Brain Development Research Program

Happy National DCC Awareness Day! (7/2/2022)

We would like to thank the National Organization for Disorders of the Corpus Callosum for hosting the 20th NODCC Conference this year in Frisco, TX! You may find more resources and support for families in their website: https://www.nodcc.org

Our lab is still actively enrolling more ACC study participants to complete whole exome sequencing. We anticipate the next round to be processed in Dec 2022. If you are interested in the study, you may complete our intake form to see if you are eligible for the study: https://redcap.ucsf.edu/surveys/?s=e5zvYW.

More information about this study can be found on our website: https://brain.ucsf.edu/disorders-cerebral-development.

Disorders of Cerebral Development | Brain Development Research Program This study investigates the clinical and genetic causes of a wide range of cortical malformations and neurodevelopmental disorders. These include: Agenesis/Dysgenesis of the Corpus Callosum (A/DCC), Aicardi Syndrome, Polymicrogyria (PMG), Periventricular Nodular Heterotopias (PVNH), Subcortical Hete...

Happy Friday!

Here is our current lab newsletter. If you would like a PDF copy, please contact our research coordinator Alison at [email protected].

Our lab is still actively enrolling new ACC study participants for our 2021 whole exome sequencing in June. If you are interested in the study, you may complete our intake form to see if you are eligible for the study: https://redcap.ucsf.edu/surveys/?s=e5zvYW.

More information about this study can be found on our website: https://brain.ucsf.edu/disorders-cerebral-development.

Hi everyone!

Our lab's collaborator, Dr. Lynn Paul at the California Institute of Technology, is actively enrolling families in a research study for infants (less than 15 months old) who have agenesis/dysgenesis of the corpus callosum.

If you or your family are interested in participating, you may find more information on their website https://accinfantstudy.com or email their research team at [email protected]. Thank you!

Hi everyone! We are in the process of enrolling new study participants.

For the new year, our lab is focused on several goals:

A) Determining the genetic causes behind agenesis of the corpus callosum (ACC) and other brain malformations
B) Understanding the issues people with brain malformations are likely to face, and
C) Developing new therapies

As a part of the study, you will receive annual updates about our progress and we will complete gene sequencing to share with your geneticist. Since this is just for research, we would not share your genetic testing results directly with you. However, we would notify you once your genetic testing is completed and discuss our analysis with your geneticist/primary physician so they can provide you with the right diagnosis and treatment.

Right now, we anticipate completing our next cohort’s sequencing in Fall 2020. We would need signed consent forms, a copy of a brain MRI, a completed enrollment packet, and genetic saliva samples from you/your child and the parent(s).

If you are interested in our study, you can complete the first steps by completing our intake form to see if you are eligible for our study: https://redcap.ucsf.edu/surveys/?s=e5zvYW.

You may also find more information by emailing our research coordinator Kendall Parks at [email protected] or reviewing our website: http://brain.ucsf.edu/disorders-cerebral-development.

Thank you all!

Initial Interest Intake Form

Hi everyone,

We want to alert you to an important opportunity. Our lab is aiming to identify genetic causes of DCC. To do this, we will be conducting whole exome sequencing on DNA from families (child with DCC, both parents). If clinically significant results are uncovered, we will work with you to get these results confirmed in a clinical laboratory. This is a unique opportunity both to help other families and to learn about yours/your child’s condition.

In order to do this, we will be taking samples of saliva from which we can extract DNA. This can be done easily at home and the saliva kits will be sent with a prepaid return Fedex package. If you are interested, just follow this link to complete some basic information and our team will be in touch with you right away:

https://redcap.ucsf.edu/surveys/?s=yeqCb6JnqD

We appreciate your help and contributions to our research study!

Thank you,
Brain Development Research Program

ACC Whole Exome Sequencing Project - Saliva Sample Donation Please complete this survey to express interest in donating saliva samples for a unique opportunity to contribute to genetic research for Agenesis of the Corpus Callosum. Completion of this online form does not commit you to providing saliva samples. You have the option to opt out at any point in ti...

Spectrum News has published an article about our Principal Investigator, Dr. Elliott Sherr, and his latest findings on the corpus callosum and 16p11.2 (a genetic region linked to autism). Read all about it here:

Distinct changes mark brains of people with mutations tied to autism Deletion of 16p11.2, a chromosomal region linked to autism, leads to the enlargement of certain brain structures, whereas duplication of the same region leads to structures that are unusually small.

Thank you for your current and past participation in our research study regarding the genetics of brain development. We at the Brain Development Research Program really appreciate it!

At this time, we have acquired funding to do Whole Exome Sequencing for families enrolled in our research study. This will allow us to make significant progress better understanding the genetics and outcomes of neurodevelopmental disorders. To do this, we are trying to obtain DNA samples from family trios: mom, dad, and affected child. Trios are better for genetic sequencing and will allow us to more easily find a definitive result. Although we are unable to directly provide you with results from the sequencing, if we do find something clinically actionable we would refer you to get tested in a clinical lab. They will then be able to report the findings back to you.

If you would like to participate in the WES study, please contact the Research Coordinator, Brieana, at [email protected]. If you have participated in our study in the past, she will let you know if there is anything that is required from your family to complete your enrollment. If you have not enrolled in our study before, she can provide you with more information about the study and how to be involved.

We thank you again for both the time and commitment you and your family have dedicated to this project. Your participation is an invaluable contribution to the research and medical communities as well as other families like yours.

We are currently recruiting participants for our studies on disorders of cerebral development! If you or someone you know has been diagnosed with a neurodevelopmental disorder related to malformation of the cerebral cortex (Agenesis/Dysgenesis of the Corpus Callosum, Polymicrogyria, Periventricular Nodular Heterotopias, Subcortical Heterotopias, Dandy-Walker Malformation, etc.) please reach out to our study coordinator, [email protected] , or fill out our Initial-Interest intake form https://redcap.ucsf.edu/surveys/?s=e5zvYW.

For more information on this study, please visit our website http://brain.ucsf.edu/disorders-cerebral-development

Initial Interest Intake Form

We're always looking for more participants for our Autism Spectrum Disorder (ASD) studies! If you know of any families who would like to join our study as participants or controls, please contact [email protected] or follow the intake links in the flyers below.

Big thank you to Spectrum News to publishing the first hint of our Autism Spectrum Disorder (ASD) Biomarker Discovery paper that is currently in the works! Read all about it here: https://spectrumnews.org/news/autism-signature-found-trio-blood-borne-proteins/

Want to participate? We would love to have you help expand our ASD research. Read more here: http://brain.ucsf.edu/how-participate

How to Participate | Brain Development Research Program

***NODCC Conference - July 22nd - 24th in Chicago***

The BDRP is currently scheduling blood draws with families as well as individual meetings with Dr. Sherr. There are still openings available so if you would like to participate in research please contact Brieana Fregeau at [email protected].

We look forward to seeing those of you who will be attending the conference!

Thank you!