Category: Scientific

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.

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Source: News4health