Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
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Researchers studied over 100 noctilionoid bat species, finding that different dietary types drove modifications in tooth number, size, shape, and position. For instance, fruit-eating bats have shorter jaws with reduced middle premolars, while nectar-feeders have longer jaws with room for more teeth.
Researchers highlight the need for effective treatment strategies for adenoid cystic carcinoma (ACC) of the head and neck, which is a highly malignant tumor with variable localizations. Proton therapy shows decisive advantages in long-term survival rates for ACC.
A recent study has revealed how genetic and environmental factors interact to cause cleft lip or palate in a developing fetus. The research found that mutations in the e-cadherin gene combined with exposure to inflammatory risk factors during pregnancy can lead to cleft lip, which affects one in 700 live births.
A new analysis of 50,450 pediatric cleft or craniofacial surgery cases found that cleft procedures were rated as having an average efficiency roughly half that of the most-efficient procedures. The study concludes that the current RVU allocation system undervalues cleft surgical services relative to craniofacial procedures.
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Researchers found that the oral plug, a structure in fin whales, blocks the pharynx and prevents water from entering during lunge feeding. This allows the whale to swallow prey while keeping the respiratory tract protected.
Researchers discovered three phases of growth that explain how cetaceans shift their nasal passage from a parallel to an angled orientation. This finding provides insight into the developmental process and could inform our understanding of cetacean evolution.
YiPing Chen, a renowned developmental biologist, has made significant contributions to the understanding of genetic control and molecular regulation of mammalian organ development. He is recognized for his work on genetic regulation of tooth development and cleft palate, which have improved our knowledge of craniofacial biology.
A comprehensive genetic study led by the University of Bonn has identified 45 new regions in the human genome associated with an increased risk of cleft lip and palate. These regions are linked to variations in DNA sequences that regulate gene activity, disrupting normal facial development.
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A new study by Texas A&M University researchers determines the minimum size of electrical currents needed to provide sensation in different parts of the mouth. They developed an equivalent circuit of the intraoral cavity and plan to investigate how electrical stimulation affects chewing and swallowing behaviors.
A fossil study reconstructs the avian palate of Sapeornis chaoyangensis, shedding light on cranial kinesis. The research suggests that cranial kinesis may have facilitated the diversification and evolutionary success of Neognathae lineage.
A study of 50 children with cleft lip and/or palate found that internationally adopted children exhibited more speech difficulties at age five. The delay in surgical interventions may be a contributing factor, as well as potential complications such as palatal fistulas and hearing loss.
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Research at Max Planck Institute for Psycholinguistics found that slight variations in vocal tract anatomy impact vowel pronunciation, while cultural transmission amplifies these differences. This study sheds light on individual variation in speech and its role in shaping languages.
Researchers have identified over 100 new genes that could contribute to the development of cleft lip and palate (CL/P), a condition affecting 1 in 700 live-born babies. The study suggests that genetic variants near these genes are regulated by 'enhancers' in the genome, which play a crucial role in maintaining proper cell identity.
Researchers have discovered that salamanders, like the Italian Crested Newt, chew their prey using their palatal teeth, breaking it up with a rhythmic motion. This unique chewing mechanism is similar to that found in ancient mammals and may date back to the early days of land-based vertebrates.
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An international team of researchers has identified IRF6 gene mutations as a cause of neural tube defects, including spina bifida. The study found that alterations in the IRF6 gene can disrupt the development of the neural tube and lead to structural birth defects.
Researchers discovered how the brain encodes speech production, finding that it controls both goals (speech sounds) and individual movements (lip, tongue, and larynx movements). This breakthrough aims to develop better brain machine interfaces to decode speech for paralyzed individuals.
A genome-wide association study identified novel risk loci for non-syndromic orofacial clefts in an African population, refining the genetic architecture of the condition. The study also revealed new genetic associations with cleft lip and palate sub-phenotypes.
A new study explores the mouth of ancient crocodilians, shedding light on their evolution and behavior. The discovery of a closed secondary palate in early shartegosuchids, a group thought to be extinct, has significant implications for understanding the purpose of this feature in modern crocodiles.
Australian researchers have made a surprise discovery that many organs and tissues do not require apoptosis to develop normally, suggesting a link between abnormalities in cell death processes and common birth defects. The study also identified the pro-death protein BOK and its role in apoptosis.
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A study published by the American Academy of Neurology found that women taking topiramate during the first trimester had a three times greater risk of giving birth to a baby with cleft lip or palate. The risk was higher for those taking high doses of the drug, and was comparable to lamotrigine.
A Michigan State University study found that people fit into specific 'vinotypes' based on their food and beverage preferences. The researchers recommend that servers and sommeliers consider these preferences when suggesting a wine. By trusting their own palate, consumers can make informed choices about wine pairings.
A team of paleontologists at the University of Toronto discovered that ancient amphibians had a vast array of tiny teeth, called denticles, on the roofs of their mouths. These toothy plates were ideal for holding onto prey and may have facilitated swallowing prey via eyeball retraction, similar to modern amphibians.
Researchers at University of Utah Health discovered a molecular pathway responsible for cleft palate formation and identified a new treatment to reverse this defect in mouse pups in-utero. The Wnt-based treatment restored palate fusion in all tested pups without adverse health effects.
Researchers investigate how genetic genes IRF6 and SPRY4 interact during fetal development to form the palate. Studies reveal that these two genes interact to reduce adhesion of the oral surface to the tongue, leading to cleft palate formation. The study aims to better understand this interaction to address defects in palate creation.
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A team of USC researchers has identified the intraflagellar transport 88 (IFT88) gene as a potential cause of human cleft lip and palate. The study found that three siblings born with the condition shared a common gene mutation, which was also present in mouse models.
A study has identified mutations in the HYAL2 gene as responsible for cleft lip and cleft palate defects, which slows hyaluronan turnover, impacting development of the hard palate and other body parts. This finding highlights a new molecular cause for orofacial clefting and may contribute to the development of new treatments.
A study in Vietnam reveals that patients rely on charitable care outside the centralized healthcare system, leading to delayed treatment. The survey found that 83% of families had their surgery performed by a charitable organization, highlighting the need for improved access to surgical care in resource-poor countries.
A study published in Journal of Anatomy found a connection between certain bat species and humans with cleft lip and palate. Researchers used anatomical dissection, micro CT scans, and genomic analysis to identify the genetic causes of clefts.
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The study estimates that there are over 72,000 cases of unrepaired cleft lip and/or palate in India, with rates ranging from less than 3.5 per 100,000 population in Kerala and Goa to 10.9 per 100,000 population in Bihar.
A new study published in Neurology found that babies born to mothers taking the epilepsy drug lamotrigine may not be at an increased risk of birth defects such as cleft lip and clubfoot. The study, which analyzed over 10 million births, estimated the excess risk of these defects to be less than one in every 550 babies.
Researchers have identified a key gene associated with cleft lip and palate, providing a step closer to understanding the condition's causes and developing effective prevention approaches. The discovery highlights the complex interplay between genes and environmental factors in shaping fetal development.
Researchers explore small molecule replacement therapy to rescue craniofacial defects by manipulating Wnt and Eda/Edar signaling pathways. The study provides novel candidates for therapeutic treatment of patients with craniofacial defects.
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High-arched palate is under-researched, but researchers developed a reliable technique using a mouse model of Treacher Collins syndrome to study its genetic aspects. The study found that TCS mice exhibited high-arched palates and provided significant criteria for defining the condition.
A study found that patients treated with nasoalveolar molding required fewer surgeries and had reduced healthcare costs compared to those without NAM treatment. This technique, which molds the lip, nose, and gums before surgery, improves outcomes and reduces complications.
A UTHealth study found that children born with cleft lip or palate and spina bifida are at higher risk of maltreatment before age 2, with increased risks of 40% and 58% respectively. Medical complexity may contribute to this increased risk.
A recent study led by Enno Klußmann and Veronika Anita Deák discovered that the GSKIP protein plays a crucial role in embryonic development, with implications for understanding Goldenhar syndrome. The research found a high degree of correlation between mouse and human genes responsible for the condition.
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Researchers discovered the soft palate plays a key site for flu virus emergence and transmission, binding preferentially to mammalian-type SA, which is associated with airborne transmission. The finding may aid efforts to define properties governing flu virus transmissibility and predict pandemic potential.
Researchers discovered that flu viruses gain ability to spread through air by adapting to bind to specific human receptors, with the soft palate playing a key role in this process. The findings provide insight into how flu viruses evolve airborne transmissibility and can help identify viruses with potential to cause global outbreaks.
Researchers have identified a mutation in the ADAMTS20 gene as being associated with cleft lip and cleft palate in both humans and dogs. This discovery has potential implications for understanding and treating these birth defects, which can affect varying degrees of severity in affected individuals.
A team led by Drs. Mary L. Marazita and Seth M. Weinberg will recruit 6,100 individuals for genetic studies to identify genetic susceptibility for cleft lip and palate in low-risk populations in Nigeria, the Philippines, and Colombia, as well as mid-risk populations in Pittsburgh and Lancaster.
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Researchers have identified a specific DNA stretch controlling genes that determine face structure and those producing building materials. The region's regulatory elements affect gene Myc activity, leading to facial changes and increased susceptibility to environmental factors like smoking during pregnancy.
A recent study from Washington State University challenges conventional wisdom on wine flavor finish. Researchers found that fruity flavors disappear from the palate earlier than oaky, floral, and earth flavors perception. This discovery sheds new light on the complex relationship between taste, aroma, and flavor in wine.
UC Davis researchers have identified a genetic mutation responsible for cleft palate in Nova Scotia Duck Tolling Retrievers, providing a new model for studying the craniofacial defect. This discovery may lead to a better understanding of cleft palate in humans and its associated complications.
Researchers from Penn and CHOP confirmed a genetic link between missing DNA on the X chromosome and birth defects such as epilepsy, cleft palate, and respiratory failure. The study provides a mouse model to investigate the underlying molecular mechanism of these conditions and potentially identify genes responsible.
Researchers at Karolinska Institutet have identified a new gene, GRHL3, responsible for the most common form of cleft lip and palate syndrome, Van der Woude syndrome. The study found that mutations in GRHL3 may be associated with an increased risk of clefts in non-syndromic cases.
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Children born with cleft lip and/or palate face significant medical complications, including respiratory, feeding, speech, and hearing difficulties. A multidisciplinary approach is crucial in managing these patients.
A study published in Experimental Biology and Medicine revealed that PRDM16 is essential for the normal development of the embryonic palate. The gene was found to regulate over 100 genes involved in diverse processes such as chromatin remodeling and muscle/bone development.
A study of 73 patients with isolated cleft palates found a higher risk of velopharyngeal insufficiency, characterized by hypernasal speech, after wider cleft palate repairs. The condition affects up to 32% of patients, particularly those with cleft widths over 10mm.
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Researchers at USC have discovered an abnormal amount of Transforming Growth Factor Beta (TGF-β) outside cells, which may indicate Loeys-Dietz syndrome. This finding could enable rapid diagnosis and treatment of the life-threatening birth defect.
Youssef Kousa, a fifth-year osteopathic student, has been awarded the prestigious Ruth L. Kirschstein National Research Service Award for his work on identifying causes of cleft palate. He will use this fellowship to study gene mutations and develop interventions to prevent birth defects.
Researchers have developed a mouse model that can correct cleft lips, opening up possibilities for prevention and treatment of the condition. The study identified key genes and signaling pathways involved in facial development, including Wnt activity.
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A new Stanford University study found that the overall quality of a pregnant woman's diet is linked to a lower risk of two types of serious birth defects. Women who ate better before and during pregnancy had fewer infants with brain and spinal cord malformations or orofacial clefts, such as cleft lip and palate.
Researchers at Mount Sinai School of Medicine have discovered a new mechanism behind craniofrontonasal syndrome (CFNS) and cleft palate. A mutation in the ephrin-B1 gene causes cell proliferation anomalies, leading to facial malformations.
A new device developed at the Weizmann Institute uses sniffing technology to enable communication and wheelchair steering for severely disabled individuals. The device was tested on healthy volunteers and quadriplegics, showing promising results in mastering the skill, which can also be used as a 'third hand' for surgeons and pilots.
A study published in Nature Genetics has identified four genes, including MAFB and ABCA4, linked to cleft lip and/or cleft palate. The genome-wide association study involved 1,900 families from diverse ancestry groups, revealing new insights into the causes of this congenital malformation.
Researchers found that folic acid promotes nerve cell regeneration in injured rodents through a molecular pathway. Additionally, two separate studies identified distinct roles for proteins PLA2s in male fertility and sperm function, suggesting potential targets for new contraceptive agents and treatments for infertility.
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Researchers at Washington University School of Medicine found that a growth factor gene plays a critical role in palate development, suggesting a new target for preventing and treating cleft palate. The study's findings could lead to the development of drugs that activate or inhibit the gene to ensure normal palate growth.
Researchers at USC School of Dentistry have successfully reversed a cleft palate in fetal mice by regulating signaling molecules. The study's findings suggest that close monitoring and regulation of the protein Shh during palate formation may one day allow for non-surgical reversal before birth.
The NIDCR launched the FaceBase Consortium to systematically compile biological instructions for constructing the middle region of the human face and define genetics underlying developmental disorders. A comprehensive database will be created to enable scientists to mine information and accelerate research.