The diversity of Pamela Sklar’s titles, positions and publications attest to her excellence and leadership in genetics, clinical psychiatry and neuroscience. The main focus of her work was to identify the genomic underpinnings of highly heritable psychiatric disorders, particularly schizophrenia and bipolar disorder. She played a key role in initiating the current era of successful discovery in psychiatric genomics and launched multiple follow-on efforts for the mechanistic understanding of etiology and pathogenesis.

Credit: Pamela Sklar (1959–2017)

Pamela obtained a BA in classics and philosophy at St. John’s College in Annapolis, Maryland, followed by an MD and a PhD at Johns Hopkins University, the latter in neuroscience under the supervision of Solomon Snyder. She completed psychiatric training at Columbia University in New York while also working as a postdoctoral fellow in Molecular Biology in Richard Axel’s laboratory at Columbia. Following these key formative exposures to cutting-edge science in world-leading laboratories, her studies of psychiatric genetics, the field for which she is best known, began in earnest in Boston, where she worked as a clinician at Massachusetts General Hospital while pursuing her research career at the Whitehead Institute of MIT and then the Broad Institute of MIT and Harvard. It was in Boston that she set the wheels in motion for the International Schizophrenia Consortium and, with colleagues in the UK and the United States, the first large bipolar disorder collaboration. Together, these consortia provided some of the most important breakthroughs in psychiatric genetics for both common and rare variation and defined much of what we know about the genomic architectures of major psychiatric disorders. She was a founding member of the Psychiatric Genomics Consortium (PGC) and co-led the PGC Bipolar Disorder working group for a decade.

Her drive, vision, leadership, frankness and toughness of character, combined with her ability to form strong and trusting professional relationships, were pivotal in building the spirit of international cooperation. We now take international cooperation for granted. When Pamela began these consortia, most research groups were deeply reluctant to collaborate. History occasionally kicks up the right person at the right time: Pamela’s force of personality, intellectual brilliance, uncompromising rigor and deep understanding of clinical, design, technical and analytic issues made her the right person to catalyze the cooperation that was needed to transform her field and which has proven to be critical to the recent successes in psychiatric genomics. Pamela was a key player in the foundation of the Stanley Center for Psychiatric Research and, as its first Director of Genomics, began its ascent to the forefront of psychiatric genomics.

After these major successes, Pamela returned to New York in 2011. At the Mount Sinai School of Medicine as Chief of the Division of Psychiatric Genomics, she rapidly established Mount Sinai as one of the world’s pre-eminent centers for psychiatric genomics. Her discovery genomic studies continued with great success. She led the first large-scale whole-exome sequencing study in schizophrenia. With her work on common polymorphisms and rare copy number variants, her research mapped for the first time a solid draft for the genetic architecture and landscape of major mental illnesses.

Pamela was one of the first in our field to recognize that genomics could not alone provide mechanistic insights into psychiatric disorders and that large-scale functional genomic data from the brain were needed. She played crucial roles in establishing the CommonMind and the PsychENCODE consortia, each of which represents major endeavors towards the goals of annotating the function of the genome in the human brain, which is increasingly central to interpreting the genomics studies.

In recognition of her contributions to science, she was elected to the National Academy of Medicine in 2013, received the Colvin Prize from the Brain and Behavior Research Foundation in 2016, and in 2017 was awarded the Lifetime Achievement Award from the International Society of Psychiatric Genetics.

Pamela will be deeply missed, professionally and personally, by her colleagues, trainees and many friends in the psychiatry and genetics worlds and, most importantly, by her husband, Andy Chess, and her children, Michael and Isabel.