Young Investigator Award Fellowship

Phelan-McDermid Syndrome Foundation/Developmental Synaptopathies Consortium

We are seeking highly qualified postdoctoral applicants with an MD, PhD, or MD/PhD, for the Phelan-McDermid Syndrome Foundation/Developmental Synaptopathies Consortium Young Investigator Fellowship.

The ideal candidate has a clinical and/or research background in psychiatry, psychology, or neurology with a focus on neuro developmental disorders, and seeks to complement their expertise to become a leader in this growing field.

The fellow will help characterize neuropsychiatric phenotypes in patients with Phelan-McDermid syndrome (PMS). PMS is a rare genetic condition caused by a deletion or other structural change of the terminal region of chromosome 22 or a disease-causing sequence variant of theSHANK3gene. PMS is commonly associated with hypotonia, intellectual disability, and delayed or absent speech. Data is emerging that a subset of individuals with PMS experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia. The goal of this fellowship is to deeply characterize these psychiatric symptoms and/or explore their biological underpinnings.

The fellow will work within the NIH-funded Developmental Synaptopathies Consortium (DSC), a Rare Disease Clinical Research Network, under the training of leaders in the field with a pre-established infrastructure for recruiting and phenotyping large numbers of individuals with this rare disorder.

The training environment afforded by the Consortium includes access to PMS investigators, clinicians, and affected individuals, as well as interaction with other groups working on related genetic disorders-tuberous sclerosis complex and PTEN hamartoma tumor syndrome. Priority will be given to fellows motivated to utilize the rich datasets that have been generated by the DSC, including genetic, behavioral phenotyping, electrophysiological studies, neuroimaging and bio sample collections. Although the primary research focus should be PMS, cross-comparison of datasets within the disorders is encouraged. Areas of potential research include, but are not limited to, mechanistic studies of neuropsychiatric decompensation and regression in PMS, deep phenotyping of neuropsychiatric symptoms in PMS, development of clinical guidelines for assessment and care of people with PMS who experience neuropsychiatric decompensation, and outcome measure development for use in clinical trials in PMS. Details describing the research resources available through the DSC are described in Appendix 1of this document.

Two years in duration, MD/PhD level candidates.

• Includes salary, fringe and research stipend up to $110,000 per year ($100,000 direct costs, $10,000 indirect)

This opportunity is open to all early career investigators working in a relevant field (neurology, psychiatry, or psychology, and/or a focus in neurodevelopmental disorders or rare disorders). Funding is not restricted to US residents or citizens.

The fellow will work closely with a Developmental Synaptopathies Consortium (DSC) mentor during the fellowship and is required to connect with a mentor ahead of time to express interest, discuss qualifications, and receive a letter of recommendation. Applicants already eligible to work at one of the five PMS DSC sites, including Boston Children’s Hospital, National Institute of Mental Health, Rush University Medical Center, Stanford University, and Seaver Autism Center at Icahn School of Medicine at Mount Sinai, should contact a mentor at that site. Applicants from outside of these institutions are still eligible to apply and are required to receive a letter of recommendation from a DSC mentor at any site who the applicant feels is a good match for their proposed work. A full list of DSC sites and mentors are provided in Appendix 1of this document (section D). If the applicant is having trouble connecting with a mentor, please contact DSC leadership at tnc@childrens.harvard.edu for help.

A complete application should be compiled as one PDF and emailed to the Phelan-McDermid Syndrome Foundation’s Scientific Director: kate@pmsf.org. Applications require the following components:

• Applicant CV
• CV of any additional co-investigators mentioned in the research strategy or budget as providing expertise (if applicable)
• Lay abstract of the proposed project
• Cover Letter
• Career Plan
• Research Plan
• Budget
• Budget Justification

Detailed instructions on each of these components, including page limits, can be found in Appendix 2.

Applicants should also ensure that two letters of recommendation are sent separately to kate@pmsf.org, one from a current or previous mentor of the applicant, and one from a DSC mentor. These letters, and all other documents, should be received before the application deadline on January 14th, 2022. Once all required documents are received, a confirmation email will be sent to the applicant.

Applications will be evaluated by a review committee led by PMS research leadership and the DSC leadership. Priority will be given to applications that leverage the resources being developed within the DSC, especially those proposals that bridge the three diseases in the Consortium (Phelan-McDermid syndrome, PTEN hamartoma tumor syndrome, and tuberous sclerosis complex). All DSC resources can be found in Appendix 1.

This fellowship award is intended to provide funding for a project directly relevant to PMS. The award is intended to fund the applicant’s salary and some of the laboratory supplies or tools necessary to conduct the proposed research. The award is not intended to fund technical support for the project or to purchase equipment in the mentor’s laboratory. The trainee applicant is considered to be the “Principal Investigator” for the purpose of postdoctoral fellowship awards.