Simons Searchlight CSNK2A1, HIVEP2, MED13L and SETBP1 Family and Scientific Conference

Date & Time


Location

Hyatt Regency, Baltimore, MD
300 Light Street
Baltimore, MD 21202 United States

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Date & Time
Thursday August 4, 2022 – Sunday August 7, 2022

The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Simons Searchlight will hold the CSNK2A1, HIVEP2, MED13L and SETBP1 Family and Scientific Conference in Baltimore, M.D. from August 4–7, 2022.

Mutations in these four genes have been linked to a number of neurodevelopmental challenges including delays in the development of motor skills, speech and cognition, reduced impulse control, hypotonia, atypical facial features and congenital heart defects1-11. To date, Simons Searchlight has enrolled 79 carriers of CSNK2A1, 41 carriers of HIVEP2, 73 carriers of MED13L, and 65 carriers of SETBP1. Approximately 80 Simons Searchlight families across these four conditions to attend the conference in-person. Opportunities to conduct research studies with individuals and families attending the conference will be available. Interested researchers can apply for funding by February 1, 2022 (application details are provided below).

About the Conference

The first day of the conference (August 4) will consist of four separate scientific sessions, each on one of these genetic conditions. Interested researchers who are not able to attend in person will be able to join remotely.

From August 5-7, families will participate in research projects in the morning and talks in the afternoon.  Research projects have not been finalized and opportunities to conduct research studies with participants and families will be available throughout the event; phlebotomists will be present on-site to help collect blood samples from participants.

To support research opportunities on these rare conditions, SFARI is offering funding for up to five $10,000 awards to perform research studies at the conference, including conducting in-person assessments and testing. Researchers interested in applying for funding should submit an application through this form by February 1, 2022. The application should detail the project’s hypothesis, design and anticipated outcomes as well as space and equipment requirements and the time needed to complete the work.

Researchers interested in participating may contact the Simons Searchlight team at conference@simonssearchlight.org for additional information. A link to registration will be available in the coming weeks.

References

  1. Okur V. et al. Hum. Genet. 135, 699-705 (2016) PubMed
  2. Chiu A.T.G. et al. Clin. Genet. 93, 880-890 (2018) PubMed
  3. Owen C.I. et al. Am. J. Med. Genet. A. 176, 1108-1114 (2018) PubMed
  4. Steinfeld H. et al. Neurogenetics 17, 159-164 (2016) PubMed
  5. Asadohalli R. et al. Eur. J. Med. Genet. 21, 1100-1104 (2013) PubMed
  6. Cafiero C. et al. Eur. J. Med. Genet. 23, 1499-1504 (2015) PubMed
  7. van Haelst M.M. et al. Eur. J. Med. Genet. 23, 135-138 (2015) PubMed
  8. Asadollahi R. et al. J. Med. Genet. 60, 451-464 (2017) PubMed
  9. Filges I. et al. J. Med. Genet. 48, 117-122 (2011) PubMed
  10. Marseglia G. et al. Eur. J. Med. Genet. 55, 216-2212 (2012) PubMed
  11. Coe B.P. et al. Nat. Genet. 46, 1063-1071 (2014) PubMed
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