Meeting Dates: Saturday, October 5–Wednesday, October 9

Location: McCormick Place Convention Center in Chicago

Each year, scientists from around the world congregate to discover new ideas, share their research, and experience the best the field has to offer. Attend so you can: present research, network with scientists, attend session and events, and browse the exhibit hall.

Join the nearly half a million neuroscientists from around the world who have propelled their careers by presenting an abstract at an SfN annual meeting — the premier global neuroscience event.  

10:00 Segal Lab presentations

11:00 Fink Lab presentations

12:00 Xi and Christina do an oral presentation of their posters

12:30 Lunch

1:00 Silverman Lab presentations

2:00 Ben-Shalom Lab presentations

The IBNS 33rd Annual Meeting was held at the Westin Playa Bonita Panama City, Panama, June 11-16, 2024. 

Human Genomics Symposium: The 10th annual UC Davis Health Human Genomics Symposium will take place Friday, Nov. 17 from 9 a.m. – 4 p.m. at the UC Davis Health Education Building. Kate Rauen is one of the symposium chairs. The theme is “Bridging Human and Animal Genomics.” Abstract topics include: Interesting Case Reports, Disease Models and Mechanisms and Genetics and Genomics. Email submissions to lclayiktez@ucdavis.edu. Please prepare abstracts using the template found here . Abstracts are due by Sept. 25. Register for the conference here.

he IBNS 32nd Annual Meeting will be held at the Sheraton Fallsview Hotel located in Niagara Falls, Canada, June 25-30, 2023.  The hotel has breathtaking views of all three waterfalls, Canadian Horseshoe Falls, American Falls and Bridal Veil Falls. Getting soaked on Voyage to the Falls Boat Tours, Ziplining to the Falls, riding the Sky Wheel at Clifton Hill, sipping ice wine on a Niagara wine tour, strolling through the Botanical Gardens or trying your luck in a casino, there is something for everyone in this energetic city!  #IBNSConnect  #IBNS2023

Dr. Silverman and her team will be presenting a webinar about “Advancing Rare Genetic Neurodevelopmental Disorders: From Dish to Discovery”.

This is the annual seminar series of the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai (NY). The series features geneticists, neuroscientists, epidemiologists, and stem cell biologists focusing on autism spectrum disorder. On January 26, Dr. Jill Silverman will discuss “Translational Biomarkers in Preclinical Models of Neurodevelopmental Disorders.”

This inaugural conference is an early discussion of the development of safe and effective treatments for children suffering from genetic diseases. New advances in this field are actively studied by the expert speakers for this conference, who are all working on cutting-edge research that has the goal of providing future treatments.

The conference is strongly focused on evidence-based science. In bringing these novel cell and gene therapy trials from bench to bedside and into clinical practice, many scientists, physicians, healthcare, regulatory, manufacturing and other staff members must work together in large teams. Our goal is to enhance collaborative research in the fields of Cell and Gene Therapy for Neurodevelopmental Disabilities. Virtual, hosted by UC Davis.

https://health.ucdavis.edu/mindinstitute/cellgenetherapy/index.html

Congrats to Anna and Liz who were awarded Trainee Speaker Awards courtesy of the National Institute of Neurological Disorders and Stroke (NINDS)!

Translation in fast forward: Patient driven research on deletions and duplications of chromosome 15q11.2-q13

5:30 PM - 6:00 PM

Wed Jun 26, 2019

Authors: Silverman, Jill L.; Berg Elizabeth L.; Copping, Nycole A.; Petkova Stela P.; Adhikari Anna; Wohr Markus; Ellegood, Jacob

Translation in Fast Forward: Patient Driven Research on Deletions and Duplications of Chromosome 15q11.2-q13 Mutations in chromosomal region 15q11.2-q13 result in at least three neurodevelopmental disorders including Angelman, Prader -Willi and Dup15q Syndromes. Angelman Syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired receptive and expressive communication skills, ataxia, motor and balance deficits, poor attention, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is loss of expression of UBE3A (ubiquitin-protein ligase E6-AP) in the brain, typically due to a deletion of the maternal 15q11-q13 region. Duplications or triplications of chromosome 15q11.2-q13 (Dup15q) are one of the most common and penetrant genomic rearrangements observed in autism spectrum disorders (ASD), accounting for up to ~3% of cases. Characteristic features of Dup15q are hypotonia, failure to thrive, moderate to severe ID, seizures, impaired motor coordination, and ASD. Given the causal role of Ube3a in AS, we postulated that Ube3a overexpression is the major contributor factor in the Dup15q phenotype. New advances in mouse and rat models have allowed for the development and utilization of clinically-relevant behavioral assays to measure sophisticated outcomes of social communication, fine grained motor skills, and learning and memory, beyond rudimentary maze based paradigms. We examined clinically-relevant behavior, neuroanatomy by MRI, and neurophysiology by electroencephalographic (EEG) for spiking events in our Ube3a deletion rats and an Ube3a overexpression mouse model system. We discovered delayed reflex development, altered social communication, gait abnormalities, and impaired learning and memory in the Ube3a deletion rat model of AS. We also discovered EEG characteristics that are translationally relevant and have been observed in AS and Dup15q clinics, such as abnormal delta and beta power bands. Our use of translational innovative outcome measures, like EEG, touchscreen tasks and motor skills, are required to demonstrate the test utility of innovative drug designs (i.e. gene therapy, viral vector delivery and/or stem cells), as well as to validate other traditional medicinal therapies (i.e., diet, CBDs or pharmaceutics) that may be in the drug discovery pipeline by biotechnological and pharmaceutical companies. Funded by NINDS (R01NS097808) and FAST.

Link to INSAR website for more information

Translation in Fast Forward: Cross Species Research on Deletions and Duplications of Chromosome 15q11.2-q13

Panel Presentation

Friday, May 3, 2019: 3:55 PM

Room: 517C (Palais des congres de Montreal)

J. L. Silverman, MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA

Background:

Mutations in chromosomal region 15q11.2-q13 result in at least three neurodevelopmental disorders including Angelman, Prader-Willi and Dup15q Syndromes, all associated with autism spectrum disorders (ASD). Angelman Syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired receptive and expressive communication skills, ataxia, motor and balance deficits, poor attention, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is loss of expression of UBE3A (ubiquitin-protein ligase E6-AP) in the brain, typically due to a deletion of the maternal 15q11-q13 region. Duplications or triplications of chromosome 15q11.2-q13 (Dup15q) are one of the most common and penetrant genomic rearrangements observed in ASD, accounting for up to ~3% of cases. New advances in mouse and rat models have allowed for the development and utilization of clinically-relevant behavioral assays to measure sophisticated outcomes of social communication, fine grained motor skills, and learning and memory with neurophysiological outcomes such as spiking events, spectral power and sleep.

Objectives:

To examine clinically-relevant behavior, neuroanatomy by MRI, and neurophysiology by electroencephalographic (EEG) in our Ube3a deletion rats and an Ube3a overexpression mouse model system.

Link to INSAR website with more information

ARID1B Haploinsufficiency Reveals Early Divergent Neuroanatomical Phenotypes through Development and Sex

Poster Presentation

Friday, May 3, 2019: 11:30 AM-1:30 PM

Room: 710 (Palais des congres de Montreal)

A. Kinman1, L. R. Qiu2, D. Fernandes1, Z. Lindenmaier1, S. Petkova 3, J. Ellegood2, J. L. Silverman 4and J. P. Lerch2, (1)Mouse Imaging Centre, Neuroscience and Mental Health, Hospital for Sick Children, Toronto, ON, Canada, (2)Mouse Imaging Centre, Hospital for Sick Children, Toronto, ON, Canada, (3)MIND Institute and Department of Psychiatry and Behavioral Sciences, Sacramento, CA, (4)MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA

Background: 

Haploinsufficiency of ARID1B, the chromatin remodelling AT-Rich Interactive Gene 1B, has been implicated in autism spectrum disorder (ASD), intellectual disability and Coffin-Siris syndrome (O’Roak et al., 2012; Fitzgerald et al. 2015; Celen et al., 2017). Although ARID1B haploinsufficiency is implicated in multiple neuropsychiatric disorders, little is known about its effect on neuroanatomical development.

Objectives: 

This study explores the structural neuroimaging phenotypes associated with the ARID1B mutation using in vivo magnetic resonance imaging (MRI) in mice. Our aim is to elucidate any developmental and sex differences in neuroanatomical phenotypes associated with haploinsufficiency of ARID1B.

Link to INSAR website for more information

Translational Assessments in Two Genetic Preclinical Models of Disrupted Chromatin Processes: Development and Motor Outcomes

Poster Presentation

Friday, May 3, 2019: 11:30 AM-1:30 PM

Room: 710 (Palais des congres de Montreal)

S. Petkova1, C. P. Canales2, A. S. Nord3, J. Ellegood4, J. P. Lerch4 and J. L. Silverman5, (1)MIND Institute and Department of Psychiatry and Behavioral Sciences, Sacramento, CA, (2)Center for Neuroscience | MIND Institute, Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, (3)Center for Neuroscience, Department of Neurobiology, Physiology, & Behavior, University of California, Davis, Davis, CA, (4)Mouse Imaging Centre, Hospital for Sick Children, Toronto, ON, Canada, (5)MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA

Background:

Numerous genes related to chromatin modification processes are among the top autism -associated risk genes, including AT-Interactive Domain 1B (ARID1B) and Chromodomain-Helicase DNA Binding Protein 8 (CHD8) (Cook & Scherer, 2008, O’Roak & State, 2008, O Roak 2014, Lossifov 2014, Werling 2018). These two candidate genes have related functional activities albeit act via differential pathways: ARID1B is a SWI/SNF complex protein in neuronal BAF chromatin complexes, and CHD8 encodes an ATP-dependent chromatin helicase.

Objectives:

To examine developmental outcomes such as physical growth and neurological reflexes in two preclinical models of genetically defined ASD.

To focus on motor as a key domain because: a) there is a strong correlation between motor and social communication, b) there is a strong correlation between motor skills and assessment of cognitive abilities, and c) motor is highly translatable between preclinical models and human studies.

Link to INSAR website

Neurophysiological Outcomes in a Preclinical Model of Ube3a Overexpression and Dup15q Syndrome

Poster Presentation

Thursday, May 2, 2019: 5:30 PM-7:00 PM

Room: 710 (Palais des congres de Montreal)

N. A. Copping1 and J. L. Silverman2, (1)UC Davis, Sacramento, CA, (2)MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA

Background:

Copy number variants (CNV) are among the most common genetic causes of autism spectrum disorders (ASD), with 10-20% of cases resulting from one or more CNVs. Maternally derived duplications or triplications of 15q11.2-q13 (Dup15q syndrome) are the most penetrant CNV observed in ASD, accounting for up to ~3% of ASD cases (Glessner et al., 2009; Pinto et al., 2010). Dup15q syndrome, as a genetically defined subtype of ASD, also shares the core transcriptomic signature observed in idiopathic ASD (Ohta et al., 2015). Characteristic features of Dup15q syndrome are moderate to severe intellectual disability, seizures, hypotonia, speech impairments, anxiety, impaired motor coordination, and ASD (Cook et al., 1997; Bolton et al., 2001; Hogart et al., 2010; Urraca et al., 2013; Conant et al., 2014; Finucane BM et al., 2016). We and others postulate that overexpression of the E3 ubiquitin ligase gene (UBE3A), a critical gene in this region, contributes to the Dup15q syndrome phenotype.

Objectives:

To examine neurophysiology by electroencephalographic (EEG) for spiking events in our Ube3aoverexpression model system.

To investigate EEG characteristics such as epileptiform activity, total spectral power, and spectral power by band width frequency that are translationally relevant and observed in the Dup15q clinical population (e.g., high beta power measured in children with Dup15q).