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Deep learning-based splice-AI can help predict the onset of Alzheimer's disease

Deep learning-based splice-AI can help predict the onset of Alzheimer s disease
Korea Brain Research Institute (KBRI, President Suh Pann-ghill) announced that the research team led by Dr. Jae-Yeol Joo discovered new cryptic splice variants and SNVs in PLCg1 gene of AD-specific models for the first time using Splice-AI.
This research outcome was published in
PNAS, a world-renowned academic journal.
Prediction of Alzheimer s Disease-Specific phospholipase c gamma-1 SNV by Deep Learning-Based Approach for High-Throughput Screening
Alternative splicing variant regulates gene expression and influences diverse phenotypes. Especially, genetic variants arising due to RNA splicing are frequently found in individuals having neurodevelopmental disorders. ....

South Korea , Suh Pann Ghill , Jae Yeol Joo , Emily Henderson , Korea Brain Research Institute , Brain Research Institute , President Suh Pann Ghill , Deep Learning Based Approach , Fourth Industrial Revolution , Alzheimer 39s Disease , Deep Learning , Amino Acid , Corona Virus , Gene Expression , High Throughput Screening , Phospholipase C , தெற்கு கொரியா , எமிலி ஹென்டர்சன் , கொரியா மூளை ஆராய்ச்சி நிறுவனம் , மூளை ஆராய்ச்சி நிறுவனம் , ஆழமான கற்றல் அடிப்படையிலானது அணுகுமுறை , நான்காவது தொழில்துறை புரட்சி , ஆழமான கற்றல் , அமினோ அமிலம் , கொரோனா வைரஸ் , கீந் வெளிப்பாடு ,

Diverse patient population helps identify gene variant associated with childhood asthma

Diverse patient population helps identify gene variant associated with childhood asthma
Researchers at Henry Ford Health System, as part of a national asthma collaborative, have identified a gene variant associated with childhood asthma that underscores the importance of including diverse patient populations in research studies.
The study is published in the print version of the
American Journal of Respiratory and Critical Care Medicine.
For 14 years researchers have known that a casual variant for early onset asthma resides on chromosome 17, which holds one of the most highly replicated and significant genetic associations with asthma. Henry Ford researchers acknowledged they would not have identified it in this study without a diverse patient population that included African Americans, many from the metro Detroit area. ....

United States , Hakon Hakonarson , Esteban Burchard , L Keoki Williams , Henry Ford , Emily Henderson , National Center , National Heart Lung , Genomic Medicine Research , Harvard Medical School , Blood Institute Trans , Henry Ford Health System , University Of California San Francisco , Researchers At Henry Ford Health System , Health Statistics , American Journal , Critical Care , African American , Keoki Williams , Study Senior Author , Henry Ford Health , Henry Ford Led , California San Francisco , Asthma Translational Genomics Collaborative , Blood Institute , Precision Medicine ,

FDA approves Nulibry to reduce risk of death caused by rare genetic, metabolic disorder

Today, the U.S. Food and Drug Administration approved Nulibry (fosdenopterin) for injection to reduce the risk of death due to Molybdenum Cofactor Deficiency Type A, a rare, genetic, metabolic disorder that typically presents in the first few days of life, causing intractable seizures, brain injury and death. ....

Hyltonv Joffe , Emily Henderson , Us Department Of Health , Human Services , Drug Administration , Office Of Rare Diseases , Nulibry To Origin Biosciences Inc , Molybdenum Cofactor Deficiency Type , Rare Diseases , Reproductive Medicine , Drug Evaluation , Priority Review , Breakthrough Therapy , Orphan Drug , Rare Pediatric Disease Priority Review Voucher , Origin Biosciences , எமிலி ஹென்டர்சன் , எங்களுக்கு துறை ஆஃப் ஆரோக்கியம் , மனிதன் சேவைகள் , அலுவலகம் ஆஃப் ரேர் நோய்கள் , ரேர் நோய்கள் , இனப்பெருக்கம் மருந்து , மருந்து மதிப்பீடு , ப்ரையாரிடீ விமர்சனம் , திருப்புமுனை சிகிச்சை , ஆர்ஃபந் மருந்து ,

Critical Path Institute and global partners establish Ataxia Consortium

Critical Path Institute and global partners establish Ataxia Consortium
Critical Path Institute (C-Path) today announced the launch of the Critical Path to Therapeutics for the Ataxias (CPTA) Consortium, a public-private partnership focused on optimizing clinical trials for inherited ataxias.
CPTA is a collaborative effort between C-Path, Ataxia Global Initiative, the National Ataxia Foundation, Ataxia UK and key partners in the industry and academic research communities, including Biohaven Pharmaceuticals, Ionis Pharmaceuticals, Roche Pharmaceuticals, Servier Group, Triplet Therapeutics, uniQure, and Vico Therapeutics.
CPTA s mission is to bring together experts from across different fields of ataxia research, advocacy and medical product development to create regulatory tools and strategies that will catalyze the development of therapeutics for the ataxias, said Jane Larkindale, D.Phil., Executive Director of the Rare Disease Cures Accelerator-Data and Analytics Pl ....

United Kingdom , Jane Larkindale , Klaus Romero , Emily Henderson , Critical Path Institute , Biohaven Pharmaceuticals , Ataxia Global Initiative , National Ataxia Foundation , Roche Pharmaceuticals , Ionis Pharmaceuticals , Servier Group , Path Institute , Critical Path , Ataxia United Kingdom , Triplet Therapeutics , Executive Director , Rare Disease Cures Accelerator Data , Analytics Platform , ஒன்றுபட்டது கிஂக்டம் , கிளாஸ் ரொமெரோ , எமிலி ஹென்டர்சன் , முக்கியமான பாதை நிறுவனம் , அட்டாக்ஸியா உலகளாவிய முயற்சி , தேசிய அட்டாக்ஸியா அடித்தளம் , ரோச் மருந்துகள் , பாதை நிறுவனம் ,

Combination of deep brain stimulation and exercise has potential benefits for treating ataxia

Combination of deep brain stimulation and exercise has potential benefits for treating ataxia
New research from Baylor College of Medicine scientists shows that a combination of deep brain stimulation (DBS) and exercise has potential benefits for treating ataxia, a rare genetic neurodegenerative disease characterized by progressive irreversible problems with movement.
Working with a mouse model of the human condition, researchers at Baylor and the Jan and Dan Duncan Neurological Research Institute at Texas Children s Hospital discovered that combining DBS targeted to the cerebellum, a major motor center in the brain, and exercise rescued limb coordination and stepping and that the benefits persisted without further stimulation. ....

Roy Sillitoe , Lauren Miterko , Emily Henderson , Nature Communications , Baylor College Of Medicine , Baylor College , Dan Duncan Neurological Research Institute , Texas Children , Study First Author , Graduate Student , Neuropathology Core , Brain Stimulation , Deep Brain Stimulation , Mouse Model , Neurodegenerative Disease , Parkinson 39s Disease , எமிலி ஹென்டர்சன் , இயற்கை தகவல்தொடர்புகள் , பேலர் கல்லூரி ஆஃப் மருந்து , பேலர் கல்லூரி , டான் டங்கன் நரம்பியல் ஆராய்ச்சி நிறுவனம் , டெக்சாஸ் குழந்தைகள் , படிப்பு முதல் நூலாசிரியர் , பட்டதாரி மாணவர் , மூளை ஸ்டிம்யுலேஶந் , ஆழமான மூளை ஸ்டிம்யுலேஶந் ,