Podcasts about smn1

Gyzele Brown is a proud native of Greenville, MS, now residing in Cleveland, MS.  She is the owner and operator of Gyzele's Salon and Spa, where she's dedicated to not only transforming looks but also impacting lives through her work.  A graduate of Delta State University and Goshen Cosmetology School, Gyzele's journey began with a background in speech and hearing science — yet her passion for hair and beauty took center stage.  Beyond her career, Gyzele is a proud mother of three amazing children who all have spinal muscular atrophy, a rare genetic disease. Her journey is filled with both challenges and blessings, and she's here to encourage others, remind them of the power of faith, and show that even in tough times, you can keep going for your family and yourself.  Join us as Gyzele shares her inspiring journey, full of hope, and powerful life lessons about strength, faith, and the importance of never giving up. ​Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and wasting due to the degeneration of motor neurons. It's a progressive disease that can be fatal in severe forms. SMA is typically caused by mutations in the SMN1 gene, which is responsible for producing a protein vital for motor neuron health. The severity and age of onset vary, with different types of SMA categorized based on symptom onset and severity.   ​ Key aspects of SMA: Progressive Nature: SMA is a progressive disease, meaning the symptoms worsen over time.  Varied Severity: SMA is classified into types based on the age of onset and severity of symptoms.  Types of SMA: Type 1 (Infantile-onset): Most severe, symptoms appear at birth or within the first six months, and many affected individuals don't survive past early childhood.  Type 2 (Intermediate): Symptoms appear between 6 and 18 months, individuals can sit but not walk unaided, and life expectancy varies.  Type 3 (Juvenile-onset): Symptoms appear later in childhood, individuals can walk but may have difficulty, and life expectancy is generally normal.  Type 4 (Adult-onset): Rare, with symptoms appearing in adulthood and causing mild motor impairment.  Symptoms: Symptoms include muscle weakness, difficulty with movement (sitting, crawling, walking), breathing and swallowing problems, and skeletal abnormalities like scoliosis.  Diagnosis: Diagnosis often involves clinical evaluation, genetic testing, and sometimes neurological examinations.  Treatment: While there is no cure, treatments like gene therapy and medications can help manage symptoms, improve motor function, and increase survival time. Physical therapy, occupational therapy, and assistive devices are also important.  Genetic Basis: SMA is primarily caused by mutations or deletions in the SMN1 gene.  Motor Neuron Degeneration: The disease affects motor neurons, which control muscle movement, leading to muscle weakness and atrophy.   

NAMIJENJENO ISKLJUČIVO ZDRAVSTVENIM DJELATNICIMA. PRISTUPOM PODCASTU POTVRĐUJETE DA STE ZDRAVSTVENI DJELATNIK.PREDAVAČ:Dr. NEDJELJKA ZRNO, dr.med. specijalista pedijatrijesubspecijalista pedijatrijske neurologijeSKB MostarMostar, BiHLINK NA TEČAJ Pristupom na CME aktivnost na Portalu CME.ba imate priliku da na kraju iste uradite završni test, te da dobijete akreditovani CME certifikat.U našem prethodnom tečaju smo revijalno prikazali sadašnja znanja vezana za spinalnu mišićnu atrofiju – bolest koja je uzrokovana defektom gena zvanog SMN1, glavnog gena odgovornog za stvaranje SMN proteina.SMA spada u rijetke bolesti, koje se danas može prilično obro liječiti, međutim efekat terapije je jako ovisan o brzoj i ranoj detekciji bolesti. Svjesnost o postojanju ovog stanja, primjerena edukacija zdravstvenih profesionalaca, posebice pedijatara je imperativna.Kako bismo shvatili važnost rane dijagnoze, primjereno je prikazati dostupne terapijske opcije i njihov efekat, a upravo to je i tema ovog tečaja u kojem predavač daje prikaz svega onoga što možemo koristiti u terapiji SMA, kao i mehanizam djelovanja pojedinih lijekova.Tečaj je preporučen za specijaliste i specijalizante neurologije, pedijatrije, porodične medicine, a primjeren je i za studente medicine.Tečaj je besplatan za registrirane članove. Registracija je također, besplatna.Tečaj je akreditovan od strane Ljekarske komore Tuzlanskog kantona.----------Ukoliko želite postati partner portala CME.ba ili želite da se Vaš brand ili audio poruke pojave na našim podcastima, mollimo da se javite na email info@cme.ba. Više informacija za potencijalne partnere potražite na OVOM LINKU. Medis Pacijentima i zdravstvenom osoblju omogućujemo pristup savremenom, efikasnom i bezbjednom liječenju.Disclaimer: This post contains affiliate links. If you make a purchase, I may receive a commission at no extra cost to you.Portal CME.ba je najbogatija platforma za medicinsko usavršavanje u regionu. Sve komentare ili prijedloge možete poslati na: Facebook Instagram Twitter LinkedIn Email na info@cme.ba Hvala na slušanju!

NAMIJENJENO ISKLJUČIVO ZDRAVSTVENIM DJELATNICIMA. PRISTUPOM PODCASTU POTVRĐUJETE DA STE ZDRAVSTVENI DJELATNIK.PREDAVAČ:Mr.med.sc. NINA MARIĆ, dr.med.specijalista pedijatrijesubspecijalista kliničke genetikeKoordinator za rijetke bolesti RSCentar za rijetke bolesti RSKlinika za dječije bolestiUKC RS BanjalukaBanjaluka, BiHLINK NA TEČAJPristupom na CME aktivnost na Portalu CME.ba imate priliku da na kraju iste uradite završni test, te da dobijete akreditovani CME certifikat.Atrofije spinalnih mišića obuhvaćaju nekoliko tipova nasljednih bolesti koje se očituju gubitkom skeletne muskulature zbog progresivne degeneracije stanica prednjeg roga u spinalnoj moždini i motornih jezgara u moždanom deblu. Znakovi se javljaju u dojenačkoj dobi ili djetinjstvu. Spinalna mišićna atrofija je uzrokovana defektom gena zvanog SMN1, glavnog gena odgovornog za stvaranje SMN proteina. Ovisno o težini i vrsti SMA, oboljele osobe imat će poteškoće sa kretanjem, ishranom i, u nekim slučajevima, sa disanjem pa vremenom postaju ovisnije o pomoći drugih lica.SMA spada u rijetke bolesti, koje bi se trebale brže i bolje dijagnosticirati kada bismo mi, medicinski profesionalci više mislili na njih. Upravo to i jeste cilj ovog tečaja – podizanje svjesnosti među zdravstvenim djelatnicima, posebice što u zadnjih nekoliko godina imamo puno bolje terapijske opcije koje poglavito ovise o ranoj detekciji. Nacionalni ekspert za rijetke bolesti u ovom tečaju daje revijalni prikaz onogoa što danas znamo o SMA.Tečaj je preporučen za specijaliste i specijalizante neurologije, pedijatrije, porodične medicine, a primjeren je i za studente medicine.----------Ukoliko želite postati partner portala CME.ba ili želite da se Vaš brand ili audio poruke pojave na našim podcastima, mollimo da se javite na email info@cme.ba. Više informacija za potencijalne partnere potražite na OVOM LINKU.Medis Pacijentima i zdravstvenom osoblju omogućujemo pristup savremenom, efikasnom i bezbjednom liječenju.

We discuss the pathophysiology, presentation, and available and emerging treatment for patients with spinal muscular atrophy. We are joined by Diana Castro, MD, Associate Professor of Pediatrics and Neurology at UT Southwestern and Children’s Health Dallas.

The first segment of Staying Muddy News. Kim and Lizzard talk about the advancement of modern vehicles. --- Send in a voice message: https://anchor.fm/cal-state-la-baja-sae/message

Today I speak with my good buddy Kevin Hackett. Kevin works in the world of genomics and has a biochemistry and genetics degree from Clemson University. In this episode we talk about gene editing and CRISPR. We start basic, with what genetics are and touch on topics including - how CRISPR works, what sorts of diseases it might be used for and what the future of gene editing looks like. If you're interested at all in this topic but like me, have limited knowledge on it, this podcast should be right up your alley.LINKS:Chinese researcher goes to jail for editing CCR5 five https://abcnews.go.com/International/chinese-scientist-reportedly-gene-edited-babies-sentenced-prison/story?id=67982103What is the SMN1 gene? https://ghr.nlm.nih.gov/gene/SMN1FDA-approved SMN1 gene therapy https://smanewstoday.com/2019/05/24/fda-approves-zolgensma-gene-therapy-newborns-toddlers-with-any-sma-type/Recent use of CRISPR in the news https://www.cbsnews.com/news/crispr-used-inside-a-humans-body-for-the-first-time-scientists-say-today-2020-03-05/theEWpodcast: http://theewpodcast.com/

We discuss how Asuragen is stating that a new screening kit, quickly and thoroughly analyzes SMN1 and SMN2 genes in the lab. & With all the variables that can come into play getting her Spinraza injection, DeAnn never feels totally at ease. She’s grateful for the opportunity and shares her journey to dose 10. Are you interested in learning more about the spinal muscular atrophy? Please visit www.smanewstoday.com

I got to sit down with Marisa Boidi and her 2.5 year old daughter Natalia who was diagnosed with SMA at 5 weeks old. SMA is Spinal muscular atrophy (SMA) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness.SMA affects approximately 1 in 11,000 births, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.There are four primary types of SMA—1, 2, 3, and 4—based on the age that symptoms begin, and highest physical milestone achieved.Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.The Boidi Family and Friends have raised $120,000 in 2 years to help not just Natalia but all children diagnosed with SMA. Be sure to follow Natalia on Facebook here https://www.facebook.com/Nataliasfight/?epa=SEARCH_BOX. Be Au Sm will donate $5.00 for every rating and review submitted on ITunes Podcast up to 100 ratings and reviews between 8/13/19-11/2/19.Natalia and Boidi family you are Au Sm thank you for sharing your life with us. Support this show http://supporter.acast.com/be-au-sm-episode-1. See acast.com/privacy for privacy and opt-out information.

We discuss how scientists have created a new method to calculate the number of SMN1 copies and identify SMA carriers. Also, Community Editor Kevin Schaefer talks about his spinal fusion surgery in 2005, and why this is an important procedure for many people who have SMA. Are you interested in understanding gene therapy? ExploreGeneTherapy.com has helpful information about gene therapy, including its history and how it is being investigated for the treatment of genetic diseases. Visit www.exploregenetherapy.com

Spinal muscular atrophy: development and implementation of potential treatments by Drs. David Arnold and Arthur Burghes and interviewed by Dr. Ted Burns. Ann Neurol. 2013 Sep;74(3):348-62. doi: 10.1002/ana.23995. This podcast is a brief discussion of the article in Annals in Neurology. The article discusses the rapid progress in the understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting potential treatments of the disease. Spinal muscular atrophy is caused by loss of the survival motor neuron 1 (SMN1) gene and reduced levels of SMN protein. The critical downstream targets of SMN deficiency that result in motor neuron loss are not known. However, increasing SMN levels has a marked impact in mouse models, and these therapeutics are rapidly moving toward clinical trials. Promising preclinical therapies, the varying degree of impact on the mouse models, and potential measures of treatment effect are reviewed. One key issue discussed is the variable outcome of increasing SMN at different stages of disease progression.

Spinal muscular atrophy: development and implementation of potential treatments by Drs. David Arnold and Arthur Burghes and interviewed by Dr. Ted Burns. Ann Neurol. 2013 Sep;74(3):348-62. doi: 10.1002/ana.23995. This podcast is a brief discussion of the article in Annals in Neurology. The article discusses the rapid progress in the understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting potential treatments of the disease. Spinal muscular atrophy is caused by loss of the survival motor neuron 1 (SMN1) gene and reduced levels of SMN protein. The critical downstream targets of SMN deficiency that result in motor neuron loss are not known. However, increasing SMN levels has a marked impact in mouse models, and these therapeutics are rapidly moving toward clinical trials. Promising preclinical therapies, the varying degree of impact on the mouse models, and potential measures of treatment effect are reviewed. One key issue discussed is the variable outcome of increasing SMN at different stages of disease progression.