Autism May Be 14 Times More Likely with This Hidden Condition

Updated Apr 22, 2025 | 04:00 AM IST

Autism May Be 14 Times More Likely with This Hidden Condition

SummaryAutism, a complex neurodevelopmental condition, may be 14 times more likely in individuals with the rare genetic disorder DM1, shedding light on potential genetic roots of autistic spectrum disorder. Children with myotonic dystrophy type 1 (DM1) are 14 times more likely to develop autism spectrum disorder, highlighting a critical genetic link that could unlock new diagnostic and treatment pathways.

A new study has revealed an unexpected link between autism and a rare genetic disorder, shedding new light on the causes of autism spectrum disorder (ASD). Scientists have discovered that people with myotonic dystrophy type 1 (DM1) — a rare, inherited neuromuscular disorder — are 14 times more likely to develop autism than the general population.

While autism touches an estimated 7 million Americans, DM1 touches about 140,000, making it far less common. Nevertheless, the discoveries are revolutionizing how scientists think about the genetic structure of autism and revealing possible biological mechanisms that could drive its development.

What Is Genetic Condition Called?

DM1 is an inherited disorder where muscles become weak and progressively lose their strength, muscles tire easily, there are uncontrollable movements of the face or limbs, and there is cognitive impairment. It is a result of DMPK gene mutation where the gene function is compromised by tandem repeat expansions (TREs), which are repetitions of DNA. This generates poisonous RNA that then interferes with the capacity of the body to synthesize crucial proteins in the muscles and the brain.

What is so worrisome about this disorder in the case of autism is that it has an effect on neural development and gene expression within the brain. DM1 may change the way the brain develops connections early in life — an age when developing communication skills, social behavior, and learning habits is most important, all of which are frequently affected in those with autism.

Genetic Insights: Connecting the Dots Between DM1 and Autism

In a comprehensive research conducted by the University of Nevada Las Vegas (UNLV) and published in Nature Neuroscience, scientists compared RNA in 38 sets of genes from people with and without autism. RNA is crucial in gene expression for enabling DNA instructions to be translated into functioning proteins.

The researchers found that when the DMPK gene experiences tandem repeat expansion, the resulting RNA abnormally binds to proteins essential for the splicing of genes — an important process for gene function in brain development. The misbinding depletes proteins and triggers a cascading effect of mis-spliced genes, the majority of which contribute to regulating brain function and development.

This is a new paradigm for how to think about the genetic landscape of autism," said Dr. Ryan Yuen, senior scientist at the Hospital for Sick Children and author of the study. "We now understand that defective RNA has the ability to behave like a sponge, attracting away vital proteins necessary for proper brain development. This may be the reason why DM1 has a connection to the social, behavioral symptoms we identify with ASD."

What is Tandem Repeat Expansions (TREs)?

TREs happen when DNA sections repeat more times than usual, leading to the risk of genetic mistakes. TREs are now found to happen more frequently in people with autism, with previous research by Dr. Yuen that found over 2,500 sites in the genome where TREs disproportionately occurred in ASD-diagnosed individuals.

In DM1, the increased repeats in the DMPK gene disrupt protein regulation throughout the genome. This interference not only leads to muscle weakness and heart disease but also potentially underlies some of the neurological features seen in autism — including repetitive behavior, poor coordination, and sensory sensitivities.

Perhaps the most thrilling implication of this breakthrough is its potential for targeted therapies. Scientists are now investigating how to restore protein balance by either releasing bound toxic RNA-bound proteins or reintroducing critical proteins into the genome. These approaches could lead to precision medicine that targets the genetic dysfunctions underlying both DM1 and ASD directly.

"By knowing the specific molecular pathways that are affected, we can start to create therapies that are really personalized," Dr. Yuen said. "It's no longer about treating autism symptoms—it's about fixing the underlying causes."

As the genetic link between DM1 and autism continues to unravel, yet another recent Chinese study is bringing hope in the guise of a non-surgical brain stimulation method called transcranial pulsed current stimulation (tPCS).

It's a therapy that uses electrodes placed on the scalp to deliver mild electrical impulses into target areas of the brain. In a 20-session trial with children between ages 3 and 14, the ones who got tPCS for four weeks improved significantly in sleep, language, sensory responsiveness, and social interaction. While still in the experimental stage, it promises that brain modulation technology could supplement genetic treatments for ASD in the future.

The sense of urgency is also heightened by the newest CDC statistics, which say that 1 in 31 children in the U.S. is now diagnosed with autism a rate that has skyrocketed from 1 in 150 in the early 2000s. Although some attribute the increase to improved screening and awareness, others think that environmental toxins, including exposure to pesticides, food additives, or too many ultrasound scans, could be playing a role.

Whatever the reason, what's certain is that autism is no longer an either-or condition that can be treated with blanket solutions. The connection between DM1 and ASD has made it necessary for all diagnostics and therapies to be based on the most advanced genetic knowledge.

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World Malaria Day 2025: Theme, History, and Significance

Credits: Canva

Updated Apr 25, 2025 | 07:00 AM IST

World Malaria Day 2025: Theme, History, And Significance

SummaryOn this day in 2007, for the first time, the presence of malaria was acknowledged globally, and thus came the World Malaria Day, which is now observed every year on April 25. Know what makes it different with its theme this year. Read on.

Every year on 25 April, World Malaria Day is observed to raise awareness about one of the deadliest yet preventable diseases. As per the World Health Organization (WHO), there were 263 million malaria cases and 5,97,000 malaria deaths across 83 countries in 2023. The WHO African Region carries a disproportionately high share of the global malaria burden. As per the numbers, this Region was home to 94% of the malaria cases, accounting for 246 million and 95% of malaria deaths. Children under 5 accounted for about 75% of all malaria deaths in the Region.

Ahead of World Malaria Day, WHO also called for renewed efforts at all levels - from global policy to community action to accelerate progress towards eliminating malaria.

World Malaria Day 2025 Theme

This year, WHO has joined the RBM Partnership to End Malaria and other partners in promoting: "Malaria Ends With US: Reinvest, Reimagine, Reignite". This is a grassroot campaign that aims to re-energize efforts at all levels, from global policy to community action, to accelerate progress towards malaria elimination.

World Malaria Day History

World Malaria Day was first celebrated internationally in 2008, building upon the earlier "Africa Malaria Day", which had been observed b African countries since 2001. The date, April 25, was established by WHO in 2007 during the World Health Assembly. In 2007, it was the 60th session of the World Health Assembly where the proposal to rename Africa Malaria Day to World Malaria Day was made to acknowledge the global presence of malaria.

World Malaria Day Significance

The day has a strong significance in healthcare as it brings attention to the disease that still continues to take so many lives, especially in low-income and tropical regions. It also serves as an important reminder to continue spreading awareness about the disease as well as promoting its prevention, treatment and continuous international cooperation to fight against it.

What Is Malaria?

The WHO describes malaria as a life-threatening disease spread to humans by some types of mosquitoes, mostly found in tropical countries. However, they are preventable and curable.

WHO notes: "Malaria is spread to people through the bites of some infected anopheles mosquitoes. Blood transfusion and contaminated needles may also transmit malaria. The first symptoms may be mild, similar to many febrile illnesses, and difficult to recognize as malaria. Left untreated, P. falciparum malaria can progress to severe illness and death within 24 hours.

There are 5 Plasmodium parasite species that cause malaria in humans, and 2 of these species – P. falciparum and P. vivax – pose the greatest threat. P. falciparum is the deadliest malaria parasite and the most prevalent on the African continent. P. vivax is the dominant malaria parasite in most countries outside of sub-Saharan Africa. The other malaria species which can infect humans are P. malariae, P. ovale and P. knowlesi."

What Are The Symptoms?

The early symptoms are fever, headache and chills, which can usually start within 10 to 15 days of getting bitten by an infected mosquito.

Some types of malaria can cause severe illness and death. Infants, children under 5 years, pregnant women, travellers and people with HIV or AIDS are at higher risk. Severe symptoms include:

  • extreme tiredness and fatigue
  • impaired consciousness
  • multiple convulsions
  • difficulty breathing
  • dark or bloody urine
  • jaundice (yellowing of the eyes and skin)
  • abnormal bleeding

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Blood Test That Can Detect 12 Types Of Cancer To Go On Trial In UK

Credit: Canva

Updated Apr 25, 2025 | 03:00 AM IST

Blood Test That Can Detect 12 Types Of Cancer To Go On Trial In UK

SummaryInitial tests have produced promising results, having shown that it is able to detect 12 of the most lethal and common cancers, including bowel cancer, at an early stage, with over 99% accuracy.

A new AI-powered blood test that can detect 12 types of cancer is to be tested on NHS patients. Using this test, experts would now be able to detect cancerous cells in people much before the symptoms appear. The trial, conducted on 8,000 patients, will analyse blood samples for tiny fragments of genetic material released by tumours.

The test called miONCO-Dx, was created using data from 20,000 patients. Initial tests have produced promising results, having shown that it can detect 12 of the most lethal and common cancers, including bowel cancer, at an early stage, with over 99% accuracy. With no other trial currently working in the same way, this is a world-leader and will support in placing Britain at the forefront of revolutionising healthcare. Notably, the UK government has awarded £2.4m to run the trial of the genetic test, which was developed by the University of Southampton and the biotech startup Xgenera.

How Does It Work?

The test was created by Xgenera, in collaboration with the University of Southampton. As little as 10 drops of blood are all that's needed to detect up to 12 common cancers. The test works by measuring the microRNA in a blood sample and using AI to identify if cancer is present and, if so, where it is located in the body.

What Cancers Will It Detect?

Lung, gastric, prostate, oesophageal, liver, bladder, ovarian, bowel, pancreatic and breast cancers–as well as bone and soft tissue sarcoma and a type of brain tumour. The Department of Health said the test was now ready for the "validation and verification" stage.

Professor Sir Stephen Powis, NHS England's national medical director, said: "This blood test has the potential to help us detect bowel cancer earlier and reduce the need for invasive tests, and the next step in this trial will now be vital in gathering further evidence on its effectiveness and how it could work in practice."

How Is A Blood Test Conducted?

A blood test is a simple medical procedure used to check various health conditions. Here's how it is typically conducted:

1. Preparation: Depending on the test, you may be asked to fast for 8–12 hours. The healthcare provider will explain any specific instructions.

2. Collection: You’ll usually be seated or lying down. A healthcare professional will tie a tourniquet around your upper arm to make the veins more visible. The inside of your elbow is the most common site for drawing blood.

3. Cleaning: The area is cleaned with an antiseptic to reduce the risk of infection.

4. Drawing Blood: A sterile needle is inserted into the vein, and blood is collected into one or more vials or tubes.

5. Post-collection: Once enough blood is collected, the needle is removed, and a cotton ball or bandage is applied to stop any bleeding.

6. Processing: The blood samples are then sent to a lab for analysis.

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Novavax Says FDA Approval Back on Track for Its COVID Vaccine

Credits: Canva

Updated Apr 24, 2025 | 10:00 AM IST

Novavax Says FDA Approval Back on Track for Its COVID Vaccine

SummaryNovavax’s vaccine, which is the only protein-based COVID-19 vaccine, is awaiting for its full approval. Once approved, it could remain on the market even after the official end of the COVID-19 public health emergency.

Novovax, the maker of the only protein-based COVID-19 vaccine available in the US announced that its shot is on track for full approval from the US Food and Drug Administration (FDA). It is an important development for the company. It has sent its stock soaring up to 21% on Wednesday morning for trading. It is said that this will also ease the fears of political interference that may have caused delay in the process.

Vaccine For Emergency Use Only

While the other mRNA vaccines from Pfizer and Moderna have received full FDA approval for specific age groups, Novovax's vaccine still awaits the approval. It is only authorized for emergency use.

The emergency use authorization or the EUA allows vaccines to be distributed during public health emergencies. However, once the emergency ends, the FDA can remove them from the market unless full approval is granted.

Why Did The Delay Happen?

The FDA originally planned to approve Novovax's vaccine by April 1. However, as per the inside sources, the process was paused at the direction of Dr Sara Brenner, the FDA's acting commissioner. The delay has also raised concerns, especially after Dr Peter Marks, the FDA's longtime vaccine chief, reportedly left his post due to disagreements with the Health Secretary Robert F Kennedy Jr, who is a known vaccine skeptic.

What Makes Him A Vaccine Skeptic?

In the past, RFK Jr. has worked closely with many anti-vaccine activists who work for his nonprofit group Children's Health Defense. While in his recent speech, he said that he has "never been anti-vax and have never told the public to avoid vaccination", his track record shows otherwise.

In a podcast interview, he said, "There is no vaccine that is safe and effective" and told FOX News that he still believes in the now long-debunked idea that vaccines can cause autism. In another 2021 podcast, he urged people to "resist" CDC guidelines on getting their kids vaccinated. "I see somebody on a hiking trail carrying a little baby and I say to him, better not get them vaccinated," he said.

His non-profit also led an anti-vax campaign sticker and he appeared next on the screen to a sticker that read: "If you are not an anti-vaxxer you are not paying attention," reports AP.

What Does The Vaccine Need For Approval?

The FDA recently asked Novavax to outline a plan to collect additional clinical data from people who have received the vaccine. Novavax says it is “engaging with the FDA expeditiously” and hopes to secure full approval as soon as possible. Full FDA approval is considered the gold standard, as it reflects a higher level of scrutiny and confidence in a product’s safety and effectiveness.

How Is This Vaccine Different From Others?

The COVID-19 vaccines that are currently available in the US teach the immune system to recognize the virus' spike protein, which is its outer coating. the Pfizer and Moderna's mRNA vaccine deliver genetic instructions that help the body create a temporary version of spike protein that trigger an immune response. In contrast, the Novovax's shot contains lab-grown copies of the spike protein itself, which are then combined with a substance that boosts the immune response.

This traditional approach—called a protein-based vaccine—has been used for decades in vaccines for diseases like hepatitis B and shingles. For people who are hesitant about mRNA vaccines, Novavax offers an alternative that uses a well-established method.

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