Breakthroughs in Stem Cell Research: How Mesenchymal Stem Cells (MSCs) Combat Duchenne Muscular Dystrophy

As research into autism spectrum disorder (ASD) continues to evolve, one intriguing area of study is the role of the microbiome—the trillions of microorganisms living in our guts. Emerging evidence suggests that the health of our microbiome may have significant implications for children with autism, particularly in relation to gut disorders and neurological development. This blog explores the connection between the microbiome and autism, emphasizing the importance of detailed stool analyses, checking for parasites, and understanding the gut-brain relationship. What is the Microbiome? The microbiome refers to the vast community of bacteria, viruses, fungi, and other microorganisms that inhabit our digestive systems. These microorganisms play a crucial role in digestion, immunity, and even brain function. In children with autism, studies have indicated that there may be an imbalance in the microbiome, often referred to as dysbiosis. This condition can lead to gastrointestinal issues that are commonly reported in children with ASD, such as constipation, diarrhea, and abdominal pain.

A groundbreaking study published in Cell on January 23, 2020, has identified 102 genes associated with autism spectrum disorder (ASD), including 30 previously unlinked to the condition. Led by Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai, the research analyzed over 35,000 DNA samples, nearly 12,000 of which were from individuals with autism. The study leveraged advanced genetic sequencing technologies and data from the Autism Sequencing Consortium, an international collaboration of scientists sharing samples and data since 2010. By comparing genetic sequences from individuals with autism to their siblings and to unaffected individuals, the researchers identified both inherited mutations and spontaneous (de novo) genetic alterations that may contribute to ASD. Notably, the research distinguished genes more closely associated with autism from those linked to other neurodevelopmental disorders, such as intellectual and motor disabilities. This differentiation enhances our understanding of autism's molecular mechanisms and could inform the development of targeted treatments. Dr. Geraldine Dawson, director of the Center for Autism and Brain Development at Duke University, hailed the study as "one of the most important, comprehensive studies on the genetics of autism to date," emphasizing its role in elucidating the complex genetic landscape of ASD. ​ This research represents a significant step forward in autism genetics, offering hope for more personalized and effective interventions in the future. January 24, 2020 2:19 PM EST Time Magazine

A new study is shedding light on the potential of CBD to ease behavioral challenges in children with autism. Researchers in Israel found that cannabidiol (CBD), a non-psychoactive compound derived from cannabis, significantly improved symptoms like anxiety, aggression, and restlessness in kids on the spectrum. The peer-reviewed study, published in the journal Translational Psychiatry, followed 82 children and teens with autism who were treated with CBD-rich cannabis oil for six months. Results showed that many experienced meaningful improvements in behavior and social communication — with minimal side effects. Parents reported reduced irritability, fewer outbursts, and better sleep among participants. One mother shared that her nonverbal son began using more words and expressing emotions for the first time. While researchers emphasized that CBD isn’t a cure for autism, they believe it could be a safe and effective option to support children with challenging symptoms — especially when traditional treatments fall short. As interest in alternative therapies grows, this study adds to the growing body of research suggesting that CBD may offer a new avenue of hope for families navigating autism. Published April 8, 2025, 9:46 a.m. ET New York Post

As autism diagnoses continue to rise in the U.S., scientists are exploring innovative treatments — and one unexpected option may be a generic cancer drug. Leucovorin, typically used to reduce the side effects of chemotherapy, is showing remarkable promise in improving symptoms of autism. Over the past 13 years, Dr. Richard Frye, a pediatric neurologist, has gathered compelling evidence that leucovorin may help children with autism — including nonverbal kids who began speaking after treatment. While there’s no single “autism pill,” Frye believes leucovorin offers real hope for some families. The drug’s potential lies in its ability to bypass a condition called cerebral folate deficiency (CFD), which is linked to low levels of folate in the brain. Many children with autism have been found to carry folate receptor autoantibodies that block the brain’s folate transport. Leucovorin, a folic acid derivative, can restore folate levels despite this blockage. Frye’s early patients often showed dramatic improvements — from reduced seizures to increased communication and social interaction.  With autism now affecting about 1 in 36 children in the U.S., the need for effective treatments has never been greater. While further research is needed, leucovorin is offering a surprising and hopeful path forward.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that affects communication, behavior, and social interaction. As parents of autistic children, you may often find yourself navigating a maze of information, therapies, and treatment options. One approach that has gained traction in recent years is the biomedical model, which posits that by modifying certain environmental factors, we can help improve symptoms and enhance the quality of life for autistic individuals. The Genetic Component of Autism Autism is believed to have a genetic basis, with studies indicating that certain genetic factors may predispose individuals to develop the condition. However, it’s crucial to understand that not all genetic components are set in stone. Some genetic expressions can be influenced by environmental factors, meaning that changes in the environment can potentially modify how these genes function. One such gene of interest is the **MTHFR gene**. To simplify, the MTHFR gene is responsible for producing an enzyme that helps process amino acids—the building blocks of proteins—and is essential for the body's ability to use folate (a type of B vitamin). This gene plays a significant role in the methylation process, which is involved in regulating many bodily functions, including DNA repair and detoxification. When the MTHFR gene is not functioning optimally—often due to mutations—this can lead to a variety of health issues, including problems with metabolism and mental health. In the context of autism, some researchers believe that supporting the body's methylation process through dietary changes and supplements can help address certain symptoms associated with the disorder. The Role of Environment in Modifying Autism The biomedical approach emphasizes the idea that while some genetic factors may be permanent, many are modifiable through environmental changes. This could include dietary adjustments, lifestyle modifications, and the use of specific supplements aimed at enhancing overall health and well-being. For instance, research has shown that certain dietary interventions, such as gluten-free or casein-free diets, can lead to improvements in behavior and communication skills in some children with autism. Furthermore, ensuring adequate intake of vitamins and minerals, particularly those involved in the methylation process, can support brain health and function. A study published in *The Journal of Autism and Developmental Disorders* found that children with autism who were supplemented with methylcobalamin (a form of vitamin B12) showed improvements in communication and social skills. This illustrates the potential impact of targeted nutritional support in managing autism symptoms. The Mind-Body Connection Another aspect of the biomedical approach is addressing the mind-body connection. Many doctors and scientists argue that by focusing on mental health and emotional well-being, we can facilitate better outcomes for autistic individuals. Stress, anxiety, and other emotional factors can exacerbate the challenges faced by children with autism. Therefore, therapies that promote mental wellness—such as cognitive-behavioral therapy, mindfulness, and relaxation techniques—can play a vital role in treatment. Furthermore, some researchers are investigating how gut health may influence autism symptoms. The gut-brain connection is increasingly recognized in modern medicine, and studies suggest that a healthy gut microbiome may positively impact behavior and cognitive function. This underscores the importance of a holistic approach that considers both physical and mental health. Conclusion While autism has genetic components that may be permanent, the biomedical approach offers hope for parents seeking to improve their child's condition through modifications in environment and lifestyle. By understanding the role of genes like MTHFR and the impact of nutrition and mental health, we can empower ourselves to make informed decisions about treatment options. As research continues to evolve, staying informed and connected with healthcare professionals who specialize in autism is essential. Remember, every child is unique, and what works for one may not work for another. Nevertheless, with the right support and interventions, the journey toward improved well-being for autistic individuals can be a positive and transformative experience. If you’re interested in exploring more about the biomedical approach to autism, consider connecting with professionals or support groups that focus on this area. Together, we can create a brighter future for our children.

From Investors.com Sarepta stock crashed Tuesday after a patient who received its approved gene therapy, Elevidys, died due to acute liver failure. Elevidys treats Duchenne muscular dystrophy, a devastating disorder that causes progressive muscle deterioration. According to Sarepta Therapeutics ( SRPT ), the patient developed acute liver failure following treatment with Elevidys. He also had a recent cytomegalovirus infection, or CMV, which could have been a contributing factor. CMV can injure the liver. This is the "event people had feared," said RBC Capital Markets analyst Brian Abrahams. But it "shouldn't spell the end for Elevidys." "The news is certainly not good, but given the known liver toxicities associated with Elevidys and all gene therapies, the fragile nature of the patients with this deadly illness being treated and the growing use of the agent, it is perhaps not altogether surprising that a fatal (adverse event) could potentially be observed occasionally," he said in a note. Still on today's stock market , Sarepta stock toppled 27.4%, closing at 73.54. 'Very Unique' Case Sarepta didn't provide any identifying characteristics about the patient other than to describe him as a "young man." William Blair analyst Sami Corwin said the patient was a 16-year-old boy. Analysts noted older and non-ambulatory patients would typically weigh more and require a larger dose of Elevidys. Further, older patients have a higher morbidity, Leerink Partners analyst Joseph Schwartz said in a report. This is the first fatality among Elevidys recipients. Sarepta says it has treated north of 800 patients weighing up to 300 pounds with Elevidys in testing and following approval. Sarepta believes this case is "very unique," Schwartz said. "Although we acknowledge that such severe side effects associated with mortality can certainly be alarming and cause the community to question the risk/benefit of treating older patients, we believe that the very low overall incidence which we estimate at less than 0.125% based on aggregate exposure to date is encouraging," he said. He reiterated his outperform rating on Sarepta stock. Well-Known Side Effect Liver toxicity is associated with AAV-based gene therapies. These drugs use non-harmful viruses known as adeno-associated viruses, or AAV, to deliver therapeutic genes to the cells. In this case, the drug tells the body how to make a shortened version of the dystrophin protein that's missing in Duchenne patients. Dystrophin helps keep muscles intact and functional. William Blair's Corwin noted two patients died following treatment with Novartis ' ( NVS ) Zolgensma, a treatment for spinal muscular atrophy. "Overall, we see this event as unlikely to affect patient/physician interest in Elevidys in the near term or Sarepta's full year 2025 product revenue guidance of $2.9 billion to $3.1 billion," she said in a report. Analysts called the sell-off "overblown," "overdone" and "overly bearish." "Thus we think this is an overreaction and presents a buying opportunity ahead of a continued strong Elevidys launch," Leerink's Schwartz said. Meanwhile, shares of Regenxbio ( RGNX ), which is working on Duchenne gene therapies, rose 11.6% to 7.81. Solid Bio ( SLDB ), another gene therapy competitor, saw shares shrink 4.9%, trading down at 5.10. 

JAR of Hope is proud to share the groundbreaking partnership between Roche and Sarepta Therapeutics, aimed at reshaping the way Duchenne muscular dystrophy (DMD) is treated.

Ashley and Adam Wells live in a small town in upstate NY, with their two children, Adam Jr, 13, and Evelyn, 8. Adam Jr. was diagnosed with Duchenne muscular dystrophy just after his sixth birthday. And needless to say, life hasn’t been the same for the Wells family since then. “It all started when Adam’s teacher mentioned to me that his calves seemed unusually large,” Ashley Wells says. “One thing led to another…actually, one test led to another. Eventually he was diagnosed with Duchenne muscular dystrophy. And, like most people, we had never heard of this disease.” (Adam Jr. isn’t alone, though; Ashley notes there are now four kids in their school district with Duchenne.) Duchenne md, of course, is a progressive muscle-wasting disease, with no cure even after more than 200 years. It occurs mostly in boys. By nine or ten, these kids start losing the ability to walk. By the mid-teens, they’re generally breathing on ventilators. And their lifespans extend generally only to the mid-twenties. In recent years, Adam Jr’s condition has made it harder for the Wells family to go out on the hiking, camping, and fishing trips they love. Automobiles, of course, aren’t made with Duchenne patients in mind. And it’s been getting progressively more difficult to get Adam Jr. into the family car, then out of the car and into the wilderness, and then back into the car again. “Adam loves school; he’s a straight-A student,” Ashley says. “But he loves Nature just as much. And it was getting harder and harder to get him out there, because our car – almost any car, really – isn’t built for transporting kids with Duchenne.” Then Lady Luck stepped in. Ashley’s sister-in-law did some research, and found out about JAR of Hope. So she contacted JOH, and after speaking with Jim Raffone, Founder/CEO, she referred Ashley to him. As the family had previously been contacted about Adam Jr. by several “schemers,” Ashley says, they wanted to check JAR of Hope out carefully. And that’s exactly what they did. “The diagnosis of Duchenne md is shattering for families,” she says. “Needless to say, when you look for help, you want to be sure you can trust who you’re dealing with. So we took a careful look at JAR of Hope. Not only were they raising funds to research a cure for this disease, but they were doing it in unique ways. And I discovered they were really good at getting the word out about this horrible disease and its effect on families.” There’s a good reason JAR of Hope is so good at getting the word out. Jim and Karen Raffone’s youngest child, 15-year-old James Anthony (”Jamesy”), also has Duchenne. So they know firsthand the pain parents of these kids feel. The average charitable foundation doesn’t have a team that climbs Mount Everest to raise funds for a cure, which JOH did two years ago. Or that participates in athletic events all over the world, some of them lasting a full week, and involving freezing nighttime temperatures in the mountains or steaming daytime temperatures in the desert. (And the average charitable foundation doesn’t have a founder like Jim Raffone, who, at a muscular 53, leads the JOH team in all these events.) Ashley Wells remembers a conversation in which she mentioned to Jim the difficulty in getting Adam Jr. into and out of the car to enjoy the outdoor pursuits he loves. “We did some research into the type of car that would be appropriate,” Jim Raffone says, “and that would also be available. And when we found such a car, we went after it.” What they found was a 2019 Dodge Grand Caravan. But not just any 2019 Dodge Grand Caravan. The car seemed perfect for the Wells family. It could go off-road and even onto beaches. It had a fishing-rod holder, and a traction chair. It also had a joystick, which allows people with motor disabilities to operate the steering wheel by remote control. And it had a lot of room. But a car like that costs a lot of money. Some of it was raised by a benefit in the town. Some of it was also raised by administrators and teachers at Adam’s school. However, by the end of these efforts, the family was still nearly $8,000 short. “That’s when we upped our involvement,” Jim Raffone says. “We raised the rest of the funds for the family. And now they have a car that Adam Jr. can get in and out of comfortably – with futuristic electronics that really help him – so he can experience all the great outdoors pursuits he loves.” Like most parents with kids with Duchenne md, Ashley Wells will never forget when she heard the diagnosis. “I’d never heard of this disease until that day,” she says. “I received a phone call at work from the doctor…and it was the hardest thing I’ve ever had to hear. But we just keep pushing forward. “And having an ally like JAR of Hope gives us real hope.” 

Kimberly Buk (formerly Kravitz) is a two-time Emmy Award-winning television journalist with a long string of notable accomplishments and awards. She’s a familiar face in the Tri-State area, in both print and electronic media.