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Dr. Abhijeet Rajendra Joshi Joins CMT Foundation of India Advisory Board: Advancing Hope for CMT Research in India

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  Dr. Abhijeet Rajendra Joshi Joins CMT Foundation of India Advisory Board The Charcot Marie Tooth Foundation of India (CMTFOI) is delighted to welcome Dr. Abhijeet Rajendra Joshi to its Advisory Board. His association marks an important step in our mission. We aim to promote CMT research, improve patient care, and support scientific progress for people living with Charcot-Marie-Tooth (CMT) disease in India. Dr. Joshi is an Assistant Professor in the Department of Pharmacy at BITS Pilani, Hyderabad Campus. He earned his Ph.D. in Neuroscience from the University of Cologne, Germany. Following his Ph.D., he completed five years of postdoctoral research at Baylor College of Medicine in Houston, USA. His work in neuroscience has received several prestigious fellowships. These include the DAAD Doctoral Fellowship and the DST INSPIRE Faculty Fellowship. His research has also received international recognition through numerous peer-reviewed publications. To date, his work has received more than 500 citations. A Major Step Forward for CMT Research in India One of the most exciting aspects of Dr. Joshi’s work is his preclinical research on Charcot-Marie-Tooth Disease Type 2A (CMT2A). The Indian Council of Medical Research (ICMR), the Department of Science and Technology (DST), and other funding agencies support this research. His laboratory is studying novel SARM1 inhibitors. These compounds may offer a potential therapeutic approach for CMT2A. Researchers are exploring their ability to slow or prevent nerve degeneration. The research remains at the preclinical stage. It is not currently available as a treatment for patients. However, the program represents an important area of CMT2A research in India. It also reflects the growing focus on developing future treatments for inherited peripheral neuropathies. Strengthening the Bridge Between Research and Patients As an Advisory Board Member of CMTFOI, Dr. Joshi will provide scientific guidance to the Foundation. His expertise will support our research initiatives, patient registry, and educational programs. He will also contribute to collaborations with clinicians and researchers in India and around the world. These partnerships can help strengthen research and improve knowledge of CMT. His involvement will further strengthen CMTFOI’s vision. We aim to build a strong ecosystem that connects patients, clinicians, researchers, and policymakers. Through this collaboration, these groups can work together to improve CMT diagnosis and promote research. Their efforts can also help prepare India for future clinical trials and emerging therapies. Looking Ahead Dr. Abhijeet Rajendra Joshi’s addition to the CMTFOI Advisory Board strengthens our commitment to CMT research in India. Meaningful progress happens when patient advocacy and scientific research move forward together. We warmly welcome Dr. Joshi to the CMTFOI family. His expertise will help us advance CMT research and support the needs of the CMT community. We look forward to working with him to inspire hope and improve the lives of people and families affected by Charcot-Marie-Tooth disease. Together, we move closer to a future where every CMT patient has access to better diagnosis, better care, and ultimately, better treatments. — Charcot Marie Tooth Foundation of India

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Decoding the Dark Matter of Charcot Marie Tooth Disease: Why the Indian Cohort Holds the Key to a Global Cure

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Decoding the Dark Matter of CMT Disease: Why the Indian Cohort Holds the Key to a Global Research & Cure   Introduction Imagine trying to complete a massive, complex jigsaw puzzle while only having pieces from one corner of the box. For decades, global genomic medicine has faced a similar limitation. Although Charcot Marie Tooth disease affects millions of people worldwide, most of the available genetic data has been generated from Western populations. Peripheral nerves do not recognize geographical borders. To truly understand the biology of CMT, the scientific community must look toward one of the world’s richest sources of genetic diversity: the Indian CMT cohort. Rather than being merely a regional population, the Indian cohort represents a missing piece of the global puzzle. Insights generated from India have the potential to transform diagnosis, research, and treatment strategies for patients across the world. The Global Library Is Incomplete Without India When a person with CMT undergoes genetic testing, clinicians compare the results with international databases such as ClinVar. If a mutation has never been documented, it is frequently classified as a Variant of Uncertain Significance (VUS), leaving patients and families without clear answers. A landmark Indian genetic study revealed that 73% of the 62 distinct variants identified were entirely novel and had never been reported previously. Every newly characterized variant enriches global reference databases, improving diagnostic accuracy not only for Indian patients but also for individuals in New York, Paris, Tokyo, and countless other places. A Unique Genetic Archive In Western populations, duplication of the PMP22 gene accounts for nearly half of all CMT cases. India presents a different genetic landscape. Alongside CMT1A, there is a remarkable diversity of rare autosomal recessive and axonal forms, including CMT2 and CMT4. Mutations involving genes such as SH3TC2, MFN2, and GJB1 offer unique opportunities to study myelin degeneration and axonal dysfunction that are comparatively uncommon elsewhere. Exploring the Genome Beyond the Obvious Many individuals remain undiagnosed even after Whole Exome Sequencing because important disease causing variants can lie outside protein coding regions. Emerging work from Indian researchers has demonstrated the value of Whole Genome Sequencing in identifying pathogenic variants within regulatory and non coding regions, including GJB1 intronic variants and LMNA 5′ UTR variants. These findings provide an important framework for solving genetically unresolved CMT cases around the world. Strengthening the Global Search for a Cure Gene therapies, antisense oligonucleotides, and other precision treatments are rapidly advancing through research pipelines. However, therapies intended for worldwide use must be evaluated across diverse genetic backgrounds. Including the Indian CMT population in research and clinical development helps ensure that future therapies are effective, reliable, and applicable to a broader global population. A truly global cure must reflect global genetic diversity. Conclusion The search for a cure for Charcot Marie Tooth disease is a shared international mission. The Indian CMT community is not simply seeking answers for itself; it offers an extraordinary source of scientific knowledge that can accelerate discoveries benefiting patients everywhere. Investing in Indian CMT research is not only an act of inclusion but also a scientific necessity. By embracing this diversity, the global community moves one step closer to more accurate diagnoses, better therapies, and ultimately a cure. Author: Dr.Priyanshu Agrawal Co‑Founder and Director Charcot Marie Tooth Foundation of India

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The Hidden Epidemic: Why Demotivation Spreads Faster Than Motivation

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The Hidden Epidemic: Why Demotivation Spreads Faster Than Motivation Over the years of working in the leadership role at my workplace and now for a few months with patients, caregivers, and advocacy groups, I have observed something that is rarely discussed but profoundly impacts outcomes: “Motivation spreads. But demotivation spreads faster.” For individuals living with rare and chronic diseases, motivation is not merely a mindset—it is often the difference between participation and withdrawal, independence and dependency, progress and decline. A patient may start by skipping a small daily activity because it feels difficult. Then another. And another. Gradually, they begin relying more on others for things they are still capable of doing themselves. This transition is often so subtle that neither the patient nor the caregiver notices it happening. “What begins as support can unintentionally become overprotection.” On the part of parents or caregivers, while care and compassion are essential, but excessive dependence can slowly erode confidence, self-belief, and ultimately self-motivation of the patients. The challenge is not simply to help patients live with a condition, but to empower them to remain active participants in their own lives. “Independence is not the opposite of support. It is the goal of support.” The same principle applies to leadership in every sphere of life—whether in healthcare, business, research, patient advocacy, public service, education, or even within a family. Every leader carries responsibility beyond their own circumstances. People look to leaders not because they are immune to challenges, but because they continue moving forward despite them. In rare disease communities, this responsibility is often even greater. Many patient advocates and organization leaders are not merely observers—either they are patients themselves or the parents. They carry their own physical or emotional challenges  while simultaneously carrying the hopes of hundreds or thousands of others. They speak at conferences & online platforms; engage with clinicians & researchers; advocate for policy changes, build patient registries, support newly diagnosed families, and push for better care. Yet behind these efforts are individuals who face the same uncertainties as everyone else. “And when leaders struggle, something important happens.” Motivation requires effort, consistency, and deliberate action to spread. Demotivation, however, often spreads effortlessly. A moment of doubt can travel through a community much faster than months of encouragement. People are naturally drawn towards certainty and comfort. Unfortunately, negativity often feels more comfortable than resilience because it demands less effort. This is why demotivation can spread through a group, a family, an organization, or an entire community with surprising speed. That is why protecting one’s motivation is not being selfish—it is a responsibility.   What I’ve Learned ·       Self-motivation is the foundation of leadership. You cannot consistently inspire others if you have abandoned hope yourself. ·       Independence builds confidence. Patients should be encouraged to do what they can, even when progress feels tiny. ·       Support should empower, not replace. The objective of caregiving is not dependence; it is enabling capability. ·       Communities must guard against collective negativity. Challenges should be acknowledged, but hopelessness should never become the dominant narrative. ·       Leaders need support too. Those who motivate others also need spaces where they can recharge, learn, and regain perspective. In healthcare, we often focus on medicines, therapies, technologies, and research. All of these are important. But progress also depends on something less tangible: “The belief that improvement is possible.” Because motivation can help a patient to consistently do the rehabilitation, encourage a family to seek proper diagnosis, inspire people’s participation in research, strengthen an advocacy movement, improve quality of life, and sometimes even change the course of a life. Every conversation, every action, and every response contributes to the culture of a community. We can spread hope, resilience, and possibility. Or we can spread doubt, dependency, and defeat. Motivation is contagious. Demotivation is even more contagious.   “The question is not whether we influence others. The question is what we are spreading.”   These reflections resonate across patient advocacy and leadership alike. How do you guard against demotivation in your own community? #PatientAdvocacy #RareDiseases #Leadership #Motivation #Caregivers #CommunityBuilding This blog is written by Harsh Singla

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If there is a rare disease, there should be a patient registry.

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If there is a rare disease, there should be a patient registry.   When a rare disease is identified, the immediate focus is often on finding a treatment. Yet, one of the most important questions remains unanswered: Do we truly understand the disease? Before therapies, before clinical trials, and before biomarkers, comes the Data. And the most powerful way to systematically collect that data is through a patient registry. For clinicians, geneticists, and researchers, a patient registry is much more than a database. It is a scientific foundation that supports answers to critical questions, such as: How many patients & families are affected with this disease? Where are they located? What could be the origin or root-cause? What genetic variants are involved? How does the disease progress over time? Why do some patients progress faster than others? Which clinical outcomes matter most to patients and families? Patient registries make it possible to conduct natural history studies, which are essential for understanding how a disease evolves in the absence of treatment. Without this knowledge, it becomes difficult to measure whether a new therapy is truly effective. Registries also help researchers move from observation to discovery. They enable the identification of disease patterns, support biomarker development, reveal genotype-phenotype correlations, and help uncover the underlying molecular mechanisms driving disease progression. For industry and clinical trial sponsors, registries are often the first step in assessing trial readiness. They provide insights into patient numbers, geographic distribution, disease severity, and potential recruitment pathways. Many successful rare disease trials around the world were built upon years of registry data. Beyond research, registries have another important role: they bring visibility to conditions that are often misunderstood. By generating reliable evidence, they help dispel myths, reduce stigma, strengthen advocacy efforts, and support evidence-based policy making. In many ways, a patient registry serves as a roadmap: It helps identify immediate needs such as proper diagnosis and access to care. It informs intermediate goals such as biomarker development and therapeutic research. It supports the ultimate goal of disease-modifying treatments and, one day, a cure. As physicians, geneticists, researchers, patient organizations, and policymakers work together to advance rare disease research, one principle remains universally relevant: You cannot effectively study, manage, or treat what you do not systematically understand. And that understanding begins with a patient registry. If there is a rare disease, there should be a patient registry, because: No registry → limited understanding. Limited understanding → limited research. Limited research → limited therapeutic progress. This is precisely why the National CMT Patient Registry was established in India—to create a foundation for natural history studies, biomarker discovery, clinical trial readiness, and future therapeutic development for Charcot-Marie-Tooth disease. Registry: https://cmtfoi.org/patient-registry/ #RareDiseases #PatientRegistry #CharcotMarieTooth #CMTFoundationOfIndia

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Artificial Intelligence and the Future of Rare Disease Drug Discovery in CMT

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Artificial Intelligence (AI)  is rapidly transforming healthcare and biomedical innovation. This is especially true in rare diseases such as Charcot-Marie-Tooth (CMT) disease. Researchers, biotechnology companies, and scientific institutions around the world are using AI-powered tools to better understand diseases. AI is also helping accelerate drug discovery and clinical research. It may also support the development of future therapies.Rare genetic disorders like CMT present unique scientific challenges. They often involve complex genetics and variable disease progression. Large patient datasets are also limited. AI-driven technologies can help address these challenges. They enable faster analysis of biological, clinical, genetic, and movement-related data. These advances are creating new possibilities in precision medicine, disease modeling, biomarker identification, patient monitoring, and therapeutic discovery. Rare genetic disorders like CMT present unique scientific challenges. They often involve complex genetics and variable disease progression. Large patient datasets are also limited. AI-driven technologies can help address these challenges. They enable faster analysis of biological, clinical, genetic, and movement-related data. These advances are creating new possibilities in precision medicine, disease modeling, biomarker identification, patient monitoring, and therapeutic discovery.Rare genetic disorders like CMT present unique scientific challenges. They often involve complex genetics and variable disease progression. Large patient datasets are also limited. AI-driven technologies can help address these challenges. They enable faster analysis of biological, clinical, genetic, and movement-related data. These advances are creating new possibilities in precision medicine, disease modeling, biomarker identification, patient monitoring, and therapeutic discovery. DANCER  is an emerging AI-assisted movement analysis tool. It was developed by Dr. Wolfgang Pernice and the CMT Research Foundation in collaboration with Columbia University. DANCER is designed to analyze motor function and movement patterns in people affected by CMT. It uses simple 2D smartphone video recordings. The platform uses advanced computer vision and AI-based reconstruction methods. It can generate detailed 3D whole-body movement models. This helps researchers measure gait, balance, and functional changes over time. These methods may improve disease tracking and support future clinical research. AI is also influencing the future of rare disease drug discovery. VoyageR, developed by ReviR Therapeutics, is one example. The platform explores AI-enabled approaches for identifying RNA-targeted small-molecule therapies. These approaches may have applications in neurological and genetic disorders, including CMT. VoyageR combines machine learning, RNA biology, molecular modeling, and structural analysis. These computational systems can evaluate large chemical libraries quickly. They can also identify molecules with potential therapeutic relevance. Such approaches may help reduce the time and cost of early-stage drug development. AI in CMT Research In addition to movement analysis and drug discovery, AI-assisted technologies are being explored for: Identifying new therapeutic targets Exploring drug repurposing strategies Discovering biomarkers and predicting disease progression Optimizing clinical trials and patient stratification Interpreting genetic data and supporting precision medicine Analyzing large-scale patient data through registries and digital health systems Artificial intelligence does not replace laboratory science or clinical expertise. Patient participation also remains essential. However, AI has the potential to support and accelerate scientific discovery in rare neurological diseases. The global CMT research ecosystem continues to evolve. AI is becoming an important part of this progress. Its integration with computational biology, patient registries, and collaborative research may improve our understanding of CMT disease. It may also create new opportunities for future therapies and better care for people and families affected by CMT. Disclaimer This article is intended solely for educational and awareness purposes. References to DANCER, VoyageR, artificial intelligence platforms, research initiatives, organizations, and emerging technologies are based on publicly available information from their respective institutions and independent scientific sources. The Charcot Marie Tooth Foundation of India does not claim ownership of the technologies, platforms, trademarks, research projects, or associated intellectual property mentioned in this article unless explicitly stated. References to ongoing research or investigational approaches should not be interpreted as medical advice, endorsement, or guarantees of treatment outcomes.

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Beyond Diagnosis: CMT and the Right to Security, Dignity, and Opportunity

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When people search for Charcot-Marie-Tooth disease (CMT), the quick result usually explains it as an inherited neurological disorder affecting the peripheral nerves that control movement and sensation in the arms and legs. While medically accurate, this definition does not fully reflect the daily realities faced by individuals living with CMT. The purpose of awareness is not only to describe the condition, but to encourage meaningful solutions to the many small and large obstacles that are, in fact, resolvable. One of the most urgent concerns is access to fair and inclusive health insurance. Many individuals with CMT are capable, educated, independent, and willing to pay insurance premiums, yet they often face rejection, exclusion, or limited coverage simply because they have a genetic condition. This creates a deep sense of insecurity about the future. People with CMT often work twice as hard to prove their abilities. A physical condition such as foot drop or an irregular gait does not define their competence, dedication, or intelligence. The real burden is not always the disability itself, but the uncertainty of what happens if medical support or financial protection is denied. There is an immediate need for experts, policymakers, insurers, and healthcare professionals who are empowered, effective, and sensitive to these realities. Awareness must move beyond sympathy toward action — building systems that offer dignity, confidence, and equal opportunity to those living with CMT and other inherited neurological conditions.

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Welcoming Dr. Vineeth Jaison to Our Advisory Board

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We are pleased to announce that Dr. Vineeth Jaison joined the Advisory Board of the Charcot Marie Tooth Foundation of India on 5 May 2026. Dr. Jaison’s association with the CMT community strengthens our mission. We aim to support individuals and families affected by Charcot-Marie-Tooth (CMT) disease. We do this through greater awareness, medical guidance, advocacy, and access to reliable information. Dr. Vineeth Jaison Dr. Vineeth Jaison is an accomplished neurologist with over 18 years of clinical experience. He currently serves as Professor and Lead Consultant at the Neuromuscular Centre of Excellence and the Department of Neurology at Christian Medical College & Hospital, Ludhiana, Punjab. The institution is one of India’s leading tertiary care teaching hospitals. He completed his MBBS in 2004, followed by an MD in Internal Medicine in 2011 and a DM in Neurology in 2015. He completed all three degrees at Christian Medical College & Hospital, Ludhiana, under Baba Farid University of Health Sciences, Faridkot. Dr. Jaison has extensive experience in neurological and neuromuscular disorders. His clinical expertise includes rare and hereditary conditions such as Charcot-Marie-Tooth disease (CMT), Muscular Dystrophy, Spinal Muscular Atrophy (SMA), Congenital Myasthenic Syndrome, ALS, CIDP/GBS, Parkinson’s Disease, Dystonia, Autoimmune Encephalitis, and Epilepsy. He also performs advanced neurological procedures. These include EMG, EEG, autonomic function testing, evoked potential studies, and botulinum toxin therapy. In addition, Dr. Jaison oversees patient care in a dedicated 30-bed Neuro ICU and inpatient neurology ward. This experience allows him to manage both routine and complex neurological conditions. Over the years, Dr. Jaison has received several academic and professional recognitions. These include the Young Neurologist Award at WSC, Turkey, in 2014. He also received first prize at CARES, CMC Ludhiana, in 2015. In 2010, he won first prize in the Critical Care Quiz at PIMS Jalandhar. Dr. Jaison is also a member of several leading professional organisations. These include the American Academy of Neurology, the American Academy of Neuromuscular and Electrodiagnostic Medicine, and the Indian Academy of Neurology. As a member of our Advisory Board, Dr. Jaison will help guide our efforts to improve clinical awareness of CMT. He will also support accurate medical understanding of the disease. His expertise will help us provide patients and caregivers with evidence-based neurological insights. Welcome to the CMT Foundation of India We warmly welcome Dr. Vineeth Jaison to the Charcot Marie Tooth Foundation of India. We look forward to working with him to create a meaningful impact for the CMT community across India.

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