Volunteer/Research Position Available Albert Einstein College of Medicine and Montefiore Medical Center

Title of Study: Identifying Genetic Abnormalities Underlying Structural Problems with Connective Tissue

 

Sponsoring Department: The Genetic Department at the Albert Einstein College of Medicine and Montefiore Medical Center

Study Description:  We are looking for students to recruit patients and their families to our study involving connective tissue abnormalities. Connective tissue disorders are seen in multiple genetic syndromes including Osteogenesis Imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome. However, there are multiple children who have joint laxity or are hypermobile.  There have been multiple reports which suggest that structural connective tissue abnormalities are seen in a wide range of disorders (simple joint laxity to overt disease).

                Our study aims to look at children with overt disease and simple joint laxity when compared to a control population. We will be doing targeted exome sequencing looking at specific genes known to cause joint laxity (for example collagen).

Volunteer Responsibilities: We are looking for volunteers to speak to families seen within the Montefiore Medical Center (either at the Children’s Hospital at Montefiore  or at the Pediatric Outpatient Department of the Comprehensive Family Care Center) to recruit patients to our study. Volunteer responsibilities would include talking to the patient and their family, gathering information (ethnic background), and administering a questionnaire (5 questions) to see if the child or family member is hypermobile. This is a non-paying position.

Location:  Children’s Hospital at Montefiore (CHAM) outpatient subspecialty clinics

              : Comprehensive Family Care Center (CFCC) in the Pediatric out-patient clinic

Intended start date: ASAP

Duration: Applicant can choose a minimum of 2 shifts a week. The applicant should be able to make this commitment for at least 6 months (it may be possible to change shifts if your schedule changes. Morning shifts are from 8:30am to 12pm. Afternoon shifts are from 12:30pm to 5pm. Clinics run from Monday through Friday.

If you're interested in applying, contact Elaine Pereira, MD at elaine.m.pereira@gmail.com