Project Description:
Randi Hagerman, M.D., performs clinical evaluation and treatment of patients with fragile X and studies the association between molecular variations in the fragile X gene and the physical, behavioral and cognitive features of children and adults affected with fragile X syndrome (FXS) or its premutation form (FXTAS). The Center staff includes specialists in molecular biology, pediatrics, molecular genetics, psychiatry, psychology, neurology, genetic counseling, neurobiology, pathology and social work.
The research team studies targeted treatments for FXS and fragile X-associated tremor/ataxia syndrome (FXTAS), including 1) a phase 3 study of the IGF-1 analogue for FXS, 2) Metadoxin for FXS, 3) ganaxolone for FXTAS, and 4) the allopregnanolone open trial IV for FXTAS. As part of the IDDRC, research into the combined use of lovastatin with an intensive parent implemented language intervention developed by Dr Abbedutos team will be conducted in children with FX. New technologies for screening fragile X mutations, both pre and full, are being developed using SMRT sequencing.
Core Function(s):
Performing Research or Evaluation
Area of Emphasis
Health-Related Activities, Quality of Life, Other - Leadership
Target Audience:
Students/Trainees (long or intermediate trainees), Community Trainees / Short term trainees, Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN, Legislators/Policy Makers, General Public
Unserved or Under-served Populations:
Racial or Ethnic Minorities, Disadvantaged Circumstances, Limited English, Geographic Areas, Specific Groups
Primary Target Audience Geographic Descriptor:
Another State, Mulit-County, State, Regional, National, International
COVID-19 Related Data:
N/A
