Understanding Autism: A Biomedical Approach to Training and Treatment

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.

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. 

Office of Autism The NJ Department of Human Services’ (DHS) Division of Developmental Disabilities ( DDD ) has been the lead resource agency for individuals with developmental disabilities and families to seek programs and services since 1959. The Division has a broad scope – addressing individual diagnoses that fall collectively within the definition of intellectual and developmental disabilities. Categories and eligibility information can be found here. The Division's mission to protect the health and safety of the individuals it serves, promote equity and fairness among diagnoses and expend responsibly and efficiently state tax dollars continues, today. The most recent study by the U.S. Department of Health and Human Services’ Centers for Disease Control and Prevention identified the national Autism Spectrum Disorders (ASD) rate as 1 in 54 births. New Jersey's rate is reportedly 1 in 32. As such, the state has taken a number of significant steps to be responsive to issues associated with its population of individuals with ASD. An Adults with Autism Task Force (AWATF) was created by statute and charged with making recommendations to the Governor and Legislature about programs and services that would meet the needs of adults with ASD. The report was released in late 2009. Acting upon one of the Task Force’s recommendations, DHS established an Office of Autism (OOA) under the DDD umbrella in August 2010. The Office will provide a centralized place for DDD staff to focus on issues associated with ASD, identify and work with staff in sister state agencies to develop plans of service coordination for persons with ASD and promote, disseminate and organize best practices in the training of staff and other supports to people with ASD. To visit their website, please visit: https://www.nj.gov/humanservices/ddd/individuals/autism/

Duchenne Muscular Dystrophy (DMD) is a devastating genetic disorder characterized by progressive muscle degeneration and weakness. Affecting approximately 1 in every 3,500 to 5,000 male births worldwide, DMD is caused by mutations in the dystrophin gene, leading to the absence of dystrophin, a crucial protein for muscle integrity. As research advances, mesenchymal stem cells (MSCs) have emerged as a promising therapeutic option, offering hope for those affected by this relentless disease. Understanding MSCs Mesenchymal stem cells are multipotent stromal cells capable of differentiating into various cell types, including muscle, bone, and cartilage cells. MSCs can be harvested from various sources, such as bone marrow, adipose tissue, and umbilical cord blood. Their unique properties, including immunomodulatory effects, trophic support, and differentiation potential, make them ideal candidates for regenerative medicine. MSCs in the Fight Against DMD 1. Muscle Regeneration: MSCs have the ability to differentiate into muscle cells, potentially replacing damaged or missing dystrophin-expressing cells in DMD patients. This can lead to improved muscle function and slowed disease progression. 2. Anti-Inflammatory Effects: DMD is often accompanied by chronic inflammation, exacerbating muscle damage. MSCs secrete anti-inflammatory cytokines that can modulate the immune response, reducing inflammation and protecting muscle tissue from further damage. 3. Paracrine Signaling: Beyond cell replacement, MSCs secrete bioactive molecules that promote tissue repair and regeneration. These molecules can enhance the survival and function of existing muscle cells, support the formation of new blood vessels, and stimulate endogenous repair mechanisms. Clinical Trials and Promising Results Several clinical trials are underway to evaluate the safety and efficacy of MSC-based therapies for DMD. Early-phase trials have shown promising results, with patients exhibiting improved muscle strength, reduced fibrosis, and enhanced quality of life. Researchers are also exploring various delivery methods, such as systemic infusion and direct intramuscular injection, to optimize the therapeutic effects of MSCs. Challenges and Future Directions While MSC therapy holds significant promise, several challenges remain. These include ensuring consistent and scalable cell production, preventing immune rejection, and maximizing the cells' engraftment and survival in the hostile environment of dystrophic muscle. Ongoing research aims to address these hurdles, with advancements in genetic engineering, biomaterials, and combination therapies enhancing the potential of MSCs to treat DMD. Conclusion The application of mesenchymal stem cells in the treatment of Duchenne Muscular Dystrophy represents a beacon of hope for patients and families affected by this debilitating condition. With continued research and clinical development, MSCs have the potential to transform the landscape of DMD therapy, offering a new avenue for muscle regeneration and improved patient outcomes. The scientific community remains steadfast in its commitment to unlocking the full potential of MSCs, moving closer to a future where Duchenne Muscular Dystrophy is no longer a life-limiting diagnosis.