22nd April  2025: Redcliffe Labs, a purpose-driven pan-India omnichannel diagnostics service provider, has diagnosed the first known case of DPH2–related diphthamide deficiency syndrome–2 in India. This groundbreaking diagnosis has been published in the prestigious Wiley American Journal of Medical Genetics Part A, marking a significant milestone in the field of medical genetics and broadening the clinical understanding of this rare genetic condition. The diagnosis was carried out by Dr. Vykunta Raju K. N from Indira Gandhi Hospital, Bangalore, and Interpretation was done by Dr Himani Pandey, Lab Head of Genomics at Redcliffe Labs, and her team in collaboration with experts from leading medical institutions.

Identifying the DPH2 gene mutation enables healthcare providers to consider genetic counselling for families with a history of consanguinity. Early detection of this rare genetic disorder can facilitate timely intervention and management, potentially improving the quality of life for affected individuals. The ability to detect such mutations also aids in formulating more targeted and precise therapeutic strategies. 

As per the diagnosis, the patient is a 1-year-9-month-old female who presented with a complex set of symptoms, including developmental delay, short stature, seizures, sparse hypopigmented hair, and dysmorphic facial features. Uniquely, the child also exhibited epileptic seizures, behavioural abnormalities, and neuroimaging findings such as cerebral atrophy and white matter hyperintensities – features not previously reported in other cases of this syndrome. The clinical picture also included developmental regression, autistic features, and hypotonia, making it a distinct and complex presentation.

The diagnosis was confirmed through whole-exome sequencing, which revealed a pathogenic nonsense variant in the DPH2 gene. This mutation truncates the DPH2 protein’s C-terminal, likely impacting its role in protein synthesis. According to the American College of Medical Genetics and Genomics (ACMG) standards, the identified variant has been classified as pathogenic. This is the first confirmed case of this syndrome in India and only the third reported case worldwide.

The patient exhibited delayed developmental milestones, including late attainment of neck control and the ability to sit with support, along with poor weight gain and feeding difficulties. Multiple episodes of generalized tonic seizures and epileptic spasms were documented, beginning at six months of age. Neuroimaging revealed cerebral atrophy, periventricular white matter hyperintensities, and prominent subarachnoid spaces, indicating significant neurological involvement. Additionally, the child showed distinct dysmorphic features such as a broad forehead with a high anterior hairline, sparse scalp hair, esotropia, a depressed nasal bridge, a bulbous nose, low-set ears, and brachydactyly in both hands and feet. This diagnosis holds immense significance for the medical community as it opens new avenues for preventive healthcare and prenatal diagnosis.

Dr. Himani Pandey, Lab Head Genomics of Redcliffe Labs said ,”This case exemplifies how integrative genomic approaches can elucidate the underlying molecular etiology of rare and clinically complex syndromes. Identifying a pathogenic DPH2 variant in an Indian patient not only contributes to the global repository of rare disease mutations but also enables more precise genotype-phenotype correlation. Such discoveries are vital to advancing personalized medicine, particularly in populations with high rates of consanguinity where recessive disorders often go undiagnosed.”

This discovery not only expands the known phenotypic spectrum of DPH2–related diphthamide deficiency syndrome–2 but also emphasizes the importance of including DPH2 mutations in diagnostic panels when evaluating developmental delays and epilepsy, particularly in populations with consanguineous backgrounds. Identifying this gene variant also paves the way for targeted research into the role of DPH2 in protein synthesis, potentially aiding in the development of therapeutic interventions.

Aditya, CEO & Founder of Redcliffe Labs, said,  “This diagnosis reflects our commitment to leveraging advanced genomic technologies to uncover rare and complex genetic disorders. Identifying the DPH2–related diphthamide deficiency syndrome–2 in India not only highlights the capabilities of our team but also sets a precedent for integrating precision genetics into routine diagnostics. Our focus remains on making genetic insights accessible and impactful for patient care.”

Redcliffe Labs remains committed to pioneering advancements in genetic diagnostics and fostering research collaborations to improve patient outcomes. As a leading diagnostic and molecular genetics laboratory in India, they continue to deliver innovative healthcare solutions to address complex medical challenges.

Dr. Boppana Sai Madhuri, Consultant, Medical Oncologist, HCG Cancer Center – Vijayawada

As we go about our daily lives, it’s easy to overlook the air we breathe indoors. However, the truth is that indoor air quality plays a significant role in our overall health, particularly when it comes to cancer risk.

The Indoor Air Pollution Problem

Indoor air pollution is a pervasive issue that affects millions of people worldwide. The air inside our homes, offices, and other buildings can be up to five times more polluted than the air outside. This is due to the presence of various pollutants, including volatile organic compounds (VOCs), particulate matter (PM), and radon. These pollutants can emanate from a range of sources, including building materials, furniture, household cleaning products, and heating systems.

The Link to Cancer Risk

Exposure to indoor air pollutants has been linked to an increased risk of cancer. The International Agency for Research on Cancer (IARC) has classified some indoor air pollutants, such as radon and PM, as carcinogenic to humans. Radon, a radioactive gas that can seep into buildings from the soil, is a known cause of lung cancer. Similarly, exposure to PM, which can come from sources like cooking and heating, has been linked to an increased risk of lung cancer and other respiratory diseases.

Other Indoor Air Pollutants and Cancer Risk

In addition to radon and PM, other indoor air pollutants have also been linked to cancer risk. For example, VOCs, which can be emitted by building materials, furniture, and household cleaning products, have been shown to cause cancer in animals. Similarly, exposure to secondhand smoke, which can linger in indoor air, has been linked to an increased risk of lung cancer and other respiratory diseases.

Reducing Cancer Risk through Improved Indoor Air Quality

While the link between indoor air quality and cancer risk is alarming, there are steps we can take to reduce our exposure to indoor air pollutants. Here are some strategies for improving indoor air quality:

• Use ventilation systems : Installing ventilation systems that exchange indoor air with fresh outdoor air can help reduce pollutant levels.
• Remove sources of pollution : Identify and remove sources of pollution, such as radon and secondhand smoke.
• Use air purifiers : Air purifiers can help remove pollutants from the air.
• Choose low-VOC products : Opt for building materials, furniture, and household cleaning products that emit low levels of VOCs.

The impact of indoor air quality on cancer risk is a serious concern that deserves our attention. By understanding the sources of indoor air pollution and taking steps to reduce our exposure, we can mitigate this hidden danger and create healthier indoor environments. The air we breathe indoors matters, and it’s up to us to take action to protect our health.

Dr. Neelam Banerjee, Senior Consultant and Head of Department – IVF, Yatharth Hospital, Greater Noida

In today’s world, more women are choosing to have children later in life. Whether it’s due to career priorities, financial planning, late marriages, or personal reasons, the average age of starting a family is steadily rising, especially in urban India. But as the age increases, so do the concerns about fertility. One of the most common questions women over 35 ask is: “Will IVF work for me?” Unfortunately, this question is often surrounded by confusion, myths, and fear.

Understanding IVF and Age

After 30, the number and quality of a woman’s eggs start to reduce, and the drop becomes more noticeable after 35. By the time a woman crosses 40, natural conception becomes significantly more difficult. This is where assisted reproductive technologies like IVF (In-Vitro Fertilization) become relevant.

But here’s the good news, IVF can still be highly successful in women over 35. With the right medical care and timely intervention, thousands of Indian women in their late 30s and early 40s have gone on to have healthy pregnancies and babies through IVF.

Busting the Myths

Many people believe IVF doesn’t work after 35, but that’s simply not true. While it’s a fact that success rates are higher for younger women, many women in their late 30s and even 40s have conceived successfully with IVF. The outcome depends on several factors like the woman’s egg reserve, hormone levels, overall health, and the experience of the fertility clinic. Starting the process early and following medical guidance can make a big difference.

Another common myth is that women over 35 always need donor eggs. While donor eggs can be an option for women with very low egg quality, it’s not the rule. Many women in this age group are still able to conceive using their own eggs. Tests like AMH and ultrasound help doctors evaluate the chances and suggest the right path forward.

It’s also important to understand that IVF is not a magic solution. It increases your chances of getting pregnant but does not guarantee a baby. Sometimes, it takes more than one cycle to succeed. Success depends on many things – the woman’s age, the health of the sperm, how well the embryo develops, and the condition of the uterus. Thankfully, advances in IVF technology have helped improve success rates, especially for older women.

IVF in India

India has seen a sharp rise in the number of couples seeking IVF treatment in the past decade. A study by the Indian Society of Assisted Reproduction, shows that over 25% of IVF patients are now above the age of 35, with urban areas seeing higher demand. The awareness is slowly increasing, but more needs to be done to educate women that fertility is not something to be taken for granted.

Taking the Right Steps

If you are over 35 and trying to conceive for more than 6–12 months without success, don’t delay seeking help. A simple fertility workup, including AMH test, ultrasound, and hormone levels can give a clear picture of where you stand.

IVF after 35 is not a dead-end, it’s a carefully managed medical path that has helped countless women become mothers. While age is a factor, it is not the only one. With growing awareness, access to better medical care, and open conversations, more women can make informed choices about their fertility.

Newswise — COLUMBUS, Ohio – A new smart insole system that monitors how people walk in real time could help users improve posture and provide early warnings for conditions from plantar fasciitis to Parkinson’s disease.

Constructed using 22 small pressure sensors and fueled by small solar panels on the tops of shoes, the system offers real-time health tracking based on how a person walks, a biomechanical process that is as unique as a human fingerprint. 

This complex personal health data can then be transmitted via Bluetooth to a smartphone for quick and detailed analysis, said Jinghua Li, co-author of the study and an assistant professor of materials science and engineering at The Ohio State University. 

“Our bodies carry lots of useful information that we’re not even aware of,” said Li. “These statuses also change over time, so it’s our goal to use electronics to extract and decode those signals to encourage better self health care checks.”

It’s estimated that at least 7% of Americans suffer from ambulatory difficulties, activities that include walking, running or climbing stairs. While efforts to manufacture a wearable insole-based pressure system have risen in popularity in recent years, many previous prototypes were met with low energy limitations and unstable performances. 

To overcome the challenges of their precursors, Li and Qi Wang, the lead author of the study and a current PhD student in materials science and engineering at Ohio State, sought to ensure that their wearable is durable, has a high degree of precision when collecting and analyzing data, and can provide consistent and reliable power, said Li. 

“Our device is innovative in terms of high resolution, spatial sensing, self-powering capability, and its ability to combine with machine learning algorithms,” she said. “So we feel like this research can go further based on the pioneering successes of this field.”

The study was recently published in the journal Science Advances.

This team’s system is also made unique through its use of AI. Using an advanced machine learning model, the wearable can recognize eight different motion states, including static ones like sitting and standing to more dynamic movements such as running and squatting. 

Additionally, since the materials the insoles are made of are flexible and safe, the device, much like a smartwatch, is low-risk and safe for continuous use. For instance, after the solar cells convert sunlight to energy, that power is stored in tiny lithium batteries that don’t harm the user or affect daily activities.

Because of the distribution of sensors from toe to heel, the researchers could see how the pressure on parts of the foot is different in activities such as walking versus running.  

During walking, pressure is applied sequentially from the heel to the toes, whereas during running, almost all sensors are subjected to pressure simultaneously. In addition, during walking, the pressure application time accounts for about half of the total time, while during running, it accounts for only about a quarter.

In health care, the smart insoles could support gait analysis to detect early abnormalities associated with foot pressure-related conditions (such as diabetic foot ulcers), musculoskeletal disorders (such as plantar fasciitis) and neurological conditions (such as Parkinson’s disease).

The new system also used machine learning to learn and classify different types of motion. That offers opportunities for personalized health management, including real-time posture correction, injury prevention and rehabilitation monitoring. Customized fitness training may also be a future use, the researchers said.

According to the study, these smart insoles showed no notable deterioration in performance after 180,000 cycles of compression and decompression, showing their long-term durability. 

“The interface is flexible and quite thin, so even during repetitive deformation, it can remain functional,” said Li. “The combination of the software and hardware means it isn’t as limited.”

Researchers expect the technology will likely be available commercially within the next three to five years. Next steps to advance the work will be aimed at improving the system’s gesture recognition abilities, which, according to Li, will likely be helped with further testing on more diverse populations. 

“We have so many variations among individuals, so demonstrating and training these fantastic capabilities on different populations is something we need to give further attention to,” said Li.

Computational model reveals details on how certain synaptic proteins organize into unique structures that are vital for learning and memory

Complex protein interactions at synapses are essential for memory formation in our brains, but the mechanisms behind these processes remain poorly understood. Now, researchers from Japan have developed a computational model revealing new insights into the unique droplet-inside-droplet structures that memory-related proteins form at synapses. They discovered that the shape characteristics of a memory-related protein are crucial for the formation of these structures, which could shed light on the nature of various neurological disorders. 

Our brain’s remarkable ability to form and store memories has long fascinated scientists, yet most of the microscopic mechanisms behind memory and learning processes remain a mystery. Recent research points to the importance of biochemical reactions occurring at postsynaptic densities—specialized areas where neurons connect and communicate. These tiny junctions between brain cells are now thought to be crucial sites where proteins need to organize in specific ways to facilitate learning and memory formation. 

More specifically, a 2021 study revealed that memory-related proteins can bind together to form droplet-like structures at postsynaptic densities. What makes these structures particularly intriguing is their unique “droplet-inside-droplet” organization, which scientists believe may be fundamental to how our brains create lasting memories. However, understanding exactly how and why such complex protein arrangements form has remained a significant challenge in neuroscience. 

Against this backdrop, a research team led by Researcher Vikas Pandey from the International Center for Brain Science (ICBS), Fujita Health University, Japan, has developed an innovative computational model that reproduces these intricate protein structures. Their paper, published online in Cell Reports on April 07, 2025, explores the mechanisms behind the formation of multilayered protein condensates. The study was co-authored by Dr. Tomohisa Hosokawa and Dr. Yasunori Hayashi from the Department of Pharmacology, Kyoto University Graduate School of Medicine, and Dr. Hidetoshi Urakubo from ICBS, Fujita Health University. 

The researchers focused on four proteins found at synapses, with special attention to Ca²⁺/calmodulin-dependent protein kinase II (CaMKII)—a protein particularly abundant in postsynaptic densities. Using computational modeling techniques, they simulated how these proteins interact and organize themselves under various conditions. Their model successfully reproduced the formation of the above-mentioned “droplet-inside-droplet” structures observed in earlier experiments. Through simulations and detailed analyses of the physical forces and chemical interactions involved, the research team shed light on a process called liquid-liquid phase separation (LLPS); it involves proteins spontaneously organizing into condensates without membranes that sometimes resemble the organelles found inside cells.

Crucially, the researchers found that the distinctive “droplet-inside-droplet” structure appears as a result of competitive binding between the proteins and is significantly influenced by the shape of CaMKII, specifically its high valency (number of binding sites) and short linker length. These shape-related properties of CaMKII result in low surface tension and slow diffusion, allowing the protein condensates to remain stable for extended periods. This stability enables the sustained activation of downstream signaling pathways necessary for synaptic plasticity, which is the cellular basis for learning and memory. “Our results revealed new structure–function relationships for CaMKII as a synaptic memory unit. This is the first systematic and mechanistic study investigating the divergent structure of protein-regulated multiphase condensates,” highlights Dr. Pandey. 

These findings could pave the way toward a better understanding of the possible mechanisms of memory formation in humans. However, the long-term implications of this research extend well beyond basic neuroscience. 

Defects in synapse formation have been associated with numerous neurological and mental health conditions, including schizophrenia, autism spectrum disorders, Down syndrome, and Rett syndrome. “Overall, the computational model developed in this study could serve as an important platform for investigating these conditions, potentially leading to new diagnostic tools and therapeutic approaches,” explains Dr. Pandey. 

Let us hope scientists continue to unravel the mysteries of how memories form at the molecular level, leading us to a more thorough comprehension of one of the brain’s most fundamental and complex functions.