Division of Genetics & Genomics

Division of Genetics & Genomics

Participate

With the generous participation of families around the world, our lab studies the genes involved in brain development. Genetic changes can alter the process of brain development by affecting how cells grow, how they work and where they are located in the brain. This can lead to differences in brain structure (as seen on ultrasounds and MRIs) and/or brain function, such as epilepsy, intellectual disability and autism. By studying individuals with these disorders and identifying their genetic causes, we can learn more about the genes and proteins important to our brain and help improve strategies for diagnosis and management of these disorders in the future.

Eligibility

Conditions we study include:

Microcephaly

Lissencephaly

Heterotopia

Double Cortex Syndrome

Polymicrogyria

Schizencephaly

Focal Cortical Dysplasia

Hemimegalencephaly

Cerebellar Hypoplasia

Familial Autism & Intellectual Disability

Children and adults with brain development disorders like the ones listed here may be eligible to participate in our research. We are most interested in those without a known genetic cause. Our review of brain imaging and medical history, including past clinical neurological and genetic evaluations, helps us determine if you are a good fit for our study.

To inquire about participation, please complete the forms in this section and send them to us by email, or USPS or by fax, as follows:

EMAIL: walshresearch@childrens.harvard.edu

USPS: Walsh Lab; 300 Longwood Ave, BCH3150; Boston, MA 20115

FAX: +1-617-919-2300

Enrollment Process

1. Review of submitted forms and records

2. Eligibility determination

3. Meet to obtain informed consent

4. Collection of biological samples

Following our review of your submitted forms and records, we will determine if our study is a good fit. Then we will meet with those who are eligible to obtain your written informed consent and coordinate collection of biological samples for research. All of this can take place at Boston Children’s Hospital, your home, or local clinic in the USA or abroad. We will provide supplies needed to participate and there will be no cost to you. Forms in this section are for your reference; we will discuss them when we meet.

Expectations

The mission of our research is to identify and characterize the genes involved in brain development. Genetic studies can take a long time and sometimes we are not able to find the cause of some conditions. General results of our research are made available through scientific publications when our studies are complete. If our results lead to findings of possible medical benefit to individual research participants, we can work with them and their healthcare provider to have their individual result confirmed in a clinical laboratory and/or refer them for genetic counseling. This may involve another blood draw and service charges, if not covered by health insurance.

Our study and review of individual records and brain imaging are for research purposes only.
If you seek a clinical opinion, please visit our CLINICS page >.