Category: Scientific

ADHD & Hyperfocus: The Phenomenon of Extreme Concentration

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Have you ever found yourself so deeply absorbed in what you’re doing that time passes by very quickly? Perhaps it’s playing a musical instrument, reading an exciting book, or learning a new skill.

For individuals who do not have ADHD (Attention-Deficit/Hyperactivity Disorder), this state of flow can be a pleasant or productive way to spend time. However, for those who suffer from ADHD, periods of hyperfocus can be both a blessing and a curse.

Hyperfocus is not an official symptom of ADHD. In fact, it sounds contradictory to what ADHD is more widely known for, which is inattention and lack of focus.

However, ADHD is not really a deficit of attention; it’s more of an abundance of attention. The challenge lies in learning how to regulate and control it.

When this excessive focus is not managed properly, you can experience what is known as hyperfocused ADHD. The good news is that you can learn to recognize hyperfocus and find ways to keep it under control!

At this point, I’d like to demystify many of the experiences that a person with hyperfocus goes through and address some misconceptions or misunderstandings. I want to delve into things like hyperfocus, overstimulation, “selective hearing,” “attention-seeking behaviors,” and emotional dysregulation.

A common characteristic for many neurodivergent individuals is the difficulty of verbally expressing what they are experiencing. They can sit in their own little world, and without the pressure of anyone standing in front of them, they let the words swell from within and flow out from their fingertips onto their laptop. Most, if not all neurodivergent individuals, long to share and have their stories heard.

“Hyperfocus, at least for me, feels almost like a way of being. I don’t feel like I choose my hyperfixations. I feel like they choose me, like a stray cat that shows up one day and decides it’s your pet now. Many of my hyperfixations have taken me by surprise, but one thing I know is that every hyperfixation feels like a Christmas gift from my brain.

Uruguay. Where is that? Oh, they speak an indigenous language more often than a colonial one? Tell me more! You mean mushrooms function like an internet network for trees? I’ll take five books. I just got a tattoo, and now I’m going to buy a tattoo suitcase on my hand and spend hours watching documentaries about the historical and cultural significance of tattoos.

Hyperfocus means I can quickly memorize a list of the 54 regions of Greece because I like the look of maps and I enjoy geography. It means I did really well in math class because there was nothing nice to look at or daydream about, but I excelled in history because the past is full of good stories and questions.

Hyperfocus feeds dopamine. That’s what those of us with ADHD desire. And that’s why every new fixation feels like Christmas. There’s a special kind of magic, almost like a new crush, when I discover a new hobby, and I’m ready to let my mind go on this adventure.”

What is ADHD Hyperfocus?

Hyperfocus occurs when you become fully immersed in something that interests you. This intense focus on a single topic can make you spend more time and energy on it than you intend to. If left unchecked, hyperfocus can lead to negative consequences and disrupt your daily functioning.

Individuals with ADHD are more likely to experience this heightened state of focus more intensely and frequently. In an ADHD hyperfocus state, you may disregard the passage of time and what is happening around you.

When you re-enter reality, you may become disoriented from your surroundings, as if coming out of a “trance.” It may also take some time to regain your orientation and adjust to “real life.”

If you have ADHD, you are more likely to become engrossed in something enjoyable or satisfying. This happens because ADHD changes how your brain perceives reward and satisfaction. Remember that this doesn’t make you a “lazy” or “irresponsible” adult. A brain with ADHD is simply wired to process information, stimulation, and pleasure differently than a brain without ADHD.

ADHD Hyperfixation vs. Hyperfocus

The terms ADHD hyperfixation and hyperfocus are often used interchangeably, but they refer to two different phenomena. ADHD hyperfixation refers to an intense and often prolonged state of concentration on a specific activity or object. This can lead to happiness, satisfaction, and sometimes increased productivity.

However, if not properly managed, a person may invest more time and effort into it than they can afford financially, neglecting their personal needs, duties, and everyday responsibilities. People with ADHD are more likely to experience symptoms of hyperfixation compared to those without ADHD.

On the other hand, ADHD hyperfocus refers to deep focus on a specific task or activity. Anyone can tap into this “flow state,” which is described as being fully dedicated to a task without internal distractions, fatigue, or boredom. Research also shows that this can increase productivity and is often associated with a sense of accomplishment.

While these two phenomena may be somewhat similar, hyperfixation is fueled by intense passion or interest in the activity. In contrast, hyperfocus is guided by tasks and often comes with clear goals and a strong sense of direction.

Controlling and regulating hyperfixation can be challenging. On the other hand, with hyperfocus, you can intentionally induce a “flow state” and adjust it as you wish.

Examples and Signs of Hyperfocus

When uncontrolled hyperfocus in ADHD occurs, a person may have an unhealthy obsession or addiction to a hobby, activity, or object. This is usually associated with the following signs:

  • Losing track of time
  • Disconnecting from the environment
  • Neglecting roles and responsibilities
  • Ignoring personal needs
  • Struggling to stop or change activities
  • Getting caught up in small details

Hyperfocus manifests differently from one person to another. Someone with ADHD may engage in a hobby like knitting or painting, or they might become engrossed in a random activity like cloud watching.

At times, this hyperfocus can be beneficial. Someone fully engrossed in a work-related task or project can dedicate hours to complete it without being distracted.

However, in other cases, it may affect how a person manages their daily tasks and responsibilities. For instance, someone who is deeply engaged in an activity might forget to eat, take a shower, or complete an important assignment.

The overflow of attention associated with ADHD is not necessarily a burden. You can harness this attention towards your current goals when you learn how to direct your focus.

How to Overcome Hyperfocus and Redirect Your Attention

You can overcome ADHD hyperfocus with professional support and proper strategies. Here’s how you can effectively manage your attention and make the most of it:

Set Healthy Boundaries

If you realize that a specific hobby or interest is taking up more and more of your time, try to set clear time boundaries for these activities. Here’s how you can set boundaries effectively:

  • Create a daily or weekly time limit for the activities or hobbies you’re fixated on.
  • Specify a time of day when these activities are allowed. For example, you can schedule them toward the end of the day to ensure you remain focused when working or studying.
  • Define the conditions under which you’ll allow yourself to engage in these activities, such as after exercising or during designated free time.
  • Ask friends and family to help keep you accountable by staying in touch with you.

Schedule Regular Breaks

Incorporate frequent breaks into your activities to prevent excessive immersion in them. Schedule a 5-10 minute break for every 30 minutes you dedicate to your favorite pursuits. During these breaks, you can have a snack, take a quick walk, or do something that helps you shift your focus away from the activity.

Stepping away from what you’re doing can prevent overindulgence in the activity and help you reorient your perception of time and reality.

Explore New Skills and Interests

Diversifying your range of hobbies makes it less likely that you’ll become excessively fixated on a specific activity. Challenge yourself by trying a new sport, learning a foreign language, or picking up a musical instrument. Volunteering is another great way to find enjoyment and fulfillment. When trying something new, it’s a good idea to approach it with healthy boundaries in mind.

Seeking advice and support

Seeking advice and support is crucial when dealing with ADHD hyperfocus. With a stable support system and professional guidance, you can manage your time and resources more effectively. Collaborating with a psychologist can create a safe space for discussing different strategies to help you avoid hyperfocus triggers, set firm boundaries, and prioritize daily activities.

Additionally, your psychologist may recommend Cognitive Behavioral Therapy (CBT) to assist you in managing ADHD hyperfocus and other related symptoms. This form of therapy can enhance motivation and focus while helping you address habits that affect your productivity and progress.

Utilize Tools and Resources

Effective time management is essential when dealing with ADHD hyperfocus. You can use various tools and resources to maximize your productivity, keep yourself focused, and better manage your time.

For example, consider using a time management app to create a daily schedule with time blocks for work and leisure. Additionally, you can try the Pomodoro Technique using a simple timer. This widely used time management method divides activities into intervals separated by short breaks.

A productivity app can help you track your daily responsibilities, ensuring that you complete everything you need to before indulging in leisure activities. ADHD hyperfocus doesn’t have to be the enemy of your productivity. It’s a common experience for individuals with ADHD, especially when engaging in activities they find interesting.

The tendency for hyperfocus doesn’t mean you have to stop doing activities you enjoy. What’s important is to establish the right boundaries, have a support system, and employ strategies to prevent these interests from taking over your life.

Source: Notos Press

Hopes for halting Duchenne muscular dystrophy

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“Duchenne Muscular Dystrophy (DMD) is a genetic disorder that progressively causes muscle degeneration throughout the body, leading to weakness and increasing disability. It is one of the most common forms of muscular dystrophy, with an annual incidence of 1 in 3,500 births worldwide.

Duchenne Muscular Dystrophy (DMD) primarily affects boys due to its X-linked inheritance pattern. Symptoms usually manifest around the age of 3-5 or even earlier. Girls can be carriers of the mutated gene and typically do not develop the disease, although they may experience muscle weakness and fatigue or cardiomyopathy at a later age.

Managing and treating Duchenne Muscular Dystrophy requires regular and multidisciplinary care from experienced healthcare professionals and support staff with various interventions. When a boy is diagnosed with DMD, it is essential to seek medical advice and perform necessary tests on family members who may be carriers or at risk of developing the condition. Physical therapy, combined with orthopedic aids and wheelchairs, orthopedic interventions when necessary, and symptomatic drug therapy, can reduce complications of the disease and improve functionality and quality of life.

Innovative Therapies

Innovative therapies for Duchenne Muscular Dystrophy have been introduced into clinical practice in recent years, with more in experimental stages or on the verge of clinical trials. Most of these therapies aim to increase the amount of dystrophin in muscles. Due to the large size of the dystrophin gene, it is challenging to deliver it to the body using viral vectors. Therefore, researchers focus on producing a smaller dystrophin, either through the replacement of a mini DMD gene (gene replacement), intervention at the mRNA level to prevent premature protein degradation due to specific premature termination mutations (read-through for premature stop codons), or skipping of incompatible exons resulting from deletions or duplications of DNA (exon skipping) to achieve the production of a smaller dystrophin.

In a significant development, the U.S. Food and Drug Administration (FDA) provisionally approved a new gene therapy for DMD patients aged 4-5 (Elevidys) for the first time in an emergency phase last June. It uses an adeno-associated viral (AAV) vector, which, after intravenous administration, transfers an artificial gene for a micro-dystrophin to muscle cells, where it begins to be produced and takes over some of the dystrophin’s functions inside muscle cells. The ongoing EMBARΚ study in 140 children with DMD has shown preliminary production of micro-dystrophin and an improvement in the clinical picture, particularly in this age group of patients. The expected final results of the Phase 3 clinical trial will help confirm and possibly approve the drug.

In addition to this treatment, other gene therapies for DMD are currently being tested. These include various variants of micro-dystrophin or the transfer of other genes that can stabilize muscle cells. New gene editing technologies, precise interventions for repairing genetic defects (such as gene editing CRISPR/Cas9, Prime editing), are also in development in experimental preclinical models of DMD. All of these advancements hold promise for a better prognosis and more effective treatment of the disease in the near future.

Neuromuscular Diseases Center in Cyprus

In our country, the Neuromuscular Diseases Center – the muscular dystrophy clinic of the Cyprus Institute of Neurology and Genetics (CING) has been at the forefront of diagnosing, treating, and providing multidisciplinary care for DMD patients for the past 30 years. The Center deals with the diagnosis and treatment of conditions such as myopathies and muscular dystrophies, motor neuron disease, myasthenia gravis, and peripheral neuropathies. It is supported by unique specialized laboratories in Cyprus, including electromyography, neurology, neurogenetics, biochemistry, and more. The Center implements new and specialized therapies for both local and international patients based on specific protocols and offers comprehensive care. Moreover, the center feeds into pioneering research programs involving clinical and basic research and provides education to medical and paramedical personnel. The Neuromuscular Diseases Center was accepted as an affiliated member of the European Reference Network for Neuromuscular Diseases (ERN-Neuromuscular), based in Paris, which involves top academic institutions from across Europe.

The Center provides comprehensive care for patients with neuromuscular diseases, including a multidisciplinary team consisting of a pulmonologist, orthopedic specialist, cardiologist, endocrinologist, gastroenterologist, dietitian, and speech therapist. It also offers support through genetic counseling, psychological support, and social services. Special emphasis is placed on physical therapy, with highly trained personnel for individual and group therapy to address mobility problems.

The Center has all the means for a complete diagnosis of neuromuscular diseases. The Electromyography Laboratory offers specialized electrophysiological examinations for identifying and characterizing dysfunction in the neuromuscular system. The Neuropathology Laboratory provides specialized diagnostic services concerning muscle and nerve biopsies for accurate diagnosis of neuromuscular diseases like muscular dystrophy, utilizing a wide range of histological and immunocytochemical techniques to evaluate the molecular structure and various metabolic functions of muscles.

Diagnostic Tests

The Department of Neurogenetics at CING closely collaborates with the Neuromuscular Diseases Center, providing a wide range of genetic diagnostic tests for most of the diseases monitored at the Center. The Department offers genetic DNA testing for patients, studies in families, and the possibility of next-generation sequencing for diagnostic and research purposes. The Biochemical Genetics Department at CING provides specialized laboratory tests on blood and muscle samples for the diagnosis of metabolic and other diseases. Additionally, the Thalassemia Department at CING offers pre-implantation diagnosis services for families with neuromuscular diseases.

Clinical trials for the treatment of Neuromuscular Diseases are conducted at the Center, as well as translational and basic research focusing on the diagnosis and treatment of neuromuscular diseases. Currently, there are four clinical trials underway for new therapeutic drugs for hereditary amyloid polyneuropathy (FAP) and autoimmune myositis.

Dr. Kleopas A. Kleopa is a Senior Neurologist, Director of the Department of Neurosciences, and Coordinator of the Neuromuscular Diseases Center at the Cyprus Institute of Neurology (CING).

Source: Φilenews

How Fires Affect the Eyes – Irritations and Inflammations of the Eyes that Impact Vision.

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Over the past decade, devastating forest fires have struck Australia, Europe, and America, exposing millions of people to their toxic smoke. This has consequences for the human body, with the eyes, which have direct contact with their surface, being one of the first organs affected.

“The smooth function of the eye’s surface (ocular surface) is crucial for vision. However, it is not a single entity but consists of individual structures, each of which can be affected by smoke,” says Dr. Anastasios-I. Kanellopoulos, MD, Ophthalmic Surgeon, founder and Scientific Director of the LaserVision Ophthalmology Institute, Professor of Ophthalmology at the University of New York.

The ocular surface is composed of the corneal epithelium, the conjunctiva, the tear film, the eyelids, and glands that produce various components of the tear film.

The movement of the eyelids stimulates the production of tears, which coat the cornea and conjunctiva. This ensures their adequate hydration, nourishment, and protection from pathogenic microorganisms and toxins.

Anything that disrupts the balance of this system can lead to eye irritation and inflammation that affect vision.

The smoke from forest fires consists of thousands of components, including solids (molecules, heavy metals, organic microorganisms, etc.), vapors, and complex mixtures of gases such as carbon monoxide, sulfur dioxide, nitrogen oxides, ozone, etc. It may also contain volatile compounds, microscopic suspended particles, and more. Additionally, because forests are often near buildings, businesses, or infrastructure that may burn, smoke from forest fires can contain many other chemicals and toxic compounds.

Exposure of the ocular surface to all these components can cause symptoms in both the personnel trying to extinguish the fires and the general population. Moreover, it’s not just the residents of affected areas who are at risk, but people hundreds of kilometers away, as smoke from forest fires can cover vast distances, driven by strong winds.

“Many people experience eye irritation and inflammation from wildfires. This is even more likely to occur in those who already have eye disorders such as dry eye, blepharitis, or allergic conjunctivitis,” notes Dr. Kanellopoulos. “Irritation and inflammation from smoke can cause a burning sensation, stinging in the eyes, redness, and increased tear production (tearing). Patients may also feel a foreign body sensation in their eyes, dryness, and grittiness.”

Especially in areas with heavy smoke, some patients may experience changes in their vision (e.g., blurriness), irritation of the conjunctiva, or, more rarely, severe dry eye that damages the corneal surface and affects visual acuity.

Furthermore, with prolonged exposure to smoke from forest fires, intense inflammation of the conjunctiva can occur, promoting the formation of scars. These scars can lead to a condition called trichiasis, where eyelashes grow inwards (towards the eyeball), constantly touching and irritating the conjunctiva or cornea.

When smoke from fires has a high concentration of microscopic suspended particles, it can reduce vision by causing severe eye irritation. These particles can also trigger allergic reactions.

Smoke from wildfires can cause significant discomfort for contact lens wearers, as it can get trapped between the lenses and the eyes, causing inflammation and pain.

“Fortunately, the effects of smoke from forest fires on the eyes appear to be temporary. However, we do not know if the repeated exposure to smoke, which we have been experiencing in recent years, will have long-term consequences,” emphasizes the professor. “We know that those living in areas with high levels of atmospheric pollution have a significantly increased likelihood of developing dry eye and long-term serious conditions such as glaucoma and age-related macular degeneration. However, this data comes from studies on atmospheric pollution from sources such as the combustion of fossil fuels and industrial processes. Special research is needed to determine if and what kind of long-term consequences the exposure of the eyes to airborne toxic pollutants from forest fires may have.”

This does not mean that we are defenseless against potential risks. To protect ourselves when there is smoke from a forest fire in the atmosphere, the first thing we should do is enter an indoor space with closed doors and windows. If you have air conditioning with HEPA air filters, you can use it to refresh the indoor air without the smoke particles.

If you have pre-existing ocular surface conditions (e.g., dry eye, conjunctivitis), do not go outside at all. To protect and relieve your eyes, use artificial tears. Patients with eye conditions who are already using them may need to increase their application (up to twice the usual amount) until the atmosphere is clear of smoke.

If it’s necessary to go outdoors, wear glasses that cover your face well to reduce the airflow entering your eyes.

Finally, if you wear contact lenses, “make sure you strictly adhere to hygiene and replacement rules. However, if the fires continue, you may need to wear your corrective glasses for a while,” concludes Dr. Kanellopoulos.

Source: e-farmako.gr

There is a gene that may affect our biological clock and is associated with the development of autistic disorders.

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A recent study published in the prestigious journal Molecular Psychiatry by a team of scientists from the Medical School of the University of Minnesota, the University of Texas, San Antonio, and the Institute of Biomedical Research (IBR) of the Foundation for Research and Technology (FORTH) reveals that a gene that plays a central role in regulating the circadian or biological clock may be associated with the development of autism spectrum disorder (ASD).

Neurodevelopmental disorder of the autistic spectrum (ASD) is characterized by a wide range of behavioral changes, including social skills, repetitive behaviors, speech, and non-verbal communication. According to the Centers for Disease Control and Prevention, ASD affects 1 in 44 children in the U.S.

Approximately 50-80% of children with ASD experience sleep problems, while this percentage is less than 30% for the general population. The causes of sleep problems in ASD are not fully clear, but the dysfunction of our internal clock could be a factor.

“It has long been recognized that the function of our internal clock is often disrupted in patients with autism, and these patients often present various sleep problems,” said Dr. Ruifeng Cao, Associate Professor of Neurosciences at the Medical School of the University of Minnesota. “But it is not yet known whether autism can be directly triggered by the disruption of the circadian rhythm gene.”

This study found that the disruption of a significant gene that regulates the circadian rhythm, in preclinical models, can lead to phenotypes resembling autism.

Specifically, the deletion of the Bmal1 gene can cause significant changes in social behavior, communication, and repetitive behaviors.

The models also exhibited impairments in their pineal gland or “pineal ataxia.” The research team further examined the pathological changes in the pineal gland and identified a series of cellular and molecular changes that suggest neurodevelopmental deficits.

The disruption of this gene could potentially constitute a mechanism underlying various forms of autism and possibly other neurodevelopmental disorders, and this discovery paves the way for further exciting research,” stated Dr. Christos Gkogkas, Principal Investigator of Neurobiology at the Institute of Biomedical Research (IBR) of the Foundation for Research and Technology (FORTH).

The research team plans to continue studying other circadian rhythm genes that are mutated in ASD. Specifically, they recommend the development of new therapeutic strategies based on their findings.

This study is supported by grants from the National Institutes of Health and the Winston and Maxine Wallin Neuroscience Discovery Fund.

The research team consists of professors Harry Orr, Alfonso Araque, Paulo Kofuji, and Jonathan Jonathan Gewirtz (now at the University of Arizona) from the University of Minnesota, as well as Prof. Victor Jin from the University of Texas Health Science Center at San Antonio, and Dr. Kleanthi Halkiadaki and Dr. Christos Gkogkas from the Institute of Biomedical Research (IBR) of FORTH in Greece.

Source: FemaleG

The research team consists of professors Harry Orr, Alfonso Araque, Paulo Kofuji, and Jonathan Jonathan Gewirtz (now at the University of Arizona) from the University of Minnesota, as well as Prof. Victor Jin from the University of Texas Health Science Center at San Antonio, and Dr. Kleanthi Halkiadaki and Dr. Christos Gkogkas from the Institute of Biomedical Research (IBR) of FORTH in Greece.

The WHO expands access to life-saving drugs for patients with thalassemia.

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The World Health Organization has undertaken a review of the Essential Medicines Lists (EML) that all countries must provide to their adult and pediatric citizens, now including the three iron chelation drugs used for the treatment of patients with thalassemia. This decision marks a significant milestone in the global effort to improve access to critical pharmacological alternatives for the effective management of this condition.

Thalassemia is a genetic blood disorder that requires lifelong management, including regular iron chelation therapy to prevent iron overload, a potentially life-threatening complication.

Until recently, the WHO recommended only the active ingredient deferasirox for the treatment of chronic iron overload in the essential medicines lists, limiting patients’ access to other essential therapeutic options.

However, since 2019, the International Thalassemia Federation (ITF) has made vigorous efforts for the inclusion of two other approved iron chelation therapies, deferoxamine and deferiprone, in the relevant lists, recognizing the importance of providing global access to a comprehensive range of alternative solutions for physicians and patients.

The ITF welcomes the decision of the WHO, with which it has maintained official relations since 1996, to include the aforementioned drugs in the essential medicines lists. Their inclusion is a direct result of collective efforts and collaboration between the Federation and the Organization. This specific development is expected to have an immediate positive impact, enhancing the standard of care for thalassemia management worldwide and providing hope for millions of individuals living with this challenging condition, especially in low- and middle-income countries where access to basic medical care for thalassemia patients is often a challenge.

Dr. Androulla Eleftheriou, Executive Director of ITF, expressed her gratitude to WHO for considering the Federation’s recommendations. “This decision aligns with our vision of ensuring equal access to essential medications for all individuals suffering from thalassemia,” she stated. “Now, physicians worldwide can confidently prescribe the most suitable iron chelation agents based on their patients’ specific needs, optimizing the outcomes of their treatment.

For over 40 years, countries around the world have relied on WHO’s essential medicines lists, which are reviewed biennially, for the development and updating of national pharmaceutical catalogs. These lists serve as well-documented guides for the most significant medications that address the primary healthcare needs of populations across the planet.

The 2023 editions also include essential new drugs for the treatment of multiple sclerosis, cancer, infectious diseases, and cardiovascular conditions, among others.

Established in Cyprus since 1986, with a presence in over 62 countries globally, the International Thalassemia Federation remains committed to promoting research, awareness, and global cooperation for the benefit of individuals afflicted by thalassemia and other hemoglobin disorders. This significant achievement stands as evidence of the ongoing efforts of healthcare professionals, patient advocacy groups, and the entire medical community.

Source: nomisma

Significant Achievement: They found a way to reprogram the bone marrow cells.

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How did mRNA technology contribute to evolution. Which diseases could be addressed using this technique.

Scientists from the USA announced that they have developed a method to directly reprogram bone marrow cells within the body.

If this technique proves equally successful in clinical practice, it could potentially replace hematopoietic stem cell transplants in the future. These are performed on patients with hematological disorders (e.g., leukemia) after undergoing intensive chemotherapy.

Furthermore, it may also lead to the treatment of previously incurable diseases, such as hemoglobinopathies (e.g., sickle cell anemia).

The method is based on the direct delivery of mRNA into a patient’s bone marrow stem cells. This is achieved using a technique similar to the one developed for coronavirus vaccines.

Once the mRNA reaches the target cells, it corrects the genetic mutations responsible for the specific disorder. As a result, the bone marrow of the patient begins to produce healthy cells.

Scientists from the Children’s Hospital of Philadelphia (CHOP), who developed the method, successfully applied it in experiments on animals and in cellular series in the laboratory.

They corrected a genetic mutation.

The new findings are being published in the scientific journal Science. As explained by the researchers, they tested their technique on the bone marrow of living mice and on hematopoietic stem cells from four patients with sickle cell disease.

In human samples, the method corrected the genetic mutation that causes a portion of the patients’ red blood cells to have a sickle shape. The normal shape of red blood cells is oval.

This discovery suggests that gene editing of bone marrow could be feasible without the usual process used today.

The typical procedure involves finding a compatible donor and obtaining hematopoietic cells from them. These cells are then transplanted into the patient, who must take medication for a significant period to prevent rejection by the body.

Practical Implications

The new findings could potentially revolutionize genetic therapies, stated Dr. Laura Breda, Head Researcher and Associate Professor of Hematology at CHOP.

For instance, they could lead to the treatment of both hematological and non-hematological disorders caused by specific genetic mutations, such as:

  • Hemoglobinopathies (e.g., sickle cell anemia, thalassemia)
  • Inherited anemias or thrombocytopenias
  • Immune deficiencies
  • Cystic fibrosis
  • Various metabolic disorders
  • Muscular dystrophies

All of these conditions could potentially be addressed through a simple intravenous infusion of targeted gene therapies,” she said. However, she was quick to clarify that this won’t happen in the near future. Many more research efforts are needed before the method can be tested in humans, she emphasized.

Source: iatropedia

The vision of a boy was restored through gene therapy drops

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Dr. Alfonso Sabater retrieved two photographs of Antonio Vento Carvajal’s eyes. One showed cloudy scars covering both eye bulbs. The other, taken after months of gene therapy administered through eye drops, revealed no scars in either of the two eyes.

Antonio, who was legally blind for a significant part of his 14 years, can see again.

The teenager was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over the body, including the eyes. However, his skin improved when he enrolled in a clinical trial for the world’s first localized gene therapy. This gave Dr. Sabater an idea: What if it could be adapted for Antonio’s eyes?

This realization not only helped Antonio but also opened the door to similar therapies that could potentially treat millions of people with other ocular conditions, including common disorders.

Antonio’s mother, Yuni Carvajal, cried thinking about what Dr. Sabater did for her son.

“He was there for everything,” she said in Spanish to The Associated Press during a visit to the Bascom Palmer Eye Institute at the University of Miami Health System. “He’s not just a good doctor but also such a good person, and he gave us hope. He never gave up.”

The family came to the U.S. from Cuba in 2012 on a special visa that allowed Antonio to receive treatment for his condition, which affects around 3,000 people worldwide. He underwent surgeries to remove scar tissue from his eyes, but it kept growing back. Antonio’s vision was constantly deteriorating, and it eventually worsened to the point where he didn’t feel safe walking.

Sabater didn’t have answers and tried to reassure the boy, “I will find a solution. I just need a little time. I’m working on it.”

“Yes, I know you’ll make it,” Sabater recalls Antonio saying. “That gave me the energy to keep going.”

At some point, Carvajal told Sabater about the experimental gene therapy gel for Antonio’s skin condition. She reached out to the pharmaceutical company Krystal Biotech to see if it could be adapted for the boy’s eyes.

Suma Krishnan, co-founder and president of research and development at the Pittsburgh-based company, said the idea made sense and “it doesn’t hurt to try.”

Antonio’s condition is caused by mutations in a gene that contributes to the production of a protein called collagen 7, which anchors both the skin and the cornea. The therapy, called Vyjuvek, uses a disabled herpes simplex virus to deliver functional copies of this gene. The eye drops use the same fluid as the skin version, just without the added gel.

After two years, including trials of the drug in mice, the team received “compassionate use” approval from the U.S. Food and Drug Administration and clearance from the University and Hospital review boards. Last August, Antonio underwent eye surgery on his right eye, after which Sabater started giving him the eye drops.

Krishnan said they were cautious, closely monitoring to ensure safety.

Antonio’s eye recovered from the surgery, the scars did not return, and there was significant improvement each month, according to Sabater. Recently, doctors measured Antonio’s vision in his right eye at nearly perfect 20/25.

Source: Ethnikos Kyrix

Sun and Vision: A “dangerous” relationship – How to protect your eyes from ultraviolet radiation

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Dr. Anastasios-I. Kanellopoulos, Ophthalmologist, among other things, mentions what you should do to protect your eyes from ultraviolet radiation.

Although most of us know that we should protect our skin from the sun, we forget that protecting our eyes from ultraviolet radiation is equally important, especially during the summer.

“The right sunglasses are essential for both children and adults as they provide significant protection not only for the eyes but also for the area around them.”

There are three types of ultraviolet radiation: UVA, UVB, and UVC.

UVC is absorbed by the ozone layer and does not pose a threat to vision (or the skin).

UVA and UVB have short-term and long-term consequences on the eyes and vision, as stated by Dr. Anastasios-I. Kanellopoulos, MD, Ophthalmologist, founder and scientific director of LaserVision, and Professor of Ophthalmology at the University of New York.

Sunburn of the eyes

“When the eyes are exposed to large amounts of UV radiation for a short period, it can lead to a condition called photokeratitis, which can be described as sunburn of the eyes. It causes redness and a sensation of foreign body or sand grains in the eyes. It also results in heightened sensitivity to light and tearing, often accompanied by intense eye pain.”

Αbsolutely, photokeratitis is the cause of vision loss for those who spend long periods in the snow without wearing sunglasses.

Generally, the longer the exposure of the eyes to solar radiation, the higher the likelihood of developing serious damage both to the superficial tissues of the eye (mainly the cornea and the crystalline lens) and to those located deep within the eyes, such as the choroid.,” emphasizes the professor.

These damages can manifest in the long term as serious conditions, such as cataracts, macular degeneration, and cancer on the eyelids or inside the eye (ocular melanoma).

“However, since we do not know exactly how much exposure to ultraviolet radiation is required to cause damage to the eyes, it is recommended that both children and adults never go out in the sun without high-quality sunglasses and a wide-brimmed hat,” emphasizes Dr. Kanellopoulos.

Adequate protection of the eyes from UVA and UVB radiation.

Sunglasses for adequate protection should block 99-100% of UVA and UVB radiation, repel 75-90% of visible light, have lenses with consistent color without imperfections, and preferably have gray-tinted lenses to allow good color recognition of the surroundings.

“It is important for the sunglasses to cover the eyes from the sides as well since solar radiation can be reflected from smooth surfaces, thus reaching the eyes at an angle.”

Research has shown that water reflects up to 100% of UV rays, while dry sand and concrete reflect up to 25%, and even grass reflects a small percentage. Those who participate in activities or sports that may lead to eye injuries should use glasses with polycarbonate or trivex lenses, two synthetic materials that offer high resistance in case of impact.

individuals belonging to high-risk groups for UV radiation damage include

While solar radiation can indeed cause problems for everyone’s eyes, there are certain population groups that belong to high-risk categories,” emphasizes Dr. Kanellopoulos, who refers to the issues and risks that individuals in these groups face, such as:

  • “Young children are at a higher risk as they are frequently exposed to the sun more than adults while playing outdoors. The annual sun exposure for children is three times higher than that of adults. However, only 5% of adults report that their children always wear sunglasses, and 15% admit that they don’t even wear hats. Children are at significant risk of eye disorders due to sun exposure because their eye lenses are immature and do not effectively filter UV rays, leading to high levels of UV reaching deep into their eyes.
  • Additionally, individuals with blue or light green eyes who go out in the sun without sunglasses and a hat are at an increased risk of developing rare forms of eye cancer, such as iris or choroid melanoma.
  • People who have undergone cataract surgery, as the cloudy natural lens of the eye is removed and replaced with an artificial lens, are more exposed to the sun’s ultraviolet radiation, especially if the artificial lens implanted is of an older type (newer lenses are more absorbent). Therefore, those who have had cataract surgery should not go out in the sun without sunglasses and a wide-brimmed hat.
  • Patients taking medications that increase photosensitivity may also make their eyes sensitive to the sun. Some drugs in this category include certain antibiotics (fluoroquinolones, tetracyclines), oral contraceptives and estrogen-containing medications, psoralens (used for skin conditions like psoriasis), certain diuretics, and tranquilizers.

Αν παίρνετε συστηματικά φάρμακα για οποιονδήποτε λόγο, συζητήστε με τον οφθαλμίατρό σας το ενδεχόμενο να προκαλούν φωτοευαισθησία», καταλήγει ο δρ Κανελλόπουλος.

Source: News4health