The emerging field of genomic medicine offers an opportunity for biology and anatomy teachers to bring the topics of DNA, genetics, molecular processes, and evolution together into one experience. Through the genomic medicine paradigm, students see the unbroken connection between small biological topics such as mutations and their potential…

Gene therapy has fascinated clinicians, scientists, and patients since decades ago because of its potential to treat a disease at the genetic level. This can be achieved in many ways, including replacing a disease-causing gene with a healthy copy. Gene therapy must overcome complex tissue and cellular barriers to introduce genetic modifications…

In a typical undergraduate biochemistry course, two main educational objectives include (1) understanding and applying how genetic mutations can influence protein structure and function, and (2) examining metabolic pathways of biomolecules to study cellular storage and fuel. Many times, these topics can seem disparate to students; therefore, we…

Children with mucopolysaccharidosis IIIA (MPS-IIIA) may receive a diagnosis of autism spectrum disorder (ASD) due to MPS-IIIA's initial symptom similarities with ASD. This may lead to professionals receiving referrals to work with these children but unaware of how these children may respond differently to treatment. To appropriately work with…

Turner syndrome (TS) is a chromosomal disorder, caused by either complete or partial X monosomy (i.e., absence of one member of a pair of chromosomes) in some or all cells. It affects approximately 1 in 2,500 female live births. However, only about 1% of fetuses with 45, X karyotype (image of one's chromosomes) are carried to term, and up to 10%…

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…

The purpose of the manuscript is to present to academic teachers, doctors and nutritionists how practical online classes with dietetics students can be used to develop ready-made tools at work and for the education of phenylketonuria (PKU) patients and their caregivers/parents. During online classes in 2020, as part of the subject--diet therapy of…

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental…

Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan-McDermid Syndrome Foundation, 2019, How rare is Phelan-McDermid?). PMS has many distinguishing characteristics and many medical specialties have been recommended to treat the clinical features. While…

The racialized history of sickle cell disease (SCD) continues to contribute to racial disparities in healthcare and education. In the context of the racialized history of SCD, we begin by outlining subtypes of SCD and explaining that SCD is associated with chronic pain, silent cerebral infarct, overt stroke, and poor overall well-being--all of…

Translational research means different things to different people. In the biomedical research community, translational research is the process of applying knowledge from basic biology and clinical trials to techniques and tools that address critical medical needs such as new therapies. Translational research then is a "bench to bedside"…

Adults with Down syndrome are at high risk for Alzheimer's disease (AD), with most individuals developing clinical dementia by their late 60s. This increased risk for AD has been attributed, at least in part, to triplication and overexpression of the gene for amyloid precursor protein (APP) on chromosome 21, leading to elevated levels of amyloid…

Autism Spectrum Disorders (ASD) and Williams Syndrome (WS) are frequently characterized as mirror conditions in the socio-cognitive domain, with ASD entailing restrictive social interests and with WS exhibiting hypersociability. In this review paper, we examine in detail the strong points and deficits of people with ASD or WS in the…

Sickle cell disease is a very common disease throughout the world. We used it to contextualize probability for upper elementary school students. Using Punnett squares, activities guide students' evaluation of inheritance using theoretical probability. Then, students perform trials using tools to compare theoretical and experimental probabilities.

Angelman syndrome (AS) is a rare neurogenetic disorder that is characterized by myriad genetic, physical, and behavioral abnormalities (Buiting et al., 2016; Thibert et al., 2013; Wheeler et al., 2017). Due to complex developmental delays and intellectual disability associated with AS, including gross/fine motor delays, lack of speech, and…