Evan Eichler reconstructs the evolution of chromosome 16p11.2 and finds most disease-causing rearrangements map within a H. sapiens-specific duplication containing BOLA2.

Pamela Feliciano discusses the motivation behind SPARK and insights gained from the initial phases of the project.

SFARI is pleased to announce that it has selected six finalists in response to the Bridge to Independence Award request for applications. This new awards program is intended to invest in the next generation of top autism investigators by identifying talented early-career scientists and facilitating their transition to an independent research career.

SFARI launched a request for applications in early 2015 that sought proposals to develop medium- and high-throughput screens to test the functional effects of de novo missense variants identified in the Simons Simplex Collection and other autism cohorts. Here, SFARI Senior Scientist Alan Packer discusses the proposals that were selected for funding as well as highlighting recent papers that have provided functional evidence for missense variants contributing to autism and other disorders.

Today, we’re announcing our annual request for applications (RFA) for SFARI Pilot and Research Awards. Letters of intent (LOIs), the short statements that precede full applications, are due no later than 9 October, 2015. As we do every year, we’ve updated this column to provide a better picture of how the SFARI science team makes decisions on research proposals.

For individuals with autism, a trip to the clinic — an unfamiliar place with strange people and instruments — can be exceedingly stressful. And as many genetic databases for autism include tens of thousands of participants, it is increasingly challenging for researchers to do in-person assessments for each individual. On 14 February, SFARI hosted a workshop to explore the benefits and pitfalls of using online tools to help collect data from individuals with autism.

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell's structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

Glia were once thought to play a secondary role to neurons in the brain. But studies in the past few years have shown that they may be involved in many brain disorders, including autism. On 7 December, SFARI and the Rett Syndrome Research Trust organized a meeting of scientists working on the intersection of glia with autism and Rett syndrome.

A study on a SHANK3 mutation highlights the danger in using research tools to inform decision-making in the doctor’s office. This sort of concern is one of the reasons for SFARI Gene’s new efforts to develop criteria for evaluating the strength of autism gene candidates, and presenting this information to the broader community.