MDF Magazine Issue 72 December 2023

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Researchers awarded grant to study potential therapeutic avenues for facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy is a rare genetic disorder that causes progressive muscle weakness and atrophy, predominantly in the face, shoulders, and upper arms, in an estimated 1 in 8,000 individuals. By Cameron Warren, Virginia Tech, 22 September <strong>2023</strong> tors on the project. His research will center on assessing skeletal muscle torque as a functional outcome measure in a specialized mouse model of facioscapulohumeral muscular dystrophy. By focusing on this mouse model, Grange aims to unravel critical insights into the underlying mechanisms of the disorder and develop innovative strategies for intervention and treatment. Mice with facioscapulohumeral muscular dystrophy show normal muscle fibers after treatment with a targeted gene therapy. Image courtesy of Nationwide Children’s Hospital. Researchers in the Department of Human Nutrition, Foods, and Exercise in the Virginia Tech College of Agriculture and Life Sciences were awarded a nearly $130,000 grant from the venture philanthropy organization SOLVE FSHD to research potential therapeutic avenues for facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic neuromuscular disorder that progressively weakens and atrophies muscles. It takes its name from the areas of the body it typically affects: the facial muscles (facio-), shoulder blades (scapulo-), and upper arms (humeral). Although it affects a relatively small number of individuals, with an estimated prevalence of 1 in 8,000, it can profoundly impact those who have it and their families. Professor Robert Grange, assistant department head of human nutrition, foods, and exercise and director of the Metabolism Core at Virginia Tech, is one of the investiga- Mice with facioscapulohumeral muscular dystrophy (at left) show signs of muscle damage, including centrally located nuclei (indicated by the arrow heads), different sized myofibers (indicated by the brackets), and infiltrating immune cells (indicated by the box). In contrast, treated facioscapulohumeral muscular dystrophy mice (at right) show only normal fibers (indicated by arrows) and features of healthy muscle. Photo courtesy of Nationwide Children’s Hospital. Grange will partner with Scott Harper, a distinguished researcher from Nationwide Children's Hospital who developed the facioscapulohumeral muscular dystrophy mouse model used in the funded study. Their combined expertise in muscle biology and genetic disorders ensures a comprehensive approach to tackling the challenges posed by the disorder. This research project was selected as one of four initiatives to receive funding from Solve FSHD’s recent Collaborative Grant award. Solve FSHD, a leading organization dedicated to accelerating FSHD research, awarded a total of $1.4 million toward projects embracing collaboration between institutions to catalyze and enhance novel potential therapeutics for FSHD. Article available at https://news.vt.edu/articles/<strong>2023</strong>/09/ cals-hnfe-facioscapulohumeral-muscular-dystrophy.html
By Editorial Team, Spinal Muscular Atrophy.net 13 June 2021 (updated: April 2022) People with spinal muscular atrophy (SMA) face many challenges throughout life. Physical symptoms can lead to emotional and social challenges for children. Dependence on others and isolation can worsen mental health. SMA can also make it hard for adults to work and date. Plus, healthcare costs for people with SMA are often high. Coping with SMA-related challenges is not easy. Taking care of your mental health and building a support network can help you cope and live your life to the fullest. Children with spinal muscular atrophy Children with SMA have normal mental and emotional development. They are fulfilled by the same activities as other children. Engaging in age-appropriate activities can increase independence and confidence. Assistive equipment and changes to the home and school environments can help with this. However, children with SMA face physical and social challenges. Physical limitations may make it hard to participate in activities. Depending on other people can cause them to feel like they have a lack of control. This can worsen quality of life. 1,2 Children with SMA carry a large emotional burden. Sadness, anxiety, and loneliness are common. Some ways to improve mental health include: 1,2 • Finding ways for them to exercise • Ensuring they have proper nutrition • Talking to a social worker, counselor, or therapist • Finding healthy hobbies outside of school • Maintaining optimism • Arranging social activities or support groups Adults with spinal muscular atrophy Adults with SMA have the same desires for careers, relationships, and independence. Physical limitations and social stigma can make these harder. Gradual loss of muscle strength can decrease independence and engagement in activities. This can reduce quality of life and worsen mental health. 2,3 Adults with SMA report that working can help improve social life, attitudes, and economic independence. Finding a job can be hard. However, certain laws protect workers and require employers to make reasonable accommodations. 2,3 Coping and grief Diagnosis of SMA often happens during infancy. As a parent, receiving the news that your child has SMA can cause a range of emotions. Grief, fear, and distress are all normal. These emotions are also common when diagnosis happens later in childhood or adulthood. Ways to cope with a new diagnosis of SMA include: 4 • Learn as much as you can about SMA and its treatments • Try to manage the aspects of your life that you can • Build a strong support network of people you can talk to • Ask for help from family and friends • Find hobbies and interests • Talk to a therapist or counselor People with SMA also cope with the condition as it progresses. Any chronic condition can increase the risk of having periods of poor mental health. As symptoms change over time, so will its impact on your mental health. Ways SMA can impact mental health include: 1,2,5 • Lack of control over symptoms • Anxiety about the future (anticipatory grief) • Low self-esteem • Lack of independence • Social isolation Children with type 1 SMA have a life expectancy of under 2 years. Grief following the death of a child or loved one can be intense. Plan end-of-life care options ahead of time. Let yourself and your loved ones grieve however you need to. Ask for support from friends and family when you need it. 6 Mental health and support groups Poor mental health increases the risk of having other health problems. Talk to a therapist or counselor about ways to stay mentally healthy. They can help find ways to cope with future challenges. Some ways to keep yourself healthy include: 2,5 • Maintaining optimism • Developing a positive sense-of-self and body image • Joining support groups • Building a strong support network • Practicing mindfulness • Eating well and exercising Finding ways to be independent […] Costs of living with spinal muscular atrophy People with SMA face high healthcare costs from hospital visits, medical equipment, and prescription drugs. Yearly costs vary widely for each person. This depends on disease severity, treatments, and other personal factors. Better treatments and screening will reduce healthcare costs. 8 […] References López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141. doi:10.1186/s13023-017-0695-0.
Page 1 and 2: Summer Issue 72 December 2023 MAGAZ
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Page 5 and 6: Why bother getting a FREE genetic t
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MDF Magazine Issue 72 December 2023

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