Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
The first two years of the grant provided funding for two seminars in an academic year, but in a short span, seeing the tangible benefits these had, they expanded from two lectures a year, to two a month.
FXTAS is characterized by intention tremor, gait ataxia, executive function deficits, memory issues, and neuropathy.
Title: Association between FMR1 CGG Repeat Number Polymorphism and Phenotypic Variation in the General Population Legend: Associations between CGG repeat lengths and phenotypes. (A) Linear association with IQ. (B) Linear association with college graduate (males only). (C) Curvilinear association with age at menopause (females only). (D) Curvilinear association with the number of biological children (females only). (E) …
Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains under-diagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.
An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome.
A team of researchers at the University of Wisconsin–Madison is part of a new multi-institution effort to better understand Alzheimer’s disease in adults with Down syndrome. Adults with Down syndrome are at high risk for developing Alzheimer’s disease beginning in their late 40s, because of their unique biology. The vast majority will eventually develop the …
It was long believed the FMR1 premutation — an excessive number of trinucleotide repeats in the FMR1 gene — had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the flawed gene was the risk of having offspring with fragile X syndrome, a rare but serious form of developmental disability.
The Waisman Center, University of Wisconsin-Madison, launched a new fund to support interdisciplinary research in the area of intellectual and developmental disabilities (IDD) genomics.
Arezoo Movaghar earned her master’s degree in computer science and artificial intelligence. She built models based on the plentiful data found in medical records. So, when she came to UW–Madison as a PhD student and joined a research group, it surprised Movaghar to find out just how much data researchers in other fields collect.
The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.
