World’s largest autism genome database expands
May 15, 2024
Autism Speaks’ MSSNG database, the world’s largest autism whole-genome dataset, recently expanded to include an additional 2,489 fully sequenced genomes in the project’s cloud-based dataset. Genomic data is now available for 13,801 individuals, including over 6,000 autistic people and over 7,000 of their family members.
“I am thrilled to see the continued expansion of the MSSNG database and am grateful to all of the families who have participated thus far,” says Dr. Dean Hartley, senior director of genetic discovery and translational science at Autism Speaks. “With every individual who contributes their genomic information to the MSSNG project, we come one step closer to understanding the genetics of autism and developing personalized medical treatments and supports that allow us to precisely address autistic individuals’ unique challenges.”
With every individual who contributes their genomic information to the MSSNG project, we come one step closer to understanding the genetics of autism and developing personalized medical treatments and supports that allow us to precisely address autistic individuals’ unique challenges.
Launched in 2015, the MSSNG database is a collaboration between Autism Speaks, The Hospital for Sick Children (SickKids), DNAstack, McGill University and Verily. To date, MSSNG is freely sharing data globally in 67 institutions across 15 countries, enabling a wave of transformational autism research studies.
In recent years, researchers leveraging the MSSNG platform have identified a host of previously unknown genes linked to autism spectrum disorder (ASD). In a 2022 study, researchers from SickKids found 134 genes linked with ASD and discovered a range of genetic changes, most notably gene copy number variations (CNVs), likely to be associated with autism, including ASD-associated rare variants in about 14% of participants with autism.
Families who have participated in the MSSNG program are also seeing a real-life impact. Read two families’ stories on how participating in the MSSNG program improved their understanding of their son’s autism and helped them seek out personalized healthcare.
