Research Focus Areas
FRAGILE X SYNDROME
Fragile X syndrome (FXS), originally known as Martin-Bell syndrome, is a rare genetic condition that causes intellectual disability, anxiety, social avoidance, behavioral and learning challenges, and various physical characteristics. It is the leading known genetic cause of both inherited intellectual disability and autism spectrum disorder.
FXS patients are born with a mutation in a gene called FMR1, which leads to dysregulation of the endocannabinoid (EC) system and may result in the core cognitive, social, and behavioral symptoms seen in FXS. The impairment can range from learning disabilities to severe cognitive or intellectual disabilities. Patients with FXS exhibit autism-like symptoms including social anxiety and avoidance, cognitive impairment, intellectual disability, mood swings, attention deficiency, irritability, and increased risk for aggression.
An estimated 80,000 patients in the US are believed to have FXS, based on FXS prevalence estimates of approximately 1 in 4,000 to 7,000 in males and of approximately 1 in 8,000 to 11,000 in females.
IDIOPATHIC HYPERSOMNIA
Idiopathic hypersomnia (IH) is a rare and debilitating sleep disorder that can significantly disrupt daily functioning. IH is characterized by excessive daytime sleepiness (EDS) despite sufficient or even long sleep time. Other symptoms include unrefreshed sleep, difficulty in awakening, cognitive dysfunction, and autonomic symptoms.
IH is usually not alleviated by naps, longer sleep, or more efficient sleep. People living with IH experience significant EDS along with prolonged difficulty waking up from sleep and “brain fog.” While the cause of IH is unknown, many patients have a family history of similar symptoms, and IH is likely due to alterations in areas of the brain that stabilize states of sleep and wakefulness.
Approximately 80,000 people in the US are believed to be affected by IH, with 40,000 currently having been diagnosed.
MYOTONIC DYSTROPHY TYPE 1
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder that causes muscle weakness and is the most common form of adult-onset muscular dystrophy. It is an inherited disorder that is caused by a genetic mutation, and onset often occurs in an individual’s 20s and 30s. DM1 also affects multiple systems including the heart, eyes, endocrine system, and central nervous system.
Latest estimates suggest a prevalence of about 1 per 2,100 people with the genetic defect for DM1, which equates to about 150,000 people in the US. Estimates suggest there are 40,000 people currently diagnosed with DM1 in the US, with up to 90% of them reporting excessive daytime sleepiness (EDS) and fatigue and over 60% of them experiencing cognitive dysfunction.
PRADER-WILLI SYNDROME
Prader-Willi syndrome (PWS) is a rare genetic neurological disorder with many of the symptoms resulting from hypothalamic dysfunction.
The hypothalamus is an area of the brain that controls both sleep-wake state stability and signals that mediate the balance between hunger and satiety, resulting in the main symptoms in patients with PWS: hyperphagia (an intense persistent sensation of hunger accompanied by food preoccupations, an extreme drive to consume food, food-related behavior problems, and a lack of normal satiety); excessive daytime sleepiness (EDS); and behavioral symptoms. Other features include low muscle tone, short stature, and cognitive impairment.
Approximately 15,000 to 20,000 people in the US are living with PWS, the majority experiencing behavioral symptoms and more than half with EDS. There is currently no FDA-approved treatment for EDS in this patient population.
22q11.2 DELETION SYNDROME
22q11.2 deletion syndrome (22q) is a disorder caused by a small missing piece of the 22nd chromosome. The deletion occurs near the middle of the chromosome at a location designated q11.2. It is considered a midline condition, with physical symptoms including characteristic palate abnormalities, heart defects, immune dysfunction, and esophageal/GI issues, as well as debilitating neuropsychiatric and behavioral symptoms, including anxiety, irritability, social withdrawal, ADHD, cognitive impairment, and autism spectrum disorder.
It is estimated that 22q occurs in 1 in 4,000 live births, suggesting that there are approximately 80,000 people living with 22q in the US, and there are currently no FDA-approved treatments for this disorder.