... Read More

  Trainee Author: Ryan Collins, AB PhD Candidate, Program in Bioinformatics and Integrative Genomics Harvard Medical School (Photo courtesy Collins) Collins RL et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology. 2017 Mar 6; 18 (1): 36 This study expands our understanding of the... Read More

Founder DNASimple Dr. Noel was recently recognized in Forbes’ 30 Under 30 Science list and received a $200,000 investment on ABC’s Shark Tank for his company. Burcu Darst, ASHG: Could you tell us about your company, DNAsimple? Dr. Noel: DNAsimple is a marketplace where researchers, particularly those in genetics/genomics, can find and obtain DNA and other specimens from the... Read More