Members: Schaff Lab

Christian Schaaf, M.D., Ph.D., Principal Investigator

What I study in lab: Together with the entire team, I study the genetics of intellectual disability and autism spectrum disorder, in particular, the disorders caused by mutations in the MAGEL2, NR2F1, and USP7 genes, and copy number variations of chromosome 15q13.3. One of the most exciting aspects of our work for me is that we translate clinical discoveries into basic science research projects (bedside to bench) and then again molecular discoveries into novel treatment approaches that improve the quality of life of patients (bench to bedside).
What I do when not in lab: I love spending time with my wife and kids – building forts, making up silly stories, and creating amazing LEGO objects.

Maddie Gillentine, Graduate Student

What I study in lab: I study the role of CHRNA7 and CHRFAM7A in neuropsychiatric disease, with a particular interest in autism. I use induced pluripotent stem cells and neural progenitor cells from patients with 15q13.3 microdeletions and microduplications. 
What I do when not in lab: Outside of the lab, I enjoy baking, travel, going out into nature, and going to and organizing events for families affected by autism.

Chun-An Chen, Graduate Student

What I study in lab: I study Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) and mutations in NR2F1
What I do when not in lab: I enjoy softball, traveling, and hiking.

Jessica Tao, Lab Coordinator

What I study in lab: I help order and maintain lab equipment, assist in mouse behavior studies, and perform laboratory and mouse surgical procedures.
What I do when not in lab: I love photography, swimming, travel, hanging out with my kids, singing choir in church, and having afternoon tea with friends.

Jiani Yin, Graduate Student

What I study in lab: The molecular mechanism of 15q13.3 microdeletion syndrome.
What I do when not in lab: I play lots of badminton, I enjoy trying new restaurants, and I love playing board games with friends.

Ricky Lozoya, Research Project Intern

What I study in lab: I am studying the effects of CHRNA7 and CHRFAM7A duplications on ER stress and calcium signaling in neurons, and how that may translate into various neuropsychiatric disorders.
What I do when not in lab: Outside of lab, I enjoy biking, running, and especially dancing!

Emeline Crutcher, Graduate Student

What I study in lab: I am studying the MAGEL2 gene and its role in the brain.  I differentiate neurons from control and patient-derived human induced pluripotent stem cells (iPSCs), using skin fibroblasts from punch biopsies. Then I study the differences between the lines of cells with functional and non-functional MAGEL2.
What I do when not in lab: I like to garden, cook, and go for long runs.

Megan Rech, Research Coordinator

What I study in lab: I help schedule, organize, and conduct clinical research studies for the genetic mutations we study in our lab, particularly 15q13.3 deletions and duplications.
What I do when not in lab: Outside of lab I like to bake, play piano, and read.

Former Schaaf Lab Members

John McCarthy, Research Coordinator

What I study in lab: I help schedule, organize, and conduct clinical research studies for the genetic mutations we study in our lab, particularly MAGEL2, USP7, and NR2F1.
What I do when not in lab: Outside of work I like to play basketball, coach little league football, practice yoga, run, grill large quantities of meat, and watch Jeopardy.

Pooja Kumar, Research Project Intern

What I study in lab: I differentiate neurons from control and patient-derived human induced pluripotent stem cells (iPSCs) to investigate phenotypic differences between the knockout and control lines of MAGEL2. These phenotypic differences will be utilized to guide further studies into the molecular basis of disease caused by MAGEL2.
What I do when not in lab: During my free time, I enjoy singing, playing the piano, and running. I've made it a personal goal to run a half marathon at some point in my life.