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Mashup Score: 0Genetics in Medicine - 2 year(s) ago
Monotherapy radically improves pediatric PIK3CA-associated head and neck overgrowth conditionsHead and neck overgrowth conditions can cause life-threatening complications. Overgrown tissues in this region of the body can compress or narrow the airway leading to respiratory distress, sleep apnea, and even death. Complications involving the tongue, mouth, ears, and bones of the face and skull also…
Source: www.gimjournal.orgCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 9The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 - 2 year(s) ago
Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influences microtubule dynamics, are associated with earlier onset and more severe disease than truncating variants, but even within the early and late-onset groups there remained significant…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
A rare example of a #geneticmodifier! Read Parodi et al’s recent work on overexpression of mitochondrial SARS2 as a #geneticmodifier of spastic paraplegia type 4 to learn more #HSP #SPG4 https://t.co/pNVsQ3BHMD https://t.co/80bfouameA
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Mashup Score: 13Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation - 2 year(s) ago
To craft evidence-based educational approaches related to polygenic risk score (PRS) implementation, it is crucial to forecast issues and biases that may arise when PRS are introduced in clinical care.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
How can we promote equitable & appropriate use of #PRS in clinical settings? Educational interventions need to address health equity, racial identity, genetic ancestry & clinical utility @iamsusanpersky @bmhollister @vencebonham #precisionmedicine #MedEd https://t.co/tWOvnUHgvt https://t.co/X7I7befpnf
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Mashup Score: 0
Effective approaches to communicate genomic information are needed to ensure equitable care. In a randomized controlled superiority trial, we tested a novel practice model that aims to make genetic counseling inclusive, by making the communication accessible, relational, and actionable (ARIA).
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
How does the ARIA (accessible, relational, inclusive, & actionable) model of #geneticcounseling compare to usual care genetic counseling in results disclosures? Read the results of a controlled trial here https://t.co/u8umuMU41z #GCchat @GalenJoseph1 https://t.co/yIke6iXbr1
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Mashup Score: 12
Genetic testing is ubiquitous in the field of medicine and is often ordered or requested by primary care providers, nongenetics subspecialists, and patients themselves. Other studies have shown that providers are often not comfortable ordering genetic testing. There have been initiatives to teach these concepts via continuing medical education; however, there is not a standardized training…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
Is genetics education lagging behind the implementation of genetic technology in clinical practice? #Pediatric residents reported lack of knowledge and confidence in discussing genetics topics with patients. # #medicalgeneticseducation #acgme @ryangatesmd https://t.co/keZLj5nZeM https://t.co/H44gJq5HTy
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Mashup Score: 4
The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
Novel truncating variant in MED11 leads to severe neurodevelopmental impairment and widespread neurodegeneration in 7 unrelated individuals. #neurodegeneration, #transcription, #humanmediatorcomplex https://t.co/eNRok4xyof https://t.co/38A7LlZqaK
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Mashup Score: 0Genetics in Medicine - 2 year(s) ago
If you don’t remember your password, you can reset it by entering your email address and clicking the Reset Password button. You will then receive an email that contains a secure link for resetting your passwordIf the address matches a valid account an email will be sent to __email__ with instructions for resetting your password …
Source: www.gimjournal.orgCategories: Genetics, Latest HeadlinesTweet-
#CysticFibrosis DOES occur in Asians; the assumption that CF is extremely rare in Asians has fostered inequities in screening, diagnosis, and treatment. On this month’s GenePod, the study's authors discuss their findings @svaidy2 @CFmdphd https://t.co/gxc3LdgpVX. https://t.co/g8nADIUSZK
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Mashup Score: 0Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy - 2 year(s) ago
Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results from cohort-based burden analyses.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
UCHL1 #haploinsufficiency causes an #autosomaldominant #neurologic disorder with #spasticity, #ataxia, #polyneuropathy, and #opticatrophy @Val3Cipriani https://t.co/Zje9LqziRH https://t.co/vBPBr4f4QC
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Mashup Score: 4
Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recognizable disorder has been associated with MYH10. We sought to define the clinical characteristics and molecular mechanism of a novel autosomal dominant…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
A novel #autosomaldominant syndrome with #neurodevelopmental disability and #congenitalmalformations caused by heterozygous MYH10 variants https://t.co/O8Tofk8I0u https://t.co/ornaC51qrr
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Mashup Score: 2Genetics in Medicine - 2 year(s) ago
New AI identifies monogenic disease patient cohorts from clinical notesIdentifying patients to build a cohort is laborious and time-consuming. Yet, patient cohorts help to put evidence-based medicine into practice and improve diagnosis and clinical care, especially in regard to monogenic diseases. To make finding molecularly confirmed monogenic disease patients for cohort-building more efficient,…
Source: www.gimjournal.orgCategories: Genetics, Latest HeadlinesTweet-
MonoMiner identifies a cohort of monogenic disease patients with a #MolecularTesting diagnosis from#electronichealthrecords, empowering numerous downstream uses #editorschoice https://t.co/nRn0gZ1X6G https://t.co/QYWfbDF6i3
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Is PI3K inhibitor alpelisib effective in treating PIK3CA-related head & neck lymphatic malformations (HNLMs)? Wenger et al. describe the effect of treatment in 5 children #PrecisionMedicine #EditorsChoice https://t.co/pfGlaPxbps https://t.co/NpJlfntsdC