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Multiple sclerosis (MS) is an autoimmunological disease mainly categorized by nervous tissue breakdown caused by immune cells targeting the myelin sheath, along with ranging symptoms of disability. The disease has a complex genetic basis with many environmental factors also believed to play a role in pathology. The major histocompatibility complex (MHC) has the strongest understood genetic link to disease, but many other genes and mechanisms have been identified that likely also have an effect. Environmental factors discussed include viral agents, vitamin D, ultraviolet type B radiation, and birth month, among other factors. Cognition deficits are also sometimes seen in patients. Prevalence of MS varies significantly worldwide, with a so-called latitude effect, sex differences, and other factors increasing or decreasing disease rates. Many MS cases have a relapsing and remitting component, but there are also other somewhat distinct disease states, and often a progressive aspect to disease over time. Diagnosis is often done using the McDonald criteria, but cases can present in many ways and there are other diagnostic tools occasionally used in tandem. Treatment options have expanded in recent years, with injectable, oral, and monoclonal pharmaceutical drugs available as disease modifying therapies. Other treatments, potential future innovations, and treatment goals are mentioned. Physical therapy and exercise are recommended for most MS patients and can help to slow aspects of disability progression. Dietary changes and gut microbiota likely also play a role in disease state and could be adjusted to potentially help reduce symptoms. The Covid-19 pandemic and vaccination has complicated the treatment of MS patients.

Recent advancements in genetics and technology have led to a greater understanding of the roles of different skeletal muscle proteins in a disease context. Most skeletal muscle proteins’ functions have been uncovered; however, some proteins’ precise roles in the pathophysiology of myopathies remain elusive. Many members of the Kelch family proteins have been investigated for their importance in skeletal muscle maintenance and disease contexts. Mutations in genes encoding KLHL40 result in abnormal muscle function and loss of KLHL30 in vertebrate muscle affects mitochondrial function. In particular, mutations in KLHL40 result in a severe form of nemaline myopathy. This work is focused on investigating skeletal muscle specific-Kelch proteins, KLHL30 and KLHL40, by creating and characterizing cellular disease models in hopes of validating findings from animal models. Future studies will be aimed at creating therapeutics for KLHL30 and KLHL40 deficient neuromuscular diseases. / 2025-02-03T00:00:00Z

Cleft lip and/or palate (CLP) is one of the most common birth defects and affects many individuals worldwide. There is still much unknown about the underlying causes. It is known that genetics and the environment play a role. This paper outlines various genetic mutations and inheritance patterns. It then takes a deeper look into the known genetics of CLP. More specifically, looking at the differences in prevalence of CLP based on ethnicity. The highest rate of CLP is seen in Native American populations, while the lowest rate is seen in African Americans. There are many reasons behind why this is the case, including a difference in the genes involved and environmental factors. Some genes are found to be more prevalent in certain ethnicities and certain environmental factors affect some groups more than others.

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