Late Breaking Studies Identify Novel Genetic Contributors to Autism, Pancreatic Disease, and a Common Pediatric Cancer

Published: Wednesday, October 20, 2021, 5:30 p.m. U.S. Eastern Time

Media Contact: Kara Flynn, (202) 257-8424,


Four new discoveries presented at the ASHG 2021 Annual Meeting are providing novel insights into the genetics basics of human diseases and disorders, including autism spectrum disorder, pancreatic agenesis, and rhabdomyosarcoma, the most common soft tissue cancer in children. The studies will be presented during the Late Breaking Abstract Session of the Annual Meeting on Wednesday, October 20 from 5:30 p.m. to 6:50 p.m. U.S. Eastern Time. New findings include:

  • Genetic analysis is identifying an increasing number of shared biologic pathways among different disease groups, according to Wenhan Lu, MS from the Broad Institute at the Massachusetts Institute of Technology and Harvard University and colleagues. They investigated rare pleiotropic variants — variants in a single gene contributing to multiple phenotypic traits — in human diseases. The researchers used exome sequencing, a technique for sequencing all the protein-coding regions of genes in a genome, to evaluate the impact of rare coding variation in samples from the UK Biobank. The findings provide a resource which may position researchers to discover new biology.
  • Genetics research is revealing new associations between parental age and Autism Spectrum Disorder (ASD), one of several findings from Jonathan Sebat, PhD, University of California, San Diego and his team. They investigated several rare and common genetic factors to learn more about how combinations of factors determine risk for ASD. The researchers found that multiple genetic factors were associated with differing sets of behavioral traits with effects that differed by sex. Overall, the results suggest that the broad phenotypic spectrum of ASD is in part due to genetic factors that influence different molecular and neurodevelopmental processes.
  • The loss of a gene named ZNF808 has been identified as a genetic cause of pancreatic agenesis, a condition that may result in neonatal diabetes due to deficits in the development of the pancreas, according to Elisa De Franco, PhD at the University of Exeter Medical School and colleagues. They performed exome sequencing in individuals with neonatal diabetes to discover genes essential for human pancreas development. The evolutionary origin of ZNF808 can be traced to a common ancestor in Old World monkeys and apes. This study is the first report linking the loss of a primate-specific gene as a cause of a developmental disease in humans.
  • Damaging variants in cancer predisposition genes significantly impact survival in patients with rhabdomyosarcoma (RMS), according to Bailey Martin-Giacalone, BS, Baylor College of Medicine and colleagues. They reported the results of exome sequencing of children and young adults with RMS, the most common soft tissue cancer in children. The researchers suggest that children diagnosed with RMS should undergo genetic testing and subsequent family genetic counseling, if necessary.

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Lu, W., et al. (October 20, 2021). Abstract: Quantifying the extent of pleiotropy using rare variant association data in 281,850 human exomes. Presented at the American Society of Human Genetics 2021 Annual Meeting.

Sebat, J., et al. (October 20, 2021). Abstract: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Presented at the American Society of Human Genetics 2021 Annual Meeting.

De Franco, E., et al. (October 20, 2021). Abstract: Loss of the primate-specific gene ZNF808 causes pancreatic agenesis. Presented at the American Society of Human Genetics 2021 Annual Meeting.

Martin-Giacalone, B., et al. (October 20, 2021). Abstract: Germline pathogenic variants in cancer predisposition genes predict survival for children with rhabdomyosarcoma: a report from the Children’s Oncology Group. Presented at the American Society of Human Genetics 2021 Annual Meeting.

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Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics and Human Genetics and Genomics Advances; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit:

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