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Genetic disorders are illnesses caused by alterations in a person’s DNA due to mutations in one or more genes or chromosome defects. Some common genetic disorders include Down syndrome, sickle cell anemia, Sturge-Weber syndrome, Laughing syndrome, Barrett’s syndrome, Joubert syndrome, Duchenne muscular dystrophy (DMD), and many others. These disorders can affect almost every organ in the body, depending on the genes involved, developmental problems, or underlying genetic conditions.

Genetic disorders can either be inherited from parents or occur spontaneously due to genetic mutations. In almost all cases, these diseases cause changes in the way cells or tissues function, their development, morphology, physiology, and metabolism, significantly lowering an individual’s quality of life. In a conversation with Jagran English, Dr. Pradeep Mahajan, Medical Director at Mahajan Hospital and Regenerative Medicine Researcher at StemRx Bioscience Pvt Ltd., discussed how to overcome genetic diseases through advanced medical approaches beyond traditional treatments.

What Are The Conventional Approaches To Genetic Diseases?

Genetic diseases have long been considered incurable, with treatment primarily focused on managing symptoms. Conventional approaches include:

  1. Medications to control symptoms (e.g., hydroxyurea for sickle cell anemia)
  2. Physical therapy to improve mobility and muscle function
  3. Lifestyle modifications to manage daily challenges

For example, medications can help control the symptoms of ataxia, Friedrich’s ataxia, sickle cell anemia, and G6PD deficiency, but patients often rely on these treatments for life. Antisense nucleotide therapies are also used in genetic diseases, but they do not completely eliminate the root cause.

Moving Beyond Pills: The Promise Of Cell-Based Therapies

According to Dr. Pradeep Mahajan, “Pills-to-cells therapy offers a promising alternative, as cell-based treatments aim to address the root cause of genetic diseases rather than just their symptoms. When traditional medications fail to provide results, we advocate for cell-based therapies as an effective substitute.”

Unlike conventional medications, which only provide temporary relief, advanced cellular therapies work by modifying or replacing defective cells, potentially restoring normal function or significantly slowing disease progression. Traditional pills have limitations—they may not halt disease progression, restore normal body functions, or prevent complications. Additionally, some medications have serious side effects that negatively impact a patient’s quality of life.

For instance:

  1. Hydroxyurea for sickle cell anemia reduces painful crises but does not correct the underlying genetic mutation.
  2. Duchenne muscular dystrophy (DMD), an X-linked disorder, leads to progressive muscle loss due to the absence of dystrophin, resulting in severe mobility issues and life-threatening conditions such as heart failure.
  3. Down syndrome (Trisomy 21) results in developmental delays, cognitive impairment, and physical deformities such as wide eye canthus, high-arched palate, and nasal abnormalities.

What Is The Role Of Stem Cells In Treating Genetic Diseases?

StemRx’s regenerative therapies, particularly stem cell treatments, are revolutionizing genetic disease management by targeting the root cause rather than just symptoms. Unlike conventional treatments, pills-to-cells therapy represents a paradigm shift in medicine, focusing on cellular-level interventions that address genetic defects directly.

Stem cells hold immense potential for replacing or repairing defective cells. These cells can differentiate into any cell type, making them an effective tool for repairing damaged tissues.

Examples Of Stem Cell Success In Genetic Diseases

Sickle Cell Anemia:

  1. Hematopoietic stem cell transplants have successfully replaced defective blood cells with healthy ones, leading to long-term remission in some cases.
  2. While traditional medications offer symptomatic relief, they do not correct the genetic mutation—which is where cell therapy proves more effective.

Duchenne Muscular Dystrophy (DMD):

  1. Gene editing technologies like CRISPR-Cas9, combined with stem cell therapy, show promise in correcting dystrophin mutations, potentially restoring muscle function and halting disease progression.
  2. Unlike pills, which only manage symptoms temporarily, stem cells can directly repair genetic defects.

Down Syndrome:

  1. Research into neural stem cells aims to reduce cognitive deficits.
  2. While medications provide temporary improvements, cell-based therapies offer a deeper, long-lasting solution by regenerating damaged neural tissues.

Guillain-Barré Syndrome (GBS):

  1. Stem cells are being explored to repair nerve damage and regulate immune responses, potentially leading to full recovery.
  2. The ability of stem cells to rebuild and repair nerve tissues demonstrates their superiority over traditional medications.

A New Era In Medicine: From Symptom Management To Disease Eradication

At the conclusion of the discussion, Dr. Pradeep Mahajan emphasised, "Stem cell therapy marks a shift from symptomatic relief to curative potential. It targets genetic and cellular defects, offering lasting solutions. The transition from pills to cells signifies a new era in medicine—one where treatments no longer focus solely on managing symptoms but on potentially eliminating diseases altogether."

While traditional medicine provides temporary relief, it falls short of delivering a cure. Stem cell therapy, combined with energy medicine, peptides, and mitochondrial function therapies, brings renewed hope to millions affected by genetic disorders worldwide. By addressing the genetic root of the problem, stem cells offer the potential to transform how we treat genetic diseases, making effective management—or even eradication—a possibility.