POPULARITY
Dr. Nikolaos Papadantonakis discusses cytogenetics and mutational testing in MDS with Dr. Hetty Carraway and Dr. Moshe Mittelman and how they utilize this information in the clinical setting.
CME credits: 0.50 Valid until: 14-05-2025 Claim your CME credit at https://reachmd.com/programs/cme/initial-btk-inhibitor-based-treatment-selection-in-a-treatment-naive-symptomatic-unfit-older-patient-with-comorbidities-and-high-risk-cytogenetics/24452/ Selection of Bruton's tyrosine kinase (BTK) inhibitor therapy in CLL patients requires recognizing key differences between first- and next-generation agents in terms of the safety profile and efficacy across all patient types, including patients with high-risk features. Newer BTK inhibitors with greater kinase selectivity have shown fewer off-target adverse effects and allowed patients to switch BTK inhibitors with continued clinical benefit, fewer recurrences, and lower severity.
CME credits: 1.00 Valid until: 27-02-2025 Claim your CME credit at https://reachmd.com/programs/cme/improving-interprofessional-management-and-clinical-outcomes-with-parp-inhibitors-for-advanced-ovarian-cancer-cytogenetic-testing-and-parp-inhibition-for-maintenance-treatment/15664/ The establishment of poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors as an effective therapeutic strategy in ovarian cancer has been made possible through a deepened understanding of the impact of mutations in DNA damage response pathways on tumorigenesis. The success of this approach has led to the regulatory approval of PARP inhibitors for the treatment of patients with advanced ovarian cancer. PARP inhibitors as first-line maintenance therapy demonstrate a substantial and clinically meaningful benefit in progression-free survival among patients with newly diagnosed advanced ovarian cancer, including BRCA-mutated and HRD-positive disease. In some cases, regulatory approvals of PARP inhibitors have brought approvals for companion diagnostics or complementary diagnostic tests. Together, these developments have yielded a wealth of new options for managing ovarian cancer but have also complicated the effectiveness of the multidisciplinary care team, which is essential for the highest standard of cancer care delivery, linking emerging treatments and guidelines with patient education and empowerment. Another vital component of ovarian cancer care is the use of shared decision-making and patient-reported outcomes to increase patient satisfaction, therapy adherence, and quality of life. In this educational activity, expert faculty will review the role of genetic testing in identifying patients likely to benefit …=
On today's podcast we'll discuss high-risk cytogenetic abnormalities in solitary bone plasmacytomas. Then, we'll consider complement activation in vaso-occlusive pain episodes and how targeting C5a generation inhibited those effects. Finally we'll explore the genetics of platelet reactivity and how researchers used this data to develop a genetic score that was associated with risk of thrombotic diseases.
In the world of whole-genome sequencing, do we really need cytogenetics anymore? To answer this question, Chadi brings on two cytogeneticists: Linda Baughn, PhD, and Yassmine Akkari, PhD. They begin by describing their unique career paths to becoming cytogeneticists, their day-to-day responsibilities, and what tests they perform and on what specimens. They then simplify the commonly used assays in their labs, how cytogenetic techniques are evolving (rather than dying), what whole genome sequencing looks like in the future, and topics that cytogeneticists disagree on, among other discussion points. Check out Chadi's website for all Healthcare Unfiltered episodes and other content. www.chadinabhan.com/ Watch all Healthcare Unfiltered episodes on Youtube. www.youtube.com/channel/UCjiJPTpIJdIiukcq0UaMFsA
Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy. Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations.Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe CollegeKarina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passion for genetics education and advocacy. Currently, she is a student in the NH-ME LEND program working on furthering her experience with the disability community, and hopes to attend a Master's in Genetic Counseling program in the near future.In this episode we discuss:The mission of the LEND ProgramHow LEND helps people and families affected by neurodevelopmental disabilities Concepts and skills taught in LENDWho is eligible to participate in LENDThe LEND student experienceHow LEND prepares students for careers in genetic counselingUniversities that offer LEND and how students can get involvedTo learn more about LEND and how to get involved, check out their website. Stay tuned for the next new episode of DNA Today on January 13th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored) I don't know about you, but I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David's podcast, Papa PhD. I am a little biased, he had me as a guest back in May. The episode is titled, “Applying to Grad School in 2022 with Kira Dineen”. If you also speak French, he also does some episodes in French! I've enjoyed episodes about science communication, leadership, networking, science policy, public speaking skills, mentorship and more. Search “Papa PhD” in your podcast app to stream!
The presence of TP53 mutations is associated with an unfavorable outcome in patients allografted for acute myeloid leukemia (AML), leading some to question the benefit of an allogeneic stem cell transplantation (allo-SCT) for this patient group, although this has not been studied in a large cohort. Article: https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.34268 ALSO AS AUDIO ON https://podcasts.apple.com/us/podcast/trainee-pearls/id1596786132 https://open.spotify.com/show/2M1PWPZGW9Bz7PL5eh103Y CONNECT WITH US https://twitter.com/TheEBMT_Trainee https://www.ebmt.org/trainee-committee https://twitter.com/CarmeloGurnari
In this week's episode we'll first cover a research article demonstrating the striking contribution of neighborhood disadvantage to racial and ethnic disparities in survival in patients with acute myeloid leukemia. The second research article provides a model for understanding how disruption of the adult-globin promoter may alleviate promoter competition, thereby reactivating fetal gamma-globin gene expression. We will close with a research article showing that CD19-directed CAR T-cell therapy provides durable remissions in patients with relapsed or refractory ALL across cytogenetic categories, including those patients with high-risk cytogenetics.
Who proved the existence of dark matter? On this episode, Neil deGrasse Tyson and comic co-host Chuck Nice learn about hidden figures of science you need to know aboout with author and science communicator Danni Washington. NOTE: StarTalk+ Patrons can watch or listen to this entire episode commercial-free here: https://www.startalkradio.net/show/science-pioneers-with-danni-washington/Thanks to our Patrons Robert Anderson, Meagan Patrice, cael maurer, Marc-Anthony Serrano, Emily McKnight, Dave Fulton, lily_neko739, Josh Wyner, Tyler Mutchie, and Vanefede for supporting us this week.Photo Credit: Acagastya, CC0, via Wikimedia Commons
COR2ED Medical Education: In this podcast episode, myeloma experts Dr. María Victoria Mateos (Haematologist at the University Hospital Salamanca, Spain) and Dr. Alexander Lesokhin (Associate Attending on the Myeloma Service at the Memorial Sloan Kettering Cancer Center, New York, NY, USA) discuss how they choose the best treatment regimen for patients with multiple myeloma and a high-risk cytogenetic profile. Firstly, they discuss the treatment options available for patients with high-risk cytogenetics in the US and in Europe. However, the key question is how to decide, for each individual, which treatment option is the best one. Dr. Mateos and Dr. Lesokhin discuss the factors they consider in these decisions in their clinical practice. Although the prior treatment is the most important consideration in the relapsed setting, the type of cytogenetic abnormality also plays a role. The experts specifically discuss treatment decisions in patients with extramedullary multiple myeloma: a difficult-to-treat population. The speakers also discuss the future of myeloma treatment. How should trial design be adapted to better meet the needs of patients with a high-risk cytogenetic profile? What will be the role of CAR-T and bispecific antibodies in this population? The experts conclude by summarising their key take-aways from the discussion.
Flow Cytometry PearlsIn Part 2 of our Heme Path series, we get into the details of cytogenetics (conventional karyotype and FISH)1. “Cytogenetics” is the analysis of chromosomal changes in a cell, which includes additions, deletions, inversions, and translocations of important regions of genetic information. 2. We typically use cytogenetic information to help in disease diagnosis, decide treatment options, determine prognostic information, and, historically, assess response to treatment. 3. Two different techniques fall under this umbrella: conventional karyotype and fluorescence in situ hybridization (FISH)4. Conventional karyotype: A. What does this mean?: i. Assessment of large changes in chromosomes (Megabase sized)ii. Bone marrow specimen is arrested in metaphase with microtubule inhibitors, stained with Giemsa stain, and then cells are analyzed; a total of 20 cells are analyzed iii. The changes seen provide genetic and prognostic information iv. Example is in chronic myelogenous leukemia (CML), with pathognomonic t(9;22) which encodes the Philadelphia chromosome (ASH Image Bank example: https://imagebank.hematology.org/image/60150/t922-karyotype)B. Pros:i. Provides important information regarding diagnosis, treatment options, and prognosis particularly for MDS and acute leukemia. B. Cons/caveats: i. Can only be run on actively dividing cells (cannot be run on peripheral blood)ii. Very labor intensive, therefore slower turnaround time Cannot detect smaller genetic changes5. FISH A. What does this mean?i. More sensitive and targeted technique compared to conventional karyotype (Down to kilbased sized changes)ii. Uses fluorescently-labeled probes that target DNA regions that are pathognomonic for the suspected disease. Therefore, which probes are used is based on the clinical context iii. Example is in acute promyelocytic leukemia (APL), with pathognomonic t(15;17) which encodes PML-RARA gene (ASH Image Bank example: https://imagebank.hematology.org/image/61450/fish-showing-t1517q24q21-pmlrara-translocation)iv. Can also be run on fixed specimens. For example, FISH probes are used to determine presence of HER2 for breast cancer or for high risk rearrangements for DLBCL (MYC, BCL-2, BCL-6). B. Pros: i. Can be run on peripheral blood, marrow, or fixed specimen ii. Much faster than karyotype, which is useful when a diagnosis is needed quickly C. Cons: i. You need to have an index of suspicion for what you are looking for ii. Does not give full analysis of chromosomal changes, therefore you still need the karyotype References:https://www.nature.com/articles/nrg1692 - Nature review article about overview of cytogenetics https://www.ashclinicalnews.org/spotlight/demystifying-the-lab/demystifying-lab-cytogenetics/ - ASH overview on Cytogenetics Please visit our website (TheFellowOnCall.com) for more information Twitter: @TheFellowOnCallInstagram: @TheFellowOnCallListen in on: Apple Podcast, Spotify, and Google Podcast
In this podcast episode, Sarah M. Tinsley, PhD, APRN, AOCN, discusses targeted therapy with FLT3 and IDH1/2 inhibitors in AML, with a focus on the nursing perspective. Topics include:Approved and emerging treatment options for FLT3-mutated AMLManagement of adverse events associated with FLT3 inhibitorsTherapies for IDH1- and IDH2-mutated AMLIdentifying and managing differentiation syndrome associated with IDH1/2 inhibitorsPresenters:Sarah M. Tinsley, PhD, APRN, AOCNNurse PractitionerCourtesy Assistant ProfessorDepartment of Malignant HematologyMoffitt Cancer CenterUniversity of South FloridaTampa, Florida
木原均先生と3倍体種無しスイカについて話しました。Show notes だらけとまみれの違い マルコ・ポーロ … 東方見聞録の人 マルコ・ポーロ … プールの鬼ごっこ 東方見聞録 ジパング 麺の起源 蕎麦粉のガレット ワクワク伝説 Trader Joe's NeuroRadio ピクルス味のポップコーン 種無しスイカがnon GMOなのか?という質問はお控えください。 サイケデリック・マッシュルームやその他のエンテジェニック植物の非犯罪化に向けての協議(サマービル市) … “サマービルは、マサチューセッツ州で初めて、サイケデリック・マッシュルームやその他のエンテジェニック植物の非犯罪化に向けて動き出しました。” しいな 西瓜 シークヮーサー … 小さい「ヮ」って存在するんですね。 スペースワールド H2 … あだち充先生の傑作漫画 木原均 木原均小伝 … 木原ゆり子さんによる回顧録 Kihara. Proc. Amer. Soc. Hort. Sci. (1951) … “Triploid Watermelons” 3倍体種無しスイカについて英語で発表した最初の論文 スイバ … XY染色体による性決定を行う。高等植物では珍しい。 48. XXXXXYYYYY … researchat.fm ep48ではスイバについても触れています。性と染色体について話しました。 ゲノム Hans Winkler … 1920年にゲノムを提唱 倍数性 多倍体 … 多倍体(polyploidy)というべきところを倍数体といってしまうの良くないですね… 木原均 メンデル コレンス、チェルマク、ド・フリース … 1900年にメンデルの法則を同時に再発見 ネーゲリ … 染色体を初期に発見した人。ネーゲリの細胞生物学への貢献はすさまじいのでまたいつかまとめたい。 フレミング … 染色体を初期に観察した人。クロマチンの名付け親。フレミングの法則のフレミングとは別人。 Sakamura. Shokubutsugaku zasshi (1918) … “Kurze Mitteilung über die Chromosomenzahlen und die Verwandt-schaftsverhältnisse der Triticum-Arten.” 坂村徹先生が小麦がn=7であることを発見した論文。 財団法人木原生物学研究所編 生研時報 … “西瓜に種子がなかったらとは従来多くの人たちの願望であった。ところが最近その希望にそう如く西瓜の種子を発達せしめず単位結果のみをせしむることに成功した。即ち種子をなくす二つの新技術を発見することができたのである。第一は植物ホルモン処理によって西瓜の単位結果を促す方法で(寺田・益田1938,1940,1941,1942)、第二は三倍体の不燃性を利用する方法である(寺田・益田1943)。” このことからも寺田・益田の研究が先んじていたことは明白であろう。ただ、木原ゆり子さんの手記には”しかし、前述の寺田、益田両氏、共同研究者の西山市三氏、近藤典生氏、阿久津昴氏など大勢の協力によって作出は成功した。”と書かれているので、お互い協力関係にあったことは想像できる。また、4倍体スイカの作成は「木原・山下 1939」と「寺田・益田1943」なので、木原・山下の方が先行しているようだ。詳しいことをご存知の方はご連絡ください。現状、弊チャンネルでは「木原均先生は世界で初めて種なしスイカの実用化に成功した」とします。 寺田甚七先生・益田健三先生 … この寺田先生と益田先生は寺田植物研究所で研究をしていたと、木原ゆり子さんの手記には書いてあった。お二人とも北大の出身のようです。 寺田・益田. 京都園芸 (1935) … 単為結実に依る無種子西瓜に就いて: 初めての種無しスイカに関する論文。 寺田・益田.京都園芸 (1938) ….単為結実に依る無核西瓜に就いて(続報):インドール酢酸を使用? 寺田・益田.農及園 (1943) ...三倍性による西瓜の単為結実に就いて:三倍体種無しスイカに関する初めての報告 Sugiyama et al., Hort. Res. (Japan) (2015) … 上記の寺田先生と益田先生の論文群に関しては、資料を読むことができなかったために、杉山先生の論文を参考にさせていただきました。 単位結果 子房 受粉 … 今回の話は「種子植物においては」と毎回注釈をつけるべきでした。 受精 ジベレリン ノウカノタネ ヒトの非科学を笑うな … ノウカノタネさんによるジベレリンの解説 胚珠 花粉と花粉粒 減数分裂 autosome … 常染色体のこと 自家不和合性 コルヒチン Bomblies et al., Chromosoma (2016) … “The challenge of evolving stable polyploidy: could an increase in “crossover interference distance” play a central role?”: 4倍体植物の減数分裂に関する解説。 南洋興発 国立遺伝学研究所 … 静岡県三島市にある遺伝学を中心とした研究所 遺伝研年報 … 1949年以降、毎年の年報が見られる。英語も毎年発行されている。 片山哲 ソメイヨシノ 遺伝研のさくら 大麻 29. Born to chat … researchat.fm ep29では通し矢について言及しています。 カラコルム Morishima et al., Heredity (2008) … “Meiotic hybridogenesis in triploid Misgurnus loach derived from a clonal lineage”: 三倍体ドジョウにおけるmeiotic hybridogenesisについて プロイディゲーム 染色体セットの数と組み合わせの変化は魚介類に何をもたらすか。… 上記のドジョウの減数分裂の研究も行われている北大荒井先生によるドジョウとギンブナの三倍体減数分裂の解説。まだまだ理解しきれていないので勉強させていただきます。Figure1にギンブナの三極紡錘体形成についての記述があります。めちゃくちゃワクワクしますね! ギンブナの減数分裂 … まいん先生の三倍体ギンブナクローンの解説 Stenberg and Saura. Cytogenetic and Genome Research (2013) … “Meiosis and its deviations in polyploid animals”: hybridogenesis, Kleptogenesis, Pre-equalizing hybrid meiosis, Meiotic hybridogenesisの解説。何が何だかわかりません。勉強します。 プラナリア Cebrià et al., Nature (2002) … “FGFR-related gene nou-darake restricts brain tissues to the head region of planarians” プラナリアのnoudarake(ndk)に関する論文 おもてうら さかさに見ても 変わらぬは 螺旋の巻きと 縄のよれ方 木原均 1974 “The History of the Earth is recorded in the Layers of its Crust; The History of all Organisms is inscribed in the Chromosomes.” Hitoshi Kihara (1946) … “地球の歴史は地層に、生物の歴史は染色体に刻まれている。” 木原均 (1946) Editorial notes 種無しスイカを食べるときには遺伝学に感謝しながらいただくことにします。種子は苦手ですが、フルーツは好きです、パイナップル以外は。(tadasu) 近場で種無しスイカが売ってないので、バナナを食べながら歴史に思いを馳せます。(coela)
We're all aware of the way that next gen sequencing has changed many tests in the clinical laboratory. But some testing has held stubbornly resistant to change. This has been the case in cytogenetics, or the analysis of chromosomes. That is now changing thanks to a technology that is making inroads where next gen sequencing could not.
This week Kevin talks to Dr. Alan Walker, an expert on plant breeding and genetics and a young-earth creationist. Alan earned an MS in Plant Breeding in from the University of Maryland, and a PhD in Plant Breeding and Cytogenetics from Iowa State University. He worked 34 years in the seed industry, 6 years with The Ohio State University and 28 years with Asgrow Seed Company/Monsanto. As a soybean breeder, Alan co-developed 46 soybean varieties. In this episode, Alan explains why all of his expertise in plant genetics leads him to the conclusion that plants are not the product of random evolution—they were created by God. Educate For Life with Kevin Conover airs Saturdays at 12pm. Listen live on KPRZ.com and San Diego radio AM 1210. See omnystudio.com/listener for privacy information.
This week Kevin talks to Dr. Alan Walker, an expert on plant breeding and genetics and a young-earth creationist. Alan earned an MS in Plant Breeding in from the University of Maryland, and a PhD in Plant Breeding and Cytogenetics from Iowa State University. He worked 34 years in the seed industry, 6 years with The Ohio State University and 28 years with Asgrow Seed Company/Monsanto. As a soybean breeder, Alan co-developed 46 soybean varieties. In this episode, Alan explains why all of his expertise in plant genetics leads him to the conclusion that plants are not the product of random evolution—they were created by God. This episode first aired on June 17, 2021. Educate For Life with Kevin Conover airs Saturdays at 12pm. Listen live on KPRZ.com and San Diego radio AM 1210. See omnystudio.com/listener for privacy information.
This week Kevin talks to Dr. Alan Walker, an expert on plant breeding and genetics and a young-earth creationist. Alan earned an MS in Plant Breeding in from the University of Maryland, and a PhD in Plant Breeding and Cytogenetics from Iowa State University. He worked 34 years in the seed industry, 6 years with The Ohio State University and 28 years with Asgrow Seed Company/Monsanto. As a soybean breeder, Alan co-developed 46 soybean varieties. In this episode, Alan explains why all of his expertise in plant genetics leads him to the conclusion that plants are not the product of random evolution—they were created by God. This episode first aired on June 17, 2021. Educate For Life with Kevin Conover airs Saturdays at 12pm. Listen live on KPRZ.com and San Diego radio AM 1210. LEARN MORE: 5 facts that the Bible discovered thousands of years BEFORE modern science: https://educateforlife.org/5facts
Katie Carrick, mother of two and trained cytogeneticist, regales Heidi with stories of her own births as well as provides an introduction into the fascinating field of prenatal cytogenetics. Both of Katie's children were born in hospital, vaginally, and unmedicated! This Rockstar mom talks in depth about her hospital birthing experience and about the prenatal genetic screening she underwent. Looking for a Virtual Doula or Birth Planning Services to create a custom birthing experience and guide you through your journey to parenthood in the United States? Contact Heidi at www.mydoulaheidi.com For additional free birth education resources and to purchase Heidi's book, Birth Story: Pregnancy Guidebook + Journal, visit www.birthstory.com. Want to share your thoughts on the episode? Leave a review and send a message directly to Heidi on Instagram.
Why do cancers rearrange their genomes, and how do their chromosome evolutions shift their development? Research into theories of growth may shed some light on areas previously cloaked in mystery. Listen up to learn: The atavistic cancer hypothesis If tumors have localized microbiomes How altering the structure of tumors can play a role in defending them within the body? Kimberly Bussey, Assistant Professor of Precision Medicine at Midwestern University, shares her research into cancer genomes, their growth methods, and changes over evolutions. Some genes that may be essential for multicellular organisms may not be so for unicellular organisms. New research into single cancer cells may yield the discovery that essentialism could hold a fundamental discovery into what genes are genuinely essential in the proliferation and functions of cancer cells. Tumors appear to have a localized microbiome, making it more difficult for the body to fight the rogue cells, enhancing the environment for rapid proliferation and growth of the tumor. Creating these previously unfamiliar environments can fundamentally change the tumor and hamper the body's natural and usually effective immune response. Visit https://www.midwestern.edu/academics/our-faculty/kimberly-j-bussey-phd.xml to learn more. Episode also available on Apple Podcasts: apple.co/30PvU9C
In this episode of Teen Glendale Empowerment Now Talks (G.E.N.) hosts Melissa and Desiree sit down with Alex Carmichael, Cytogenetic Scientist. Alex shares how his lifelong passion for science eventually led him to Cytogenetics.
Kira Dineen is a Prenatal Genetic Counselor, science communicator and the host of the Award-Winning Podcast DNA Today covering the fascinating field of genetics. Kira and I had a great chat about how she started podcasting, tips and tricks for building an award-winning podcast as well as her podcasting journey led her down the path to becoming a prenatal genetic counselor. We discussed different types of genetic testing, cytogenetics, counting chromosomes, age-related pregnancy risks, how it genetic testing works and treatment options for genetic conditions.
Wizzwatch Stock Market Podcast Vol. 77Stock 2 Watch 01.15.2021 $BNGO$BNGO - Bionnano Genomics, Inc. -----------------------------------------------------------------------------------------------------INFOBlogger - wizzwatch.blogspot.comFacebook - wizzwatch stock trading groupTwitter - wizzwatchPinterest - wizzwatchLinkedin - marlinrolleDiscord - wizzwatchInstagram - wizzwatch----------------------------------------------------------------------------------------------------ABOUT WIZZWATCHWizzWatch is the place for active traders as well as individual investors to find the very best stocks on Wall St. We provide commentary, picks of the week, as well as stocks on the move. "We find the very best stocks to fit your investment objectives". We cover thousands of publicly traded companies that trade on the NASDAQ,OTCBB, Pink Sheets and the NYSE. We have the answers for your stock market day to day questions. If you have a question about a publicly traded company, and would like to find out more, feel free to ask or send an email to wizzwatch@gmail.com.-----------------------------------------------------------------------------------------------------BECOME A STUDENT If you are interested in finding out more information or learning how to trade stocks please feel free to send me a message via email at wizzwatch@gmail.com. -------------------------------------------------------------------------------------------------DISCLAIMERLegal Disclaimer: This channel is solely for informational purposes. Past performance is no guarantee of future returns. Stock trading involves risk, the stocks listed are not buy recommendations please do your own due diligence or get help from a proffesional before trading.------------------------------------------------------------------------------------------HASHTAGS#bngo #bionanagenomics #stocks #stockmarket #genomics #investing #investors #diagnostics #thereapeutics #saphyrsystem #cytogenetics #usa #canada #japan #china #africa #middleeast #korea #china #australia #singapore #sandiego #southkorea #california #DNA
Emma tells Emlyn about the geneticist Dr. Nettie Maria Stevens, who was one of the first scientists to discover sex determination by chromosomes. Check out our holiday merch! www.stemfatalepodcast.com/merch Sources Main Story - Nettie Maria Stevens Brush, S. (1978). Nettie M. Stevens and the Discovery of Sex Determination by Chromosomes. Isis, 69(2), 163-172. Retrieved November 23, 2020, from http://www.jstor.org/stable/230427 Ogilvie, M., & Choquette, C. (1981). Nettie Maria Stevens (1861-1912): Her Life and Contributions to Cytogenetics. Proceedings of the American Philosophical Society, 125(4), 292-311. Retrieved November 23, 2020, from http://www.jstor.org/stable/986332 Stevens, Nettie Maria. (1901). Studies on Ciliate Infusoria. United States, Hopkins Seaside Laboratory. https://www.google.com/books/edition/Studies_on_Ciliate_Infusoria/8Ic_AQAAMAAJ?hl=en&gbpv=1&dq=%22studies+on+ciliate+infusoria%22&pg=PA1&printsec=frontcover O'Connor, C. & Miko, I. (2008) Developing the chromosome theory. Nature Education 1(1):44. https://www.nature.com/scitable/topicpage/developing-the-chromosome-theory-164/# Gelling, C. (2016). Nettie Stevens: Sex chromosomes and sexism. Genes to Genomes Blog by GSA. http://genestogenomes.org/nettie-stevens-sex-chromosomes-and-sexism/ Women who Work Sara B Weinstein, Katrina Nyawira Malanga, Bernard Agwanda, Jesús E Maldonado, M Denise Dearing. The secret social lives of African crested rats, Lophiomys imhausi. Journal of Mammalogy, 2020 DOI: 10.1093/jmammal/gyaa127 University of Utah. "The secret social lives of giant poisonous rats." ScienceDaily. ScienceDaily, 19 November 2020. www.sciencedaily.com/releases/2020/11/201119135403.htm Music “Mary Anning” by Artichoke “Work” by Rihanna Cover Image The Incubator (courtesy of Carnegie Institution of Washington) - http://incubator.rockefeller.edu/wp-content/uploads/2010/05/NettieStevens.jpg
Cytogenetics In Male Infertility --- Send in a voice message: https://anchor.fm/dr-richa-sharma/message
In this episode, sponsored by Thermo Fisher Scientific, we’re taking a look at how genomic technologies are transforming cancer care - now and in the future, and the importance of making sure that these advances are available to all.With:- Greg Simon, past president of the Biden Cancer Initiative and former executive director of the White House Cancer Moonshot Task Force.- Jim Downing - president and CEO of St Jude Children’s Research Hospital- Dr Marianne Grantham, Head of Cytogenetics and Molecular Haematology department at the Royal London Hospital- Kim Wood, Thermo Fisher Scientific’s Clinical Sequencing DivisionFull show notes, transcript, music credits and references online at GeneticsUnzipped.com.Follow us on Twitter @GeneticsUnzipGenetics Unzipped is written and presented by Kat Arney with audio production by Hannah Varrall.This podcast is produced by First Create the Media for the Genetics Society - one of the oldest learned societies in the world dedicated to supporting and promoting the research, teaching and application of genetics.
Interview with Dr. Sara Winokur, Geneticist, MD Cytogenetics, PhD Molecular Genetics
Learn about a research-backed way to achieve better self control by asking for help from others; how Ambystoma salamanders “steal” DNA from other species via kleptogenesis; and how your brain can process visual information as sound. For better self control, ask for support from others by Kelsey Donk Juan Pablo Bermúdez. (2020, January 15). Self-Reliance Isn’t a Superpower, It’s a Vice. Medium; Elemental. https://elemental.medium.com/self-reliance-isnt-a-superpower-it-s-a-vice-976508e18774 Duckworth, A. L., Milkman, K. L., & Laibson, D. (2018). Beyond Willpower: Strategies for Reducing Failures of Self-Control. Psychological Science in the Public Interest, 19(3), 102–129. https://doi.org/10.1177/1529100618821893 Kleptogenesis is evolution's weirdest breeding technique by Cameron Duke Feltman, R. (2017, June 14). How a female-only line of salamanders “steals” genes from unsuspecting males. Popular Science; Popular Science. https://www.popsci.com/female-salamander-kleptogenesis/ Unisexual salamanders (genus Ambystoma) present a new reproductive mode for eukaryotes - Genome. (2020). Genome. https://www.nrcresearchpress.com/doi/abs/10.1139/G06-152#.Xk2rBpNKhhE Bi, K., & Bogart, J. P. (2006). Identification of intergenomic recombinations in unisexual salamanders of the genus Ambystoma by genomic in situ hybridization (GISH). Cytogenetic and Genome Research, 112(3–4), 307–312. https://doi.org/10.1159/000089885 Parthenogenesis - an overview | ScienceDirect Topics. (2019). Sciencedirect.Com. https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/parthenogenesis Ambystoma barbouri (Streamside Salamander). (2017). Animal Diversity Web. https://animaldiversity.org/accounts/Ambystoma_barbouri/ Lip reading without sound lights up your auditory cortex, and scientists now know why by Grant Currin Hearing through lip-reading. (2020). EurekAlert! https://www.eurekalert.org/pub_releases/2020-01/sfn-htl010220.php What is Magnetoencephalography (MEG)? | Institute for Learning and Brain Sciences (I-LABS). (2012). Washington.edu. http://ilabs.washington.edu/what-magnetoencephalography-meg Bourguignon, M., Baart, M., Kapnoula, E. C., & Molinaro, N. (2019). Lip-Reading Enables the Brain to Synthesize Auditory Features of Unknown Silent Speech. The Journal of Neuroscience, 40(5), 1053–1065. https://doi.org/10.1523/jneurosci.1101-19.2019 Subscribe to Curiosity Daily to learn something new every day with Cody Gough and Ashley Hamer. You can also listen to our podcast as part of your Alexa Flash Briefing; Amazon smart speakers users, click/tap “enable” here: https://curiosity.im/podcast-flash-briefing
In this episode, we meet Katie (a former Cytogenetic and Molecular Technologist turned writer and podcast host), talk genetics, and find out what a gold star means in her house.Topics include:Prenatal Genetics: Carrier Screening, NIPS, Chromosomes.Infectious Diseases: Have you seen Contagion?Commercial Genetics kits and Katie’s risky Father’s Day giftsTwinsCRISPRMixed Match documentary on Bone Marrow Transplants and Genetic DiversityParenting is Awesome: Katie’s Gold Star Story (watch out, there’s poop!)
This podcast summarizes the findings of the Lunenburg Lymphoma Biomarker Consortium systematic evaluation of MYC rearrangements in DLBCL, and discusses the prognostic impact of MYC, BCL2 and BCL6 rearrangements, and implications for FISH testing in newly diagnosed DLBCL. TRANSCRIPT This JCO Podcast provides observations and commentary on the JCO article “Prognostic Significance of MYC Rearrangement and Translocation Partner in Diffuse Large B-Cell Lymphoma - A Study by the Lunenburg Lymphoma Biomarker Consortium” by Rosenwald et al. My name is Jeremy Abramson, and I am an attending physician at the Massachusetts General Hospital and an Associate Professor of Medicine at Harvard Medical School. My oncologic specialty is lymphoma. MYC rearrangements occur in approximately 10% of diffuse large B-cell lymphomas and have been associated with a worse prognosis. When the MYC translocation occurs in concert with translocations of BCL2, BCL6, or both, initial series have suggested particularly poor outcomes with few patients achieving long term survival with conventional therapies. This entity has been classified in the current WHO classification as high-grade B-cell lymphoma with rearrangements of MYC and BCL2 and/or BCL6 and is more conventionally known as double (or triple) hit lymphoma. Though initial series painted a grim prognosis for these patients, more recent larger series have suggested that approximately 40% of double hit lymphoma patients may be cured, and that outcomes may be improved with more intensive regimens such as dose-adjusted EPOCH-R. Most of these published series to date, however, continue to be limited by significant selection bias whereby cases with the most aggressive clinical or histopathologic features are likelier to be tested for MYC translocations, thus potentially excluding more prognostically favorable patients. The small size of series to date has also made it difficult to assess more granular questions in MYC translocated diffuse large B cell lymphoma, hereafter referred to as DLBCL, such as the prognostic impact of MYC translocations when occurring without other translocations, the impact of translocation partner with MYC (Ig or non-Ig gene locus) in double hit lymphoma, and the significance of MYC/BCL6 double hit lymphomas which are far less common than MYC and BCL2. Another practical question is who should we be testing for MYC translocations in the first place? Do we need to test every new case of DLBCL? Or should we routinely test only an enriched population, such as those with MYC protein expression by immunohistochemistry, or GCB-like DLBCLs, which include the majority of double hit lymphomas? In the article that accompanies this podcast, the Lunenberg Lymphoma Biomarker Consortium presents the single largest and most systematic analysis to date of MYC translocations in DLBCL, and sheds significant light on many of the most outstanding questions in this population. The Consortium studied over 2000 cases of DLBCL with available tissue and clinical data, drawn from large prospective cooperative group studies as well as population-based registries in Canada, the United Kingdom and the United States. The median age of the cohort was 66 years, and the median follow up was mature at greater than 6 years. All patients were treated with R-CHOP or R-CHOP-like therapy. MYC rearrangements were found in 11% of patients. One third of these occurred as a sole rearrangement, 39% in concert with a BCL2 rearrangement, 15% with a BCL6 rearrangement, and 12% with both (i.e. triple hit lymphoma). Patients with MYC rearrangements had higher risk features by the IPI score than the entire DLBCL population, and patients with double/triple hit lymphoma had higher clinical risk factors than patients with MYC rearrangements alone. Patients with double or triple hit lymphoma had a significantly inferior outcome in terms of both progression free and overall survival compared to the overall DLBCL cohort, while no negative prognostic impact was conferred by a MYC translocation alone. Notably, the prognostic impact was only observed in the first 2 years from diagnosis. They also compared the 31 MYC/BCL6 double hit patients with 82 MYC/BCL2 double hits, and found similar outcomes in the groups, validating that MYC/BCL6 double hit lymphomas should be considered high risk along with their BCL2 translocated counterparts. Prognosis for triple hit lymphoma was no worse than double hit lymphoma. Perhaps most striking, however, was how well double and triple hit lymphoma patients did when compared to previously published retrospective studies. In this comprehensive evaluation by the Consortium, approximately 60% of double and triple hit lymphoma patients remained progression free beyond 5 years, and two thirds remained alive. These remarkable data suggest that the majority of double and triple hit lymphomas identified by broad screening of the DLBCL population may be cured with chemoimmunotherapy and should offer encouragement to patients and providers alike. Importantly the Consortium's analysis includes only patients with DLBCL morphology, so excluded double/triple hit patients with Burkitt or Burkitt-like histology who may have an inferior outcome compared to the double hit lymphoma patients in this analysis. MYC and BCL2 protein expression (so called dual expressor lymphomas) was also analyzed in 1414 cases with available tissue. MYC (≥40%) and BCL2 (≥50%) co-expression was associated with an inferior outcome compared to he general DLBCL population, though better than double/triple hit lymphomas, and notably the majority of dual expressor patients remained free from progression and alive at greater than 2 years of follow up after treatment with R-CHOP-like therapy. On evaluation by cell of origin, patients with GCB-like DLBCL had a slightly more favorable outcome compared to non-GCB, as defined by immunohistochemistry. GCB-like DLBLC more commonly had MYC rearrangements, and exclusively contained the MYC/BCL2 subset of double hit lymphoma, while MYC/BCL6 cases occurred within both cell of origin subgroups. These robust data from this large systematic analysis address several pressing questions regarding MYC-rearranged DLBCL. First, they tell us that a MYC rearrangement in the absence of a rearrangement of BCL2 and/or BCL6 does not predict an adverse outcome in DLBCL and may be treated as a routine DLBCL with R-CHOP-like therapy. Second, we learn that MYC translocation partner in the setting of a double/triple hit lymphoma matters, with the negative prognosis driven by MYC/Ig translocations rather than MYC rearranged with a non-Ig partner which does not appear to confer negative prognostic influence. Third, while MYC/BCL6 double hit lymphomas are uncommon, they appear to predict similarly inferior outcomes as MYC/BCL2 double hit lymphomas and triple hit lymphomas. And fourth, very importantly, the outcome of double/triple hit DLBCL, though inferior to the entire DLBCL population, appears much better than previously estimated with approximately two thirds of patients achieving long term progression free and overall survival when treated with standard chemoimmunotherapy. It warrants emphasis that this applies to cases morphologically classified as DLBCL, not necessarily to cases with Burkitt-like or blastoid features which were not included in the LLBC study and likely have a less favorable outcome. For this reason, it is essential that pathologists signing out cases as aggressive B-cell lymphoma with translocations of MYC and BCL2 and/or BCL6 also indicate the morphologic subtype as DLBCL versus a higher grade appearance as this information will be essential for clinicians in applying the LLBC findings to prognostication in the clinic. Finally, this study provides us critically needed guidance in determining which cases warrant evaluation with fluorescence in situ hybridization (FISH) to detect MYC, BCL2 and BCL6 rearrangements. Presently, practice patterns are mixed with some centers testing all cases for MYC, while others test only enriched populations such as GCB-like DLBCL or double expressor DLBCL, and still other centers not routinely evaluating MYC at all in DLBCL. The Consortium data validate that MYC translocations in DLBCL affect a sufficient proportion of the population and confer sufficient prognostic importance as to warrant testing. They also show us that conventional immunohistochemistry for either cell of origin or MYC/BCL2 double expression status are not sufficient to direct FISH testing. Testing only GCB-like DLBCL would indeed identify all cases of MYC/BCL2 double hit lymphomas but would fail to identify a significant proportion of MYC/BCL6 double hit cases. Performing FISH only on cases meeting current immunohistochemical thresholds for MYC and BCL2 double expressor lymphomas would fail to identify more than one quarter of cytogenetically defined double hit lymphomas, which would also be unacceptable. These data therefore support testing all newly diagnosed cases of DLBCL and high-grade B-cell lymphoma with FISH for MYC. A positive FISH assay for MYC should prompt reflexive testing for both BCL2 and BCL6, which would then differentiate cases of single hit cases with MYC translocations alone from the higher risk double and triple hit lymphoma patients. The fact that the prognostic impact of double and triple hit lymphoma is seen only within the first 2 years from diagnosis underscores the need to optimize upfront therapy in these diseases. The data from the Lunenburg Lymphoma Biomarker Consortium suggest that R-CHOP-like therapy remains an acceptable standard of care in double expressor lymphomas, DLBCL cases with isolated MYC rearrangements, and perhaps even double/triple hit lymphomas with DLBCL morphology, though these cases have increasingly been treated with more intensive regimens such as dose-adjusted EPOCH-R or Burkitt-like regimens based on prior series. In the absence of data clearly supporting one approach versus the other, I would consider either intensive approaches or standard R-CHOP as reasonable considerations in cases of double hit lymphoma with DLBCL morphology and should be individualized to the patient. Ultimately, we would like to overcome biological liabilities with biologically directed therapies, and the US Intergroup is now conducting a randomized clinical trial evaluating chemoimmunotherapy with or without the BCL2 inhibitor venetoclax specifically in double hit and double expressor lymphomas, with the chemoimmunotherapy backbone being dose adjusted EPOCH-R for double hits, and R-CHOP for double expressors. Participation in this important study is encouraged. This concludes this JCO Podcast. Thank you for listening.
The National Society of Genetic Counselors celebrated 40 years at this year’s annual conference! In 2019, we surpassed having 5,000 genetic counselors in the US/Canada! We now have 45 genetic counseling graduate programs in the US and 40 more international.In this podcast episode we recap highlights from the sessions and tips for new attendees next year. Below are some of our talking points and resources we mentioned in the episode. Also check out #NSGC19 on Twitter to read more insight from the conference.Should All Women With Breast Cancer Be Offered Genetic Testing?Panel: Dr Mark Robson from MSK, Dr Peter Beitsch from the Dallas Surgical Group, Sue Friedman founder of FORCE.Moderators: Dr. Lisa Madlensky from UC San Diego and Dr. David Euhus from Johns HopkinsMain points of the talk included…Clinical utilityInformed consent vs informed assentResearch vs diagnosticConcordant vs discordant resultsAccessibility and information givingProvider education and utilization of genetic counseling skillsetNCCN GuidelinesEmerging Therapies for Adult-Onset Neurologic Diseases: Possibilities, Pitfalls And Patient ImpactDr. Sonia VallabhPrion Alliance’s WebsiteWIRED’s article, “One Couple’s Tireless Crusade to Stop a Genetic Killer”The Guardian’s article, “The Lawyer Who Became A Scientist To Find A Cure For Her Fatal Disease.”Enabling The Beautiful Uncertainty of Life: My Journey With PGT-MLee Cooper, JDLee’s article in STAT News, “Genetic Testing Plus IVF Can Sidestep Genetic Disease And Reduce The Need For High-Priced Therapies.”The Institute For Genetic Disease PreventionIn Utero Stem Cell Transplantation: Historical Context, Present State And The Future Of Fetal Molecular TherapiesBillie Rachael Lianoglou, MS, UCSF Center for Maternal-Fetal Precision MedicineTIME Magazine Feature, “Scientists Are Developing New Ways to Treat Disease With Cells, Not Drugs.”Clinical Trial for Alpha Thalassemia MajorUCSF Center for Maternal-Fetal Precision Medicine’s WebsiteHot Topics In Teratology: Zika, Marijuana, and Maternal Therapies For Genetic DiseaseVictoria Wagner, MS, CGC, Myla Ashfaq, CGC, Jennifer Lemons, CGC all from McGovern Medical School at the University of Texas HealthCDC’s Zika General Resources and Pregnancy ResourcesMother To Baby (DNA Today Interview with MTB)Marijuana in Pregnancy Fact SheetConference TipsExhibit hall for networking, free genetics apparel, job board, professional and fun photos.Wear layers because lecture halls are freezing.Lunch sessions are free and sponsored by labs.Prioritize select sessions, there is too much to do everything.Attend a Special Interest Group (SIG), you don’t have to be a member.Follow and join conversations on Twitter (#NSGC19 and #gcchat)Students, job hunt utilizing the job board (in the middle of the exhibit hall) and hand out your resume. If there is a meet up with a specific company/hospital you are interested in working with/at, then go check it out!The PanelMichael Peneycad is a second year graduate student at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College, originally from Grand Rapids, Michigan. He earned his B.S. in Cell & Molecular Biology from the University of Michigan and spent time as adjunct faculty at Grand Valley State University before relocating to New York City in 2014. Michael has been involved in many industries including entertainment, events, automotive, and health care in his time before entering graduate school, working with companies such as Spectrum Health Medical Group, Mazda, Jaguar/Land Rover, Chanel, Google, and Target. Michael has also spent years performing in musicals, commercials, and voice-overs during the time between his academic studies. His professional interests include cancer genetics, patient and provider education, and public health initiatives. You can follow Michael on Twitter and Instagram. Go Blue!Ashlyn Enokian is a second year genetic counseling student from Brighton, Michigan. She earned her BS in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Ashlyn was previously a genetic graphic design intern at My Gene Counsel. Her professional interests include fertility, neurogenetics, and strategies to increase diversity in the field. She acts as a student representative of Sarah Lawrence College’s Class of 2020. You can follow Ashlyn on Twitter..Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015, 2016 and 2019 Podcast Awards. She also hosts other healthcare podcasts including Working For Health, Advancing Dentistry, and Insight Says: A Mental Health Podcast. Kira is a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her in Bachelor's of Science degree in Diagnostic Genetics with a Cytogenetics concentration at the University of Connecticut, and has a certification as a Cytogenetic Technologist. Along with Ashlyn, she is a student representation in Sarah Lawrence College’s Genetic Counseling Class of 2020.Want to learn more about Sarah Lawrence College’s Genetic Counseling Program? Come to our open house this Friday (November 15th) from 6-8pmET.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.
Session 116 Residency director and pathologist Michelle Dolan, MD joins me to talk about how to get the most out of your residency and what it means to slap glass. Specialty Stories is part of Meded Media. If you haven’t yet, please do check out all our other podcasts geared towards helping premeds, medical students, and residents along their path to medicine. Listen to this podcast episode with the player above, or keep reading for the highlights and takeaway points. [01:45] Interest in Medicine Michelle initially didn't know what to do back in medical school until during her second-year pathology course. One of their lecturers encouraged them to do a pathology rotation. So she did and she loved it. She had to choose between Internal Medicine and Pathology. What drew her to Internal Medicine was hands-on patient care. But there were also some things that she didn't like. One of those five years could be a clinical intern year. So she decided to do an internship in internal medicine and she realized she really likes hospital care. This was before the advent of the hospitalist. She didn't like the clinical aspect but she liked the slower pace of pathology. [04:30] Traits That Lead to Being a Good Pathologist The ability to focus is an important trait to have in order to be a good pathologist. For instance, you need to be able to sit in one place for an extended period of time at the microscope or the computer screen. If you're going into anatomic physiology, a good chunk of your day is going to be spent "slapping glasses" where you just sit at the microscope and look at a lot of different cases. But not every field in Pathology is like that. One of the things that she likes about the field is how varied it is. You just have to be able to find that good fit for yourself. Because pathology is so varied, there are people who are very visual and love learning by seeing. There are also other parts where it's much more conceptual where you learn a lot by reading and thinking. There are other areas where you can learn by doing. To help you figure out which area to go into is to know yourself. [Related episode: The Pathologist as Medical Detective] [06:45] Pathology as a Varied Field There are not many trained pathologists that are cytogeneticists. One of the benefits of the Pathology residency is the exposure to every area within pathology. You can see what you like and you don't like, or what's a good fit and what isn't. Then you can plan your career from there. Pathology is a broad field in that they can look at a variety of patients from prenatal through geriatrics patients. They look at the entire lifespan. Moreover, pathologists get to know clinicians from a huge number of different fields. Michelle is also boarded in Molecular Pathology, which now goes hand in hand with Cytogenetics. There are so many tests now coming on board for molecular testing, most of which are housed in Pathology laboratories. Those connections among the different fields of medicine are only going to grow. [09:50] Increasing Exposure to Pathology All those being said, Pathology is not a required rotation in medical schools. This is a huge challenge because there's a striking decrease in the number of U.S. medical school graduates choosing Pathology. There's so much curriculum change in medical schools now that Pathology is getting shorted on some face time so it's difficult to engage students. To overcome this challenge, they try to be creative in coming up with ways to engage students. One of which is through a Pathology interest group. They also offer a Post-Sophomore Fellowship (PSF). It's an entire year spent between the first two basic science years and years 3 and 4. It's sort of a hiatus year where the PSF works like a Pathology resident. While a number of people who have done their PSF program have gone on into Pathology, there's also a good number of those who have gone into different paths. It's a great year to learn your clinical medicine because Pathology requires a lot of knowledge of clinical medicine. Because they test a pretty broad patient spectrum, it's very helpful for people going into other fields to have a firm understanding of Pathology. [12:40] Breaking the Stigma There could also be this ego among students where they go into medicine thinking they want to save people's lives. So why go into something they "assume" can't have a big impact on people's lives. There is this weird stereotype around Pathology where people think they're sociopaths. And Michelle admits to still hearing interviewees for residency being questioned by other specialties on choosing Pathology when they're so good with people. This is a big point of contention for a lot of them in Pathology. So much of their jobs require interaction with clinicians. There's a very strong drive now in Pathology to be out there more interacting with patients. They have initiatives like the "see, diagnose, and treat" put forth by the College of American Pathologists. Women from underserved areas would be able to come in and have a pap smear done. They'd be able to see those cells underneath the microscope. A diagnosis would be made at that time and interaction with the pathologist to be able to help them move forward with their care. Most pathologists don't have day-to-day interaction with patients. This was even hard for Michelle initially since she liked working with patients. That being said, there are also some downsides. You can't romanticize the daily work involved in dealing with patients. [16:10] The Effect of Reimbursement Changes on Pathology Michelle admits she's being protected from this being in academia since they take care of billing for her. However, insurance companies don't reimburse well for some of the more complex testing that they want to do have. So they try to subsidize these by the bread and butter stuff so they can generate funding that will support some of the more esoteric testing. Pathology has a very large professional footprint in the College of American Pathologists that they have a very strong advocacy role in Washington. They've pushed very strongly for better reimbursement for pathologists. [18:50] Message to Medical Students on Rotation A lot of their resident applicants actually found themselves being less interested in the surgery, procedure, or direct patient care than they were about seeing what happened to that specimen they took. They were curious about what those cells were in the fluid. Typically, attendings on those other rotations are quite supportive when they realize someone has an interest in Pathology. They actually encourage them to follow it up in the Pathology lab. Michelle recommends that third and fourth-year medical students on rotation should familiarize themselves with their hospital laboratory. You have to understand how tests are properly validated. Know the strengths and limitations of those tests as well as the positive predictive values and negative predictive values. These things seem esoteric but they're very important to know. Much that goes into laboratory medicine is knowing the backstory of those results. A lot of test results are automated results. But you can't just buy any instrument out there. There are extensive validations needed. You need to understand false positives, false negatives, sensitivity, specificity, etc. How low can you go to detect someone with minimal residual leukemia? How confident are you in saying that there's no disease or there's a little bit of disease? These are all important things that are easy when you're on the wards, you say all those numbers. But there's a lot that goes into it. The more that you know about that, the better off you and your patients will be. [22:50] A Day in the Life of a Pathologist A typical day of a pathologist primarily depends on their type of rotations. They offer both anatomic and clinical pathology. The anatomic pathologists look at tissues coming from patient in surgery. Clinical pathologists are involved in hematopathology. They look at bone marrow biopsies. They are the clinical chemists, cytogeneticists, molecular diagnosticians, immunologists, and blood bankers. So it depends on what rotation the resident is on. If they're on anatomic pathology rotation, they are looking at slides most of the day. They may be grossing in specimens. This means they're processing specimens so they can cut them and get them onto the slides. Then they look at them under the microscope. They may be doing frozen sections running back and forth between the O.R. and the grossing room where they do immediate evaluations of tissues. In cytopathology, they may be out doing a fine-needle aspiration or an adequacy assessment if someone is having a procedure done under ultrasound or interventional radiology guidance. In a clinical pathology rotation, they're on blood bank. They may be out doing transfusion reaction workups. They may be consulting on apheresis patients. If they're a hematopathologist, they may be out doing a bone marrow biopsy or evaluation bone marrows under the microscope. Michelle clarifies that although they're not directly involved in patient care, they still want to help patients. They're helping patients by looking at and processing all of these specimens properly. [25:10] How to Be a Competitive Applicant Some of their applicants will almost do a mini-residency where every one of their rotations has been skewed towards pathology. This is not a bad thing actually. But she tells them that they have four years to become a pathologist. What she really likes them to learn well is clinical medicine. So really do good, focused clinical rotations. They will help you become a pathologist. Of course, you should do a basic pathology rotation. This will allow you to figure out if you're a good fit. And also, this will help you develop a good working relationship with a mentor who might be able to give you a good letter of recommendation. It is helpful for program directors to know that the applicant actually knows what pathology is all about. So they don't come into it thinking it's all just forensics or autopsies. Again, know clinical medicine as best as you can. Moreover, pathology has the aura that your answer to a given specimen is the only answer. But this is not true. They consult themselves a lot. There's not just one answer to things. There's often not a definite answer that people are expecting. [28:00] Overcoming Bias Towards DOs Michelle says that they've never seen any bias towards DOs. In fact, a lot of DOs come through their program. They have a lot of applicants who are DOs. One of their strongest residents was a DO who just left for a cytopathology fellowship. So she gives the same advice to interested DO applicants to know clinical medicine. That being said, she has never come across any bias towards DOs. [29:05] What Makes a Great Pathology Resident No matter what field of medicine you're in, you will get out of residency what you put into it. So they want to see someone who's really interested in Pathology. One has to have the drive and they want to see things, participate, and actively do things. A resident can't be exposed to every entity that's in pathology textbooks. They're going to have to do a lot of independent learning and reading. They have to look at the great images that are now available online. They want to see some of that initiative. Get early, stay late. Participate in as many as different conferences as possible. Ask questions. Moreover, they've had people who would seem they'd struggle if it were just based on paper. But they've overcome that. They're stronger for it. Michelle explains that they are liberal in the sense of not judging people on paper. They're willing to give people a second chance. Another misplaced emphasis is trying to do a mini-path residency as explained earlier. You have multiple areas you've done rotations in instead of just focusing on your clinical knowledge. [33:15] What She Would Have Told Her Younger Self Michelle would probably tell her younger self that just because you're looking for the perfect fit, don't worry, you will find that square hole eventually. Keep an open mind. For instance, Michelle kept her forensics rotation to the very end thinking she was going to hate it. But she loved it! Had she just had an open mind and done it a bit earlier, her whole career might be very different since she was already doing her fellowship at that point. Be patient with yourself. They met a number of applicants every year that didn't find anything that really clicked until they did their pathology rotation. [36:02] The Most and Least Like Things Michelle loves interacting with clinicians. She finds it very rewarding as she's able to get a sense from them as to what their struggles are. This way, they'd be able to determine what is needed for them to make a diagnosis and how to help them. They've made some calls that have literally been life-saving. Those may not happen everyday, but they do happen frequently. On the flip side, what she likes the least is the feeling that there is so much in pathology that you can't master. There's just so much to know. And it's becoming more subspecialized. They also have to realize the fact that they're not immune to making mistakes or misses that have significant negative ramifications on patient care. It can be a difficult, almost paralyzing fear that you can develop. You just have to make the best decision and best diagnosis you can and move forward. [37:50] Major Changes in Pathology Michelle thinks that all of the major advances in genetics and genomics is huge. Most of these targeted drug therapies are driven by molecular diagnostics. It's a specialty field you can do a fellowship in Pathology. Personalized medicine and informatics are two other huge areas. Particularly, computational pathology is tied into informatics. [39:35] Final Words of Wisdom Pathologists constantly encourage students to be interested in pathology. They're saddened by why U.S. grads are not turning to pathology as both a great career choice and a great lifestyle choice as well. They have many switchers to Pathology. So just try to get to know a pathologist. Call the lab director. Call the hematopathologist and ask if you can review the slides with them. There are insights that you can get that you cannot get just from reading a report. Understand what it is that you're seeing so you can understand the patterns. So when you're on a medicine rotation or a peds rotation, you can understand these things without necessarily going into Path. Links: Meded Media
Quizmasters Lee and Marc are joined by Juan Gomez of KING Entertainment, a 12 year veteran in the pub trivia industry. Juan brings a set of questions for the KnowNo squad, as well as stories of his history with trivia, insights into the professional aspects of running trivia events and his unique approach to writing questions for his players. The quizmasters also round-table on topics such as device usage, heckling, handling corrections from players in the room, maximum team size and more. Round One SPORTS ARENAS - State Farm Arena, formerly Phillips Arena, is the home of what NBA team? 19th CENTURY SLANG - In 19th century Britain,a ‘velocipede,’ or more colloquially a boneshaker, would refer to what object? GLOBAL TRADE - What two South American countries are part of OPEC? HOLLYWOOD - Based on U.S. Box Office, who is the highest grossing star of 2019 (so far)? SPORTS ICONS - What famous boxing referee was known for the catchphrase "Let's Get It On" and became a TV judge after retirement? ASTROLOGY - Which planet claims the title of ‘Planet of Dreams’? KnowNotes “How many women trivia hosts do you know who do what you do (create a local game)?” - Blair, Houston, TX Round Two SECRET SERVICE NICKNAMES - To John F Kennedy's “Lancer”, what was Jacqueline Kennedy's Secret Service nickname? DEATH STATISTICS - What is the #1 cause of death in National Parks? VIDEO GAME HISTORY - In what year was the Sega Genesis released in North America? CHEMISTRY - While it's official name is magnesium-iron silicate hydroxide, what is the common name of the mineral first identified in and named after Cummington, Massachusetts? BUSINESS - Tumblr was bought for 1.1 billion dollars by Yahoo, and was recently sold for how many millions of dollars? MIXOLOGY - What are the three main ingredients in a classic margarita? GEOGRAPHY - Minsk is the capital of what Eastern European country? Final Questions POP CULTURE - Which brand tops the list of best alcohol brands in the world for 2019? MUSIC - Who released the 1972 album Superfly? GROUPS OF ANIMALS - A murder of crows. A gaggle of geese. A prickle of porcupines. These classifications are known as Terms of what (a word that traces its origins to hunting in the Middle Ages)? Weekly Wrap Up August 12th, 2019 @ Palace - Spunk in the Trunk - 111 pts. August 13th, 2019 @ Gather - Tarpon Fat Cats - 70 pts. August 14th, 2019 @ Bury Me Brewing Co. - House Snow - 78 pts. August 15th, 2019 @ No. 3 Craft Brews & Beer Bar - The Moist & The Furious: Tokyo Drip - 77 pts. Upcoming LIVE Know Nonsense Trivia Challenges August 19th, 2019 – Cape Coral FL – 7:00 PM @ Palace Pub & Wine Bar. Categories include POKÉMON, LETTERKENNY, DOG BREEDS, ASTRONOMY, U.S. PRESIDENTS, EMO MUSIC, HERMAN’S HEAD, THE FILMS OF JUSTIN LONG & more. Final question category will be Nautical Terminology selected by last week’s biggest learners Team Turkey. August 20th, 2019 – Cape Coral FL – 7:00 PM @ Gather. NETFLIX, FOOTBALL, ART HISTORY, CLASSIC COUNTRY COOKING, GEMS, STATE CAPITALS, ICE CREAM FLAVORS and more. Final wager question category will be THE OFFICE selected by Dumb and Dumber (form. The Hot Ladies). August 21st, 2019 – Fort Myers, FL – 7:00 PM @ Bury Me Brewing Co. Categories for the quiz will include SATURDAY NIGHT LIVE, NORSE MYTHOLOGY, LORD OF THE RINGS, BEEKEEPING, RICK & MORTY, LETTERKENNY, 90’s HIP HOP and more. The final Know Nonsense wager question will be Edgar Allen Poe selected by ‘She-Ra and the Princess of Power.’ August 22nd, 2019 – Cape Coral, FL – 7:30 PM @ No. 3 Craft Brews & Beer Bar. Categories for the quiz will include MARINE BIOLOGY, CLASSIC CARS, SONG’s OF THE 80’s, REN & STIMPY, KING OF THE HILL, THE PRINCESS BRIDE, IRISH LORE, COSMETOLOGY, CYTOGENETICS & MORE . The final category that evening will be THE OFFICE selected by ‘Really Bad at Picking Names.’ Thank you Thanks to our supporters on Patreon. Thank you, Quizdaddies – Tommy (The Electric Mud) and Tim (Pat's Garden Service) Thank you, Team Captains – Kristen & Fletcher Thank you, Proverbial Lightkeepers – Dylan, Justin, Cooper, Elyse, Aaron, Sarah, Brina, Karly, Kristopher, Josh, Gil, Shaun, Lucas and Max Thank you, Rumplesnailtskins – Manu, Jeff, Eric, Steven, Efren, Mike J., Mike C. If you'd like to support the podcast and gain access to bonus content, please visit http://theknowno.com and click "Support." Special Guest: Juan Gomez.
Happy Genetic Counseling Match Day! Today we are celebrating the genetic counseling graduate program match day by discussing how to prepare and what to expect during the first year. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In a way this is a follow up episode from the application process discussions. If you are thinking about or planning on applying to genetic counseling grad schools check out those episodes. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. In episode 97, the panel discussed the second portion of the application cycle: interviews, ranking, and matching.On This Episode We Discuss:Classes to Take to Fulfill Prerequisites before EnrollingManaging the FinancesLoans, Financial Aid, Budgeting, and JobsExtra Steps for International StudentsHealthcare, Visa, MovingFinding Housing and RoommatesFirst Year ClassesRotationsDisability and Genetic CounselingThesisStudent Mentor ProgramThe PanelKarl Krahn is a first year genetic counseling student at Sarah Lawrence College. He earned his BS in Biology from the University of the Fraser Valley in Abbotsford, British Columbia, Canada at the end of 2017. During his undergraduate career, Karl performed research in bioethics at UFV and research on food systems in Nairobi, Kenya at Aga Khan University. He volunteered at a genetic counseling office and was a mentor for his community’s youth mentorship program. His professional interests include, oncology, variant research, and, his personal favourite, the murky waters of how athletic performance is intertwined with genetics.Maria van Noordenne is from British Columbia, Canada. She earned her BS in Psychology (with a Biology focus) and a minor in Statistics, as well as her MS in Cognition and Brain Sciences from University of Victoria in 2017. She spent time her time volunteering at a transition house crisis line and at medical genetics in Victoria General Hospital. She also worked as a crisis counselor at a youth shelter in addition to contracting research projects, including a few months in Nunavut, Canada. She is excited to be completing her first year of genetic counseling at Sarah Lawrence College.Ashlyn Enokian is a first year genetic counseling student from Brighton, Michigan. She earned her BS in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Her professional interests include fertility, neurogenetics, and strategies to increase diversity in the field. She acts as a student representative of Sarah Lawrence College’s Class of 2020 and is a genetics graphic design intern at My Gene Counsel.Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her in Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut, and has a certification as a cytogenetic technologist. Along with Ashlyn, she is a student representation in Sarah Lawrence College’s Genetic Counseling Class of 2020.Interested in getting in contact with a current student at a specific school? Shoot us an email (info@DNApodcast.com) and we will work our networks to connect you. Don’t hesitate, we love networking with fellow future genetic counselors!Stay tuned for the next new episode of DNA Today on May 3rd, 2019 with patient advocate and motivational speaker Seth Rotberg who shares his experience with Huntington Disease in honor of awareness month. New episodes are released on the first Fridays of the month and sometimes there are bonus episodes, like this one, on other Fridays! See what else I am up to on Twitter, Instagram, Facebook and iTunes. All questions, comments, and inquiries can be sent to info@DNApodcast.com.
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!On This Episode We Discuss:Overall Application TimelineSchools Applied vs Interviews Invites ReceivedPreparation Strategies for InterviewsA Typically Interview Day ScheduleTypes of Interview QuestionsMethods to Keep Track of Schools/InterviewsHow the Match System WorksFactors Used to Assess and Rank ProgramsReasons for Our Number 1 PickMatch OutcomesThe PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her acceptance into the Master of Genetic Counselling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counselling to Prince George, and serving the northern communities of British Columbia.Stay tuned for the next new episode of DNA Today on February 1st. As announced last month, the updated 2019 release schedule is new episodes on the first Friday of every month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Don’t forget to check out the first part of this conversation in episode 87 where we discuss how to gather the experience and classes to have a competitive application.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! Don’t hesitate, we love networking with fellow future genetic counselors. We look forward to seeing some of you at your interviews!
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful!The Incoming Genetic Counseling Student PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She is the Communications Lead at My Gene Counsel, a digital genetic counseling company. Kira is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. Kira is excited to be in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton will be a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her recent acceptance into the Master of Genetic Counseling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counseling to Prince George, and serving the northern communities of British Columbia.On This Episode We Discuss:Overall Application TimelineCost of our Application ProcessesPreparation for Applications & Helpful ResourcesPrerequisites, Extracurricular Activities & Recommended ExperiencesFinding Genetic Counselors to ShadowWriting the Personal StatementsLetters of Recommendation: How Many to Request & Who To AskDifferences Applying as an International Student (Outside US)Deciding Schools: Features to Focus on & Number to Apply toStay tuned for the next new episode of DNA Today on August 17th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you!
--- Support this podcast: https://anchor.fm/brad-richardson/support
--- Support this podcast: https://anchor.fm/brad-richardson/support
Dr Stock talks to ecancertv at ASH 2015 about results from a Children's Oncology Group study that looked at using a real-time disease classification protocol based on clinical, biologic and early disease response measures for childhood B-lymphoblastic leukaemia (ALL). The findings, presented by Dr Elizabeth Raetz of the University of Utah in Salt Lake City, USA, showed that the protocol could be used to identify children who may or may who may need intensified treatment after induction therapy. The study involved over 10,000 children of whom around 5,000 met National Cancer Institute criteria for standard risk ALL and 2,700 were deemed high risk at the end of induction therapy. A large subset of children was identified who had favourable cytogenetic profiles and rapid responses to treatment resulting in high overall survival at 5 years. This suggests that there could be some children who would not benefit from further chemotherapy intensification.
Dr Raetz presents, at a press conference at ASH 2015, results from the Children's Oncology Group report into genetic and response-based risk classification. It has identified a subgroup of NCI high risk childhood B-lymphoblastic leukaemia.
Listen as Dr. Richter will discuss the different technologies used to assess cytogenetic risk status in your myeloma patient.
Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders, http://www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte Keith is a Clinical Cytogeneticist from Edinburgh, Scotland. She works for the South East Scotland Genetics Service, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.
Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel will discuss advances in risk assessment, implications of scientific discoveries, epigenetic biomarkers and technological advances in screening, diagnosis and treatment of cancer as well as provide feedback about the public and patient perspective. Gene Editing: The CRISPR Revolution October 26th, 2016 at 6pm in the Dodd Research Center f UCONN Storrs, CT. Keynote speaker, Sharon Begley, the the senior science writer at STAT, the life sciences publication of the Boston Globe will be discussing the invention and evolution of the CRISPR-CAS9 technology. It seems as if the possibilities for CRISPR are endless: drought–resistant crops, disease resistant livestock, new drugs and a cure for cancer. How does this technology work? What are some of the current explorations of the gene editing technology? What are the limitations and the risks of its use? What ethical conversations need to be had by science, the public, policymakers? Prader-Willi Syndrome: New Epigenetic Findings and Potential Routes to Therap November 4th, 2016 at 2pm in the Henry B.C. Low, M.D. Learning Auditorium at UCONN Health in Farmington, CT. The keynote speaker will be Marc Lalande, Ph.D., Health Net Professor and Chairman from the Department of Genetics and Genome Sciences, UConn Health.
We’re guessing you know who Albert Einstein and Isaac Newton are, and maybe you’re even familiar with Linus Pauling or Roald Hoffmann. But it turns out that a lot of people can’t name a single female scientist besides Marie Curie. Exasperated by this fact, radio producer Poncie Rutsch made a podcast she titled Babes of Science. The show profiles accomplished scientists from history who also happened to be women. We became such fans of the show that we decided to create a special Babes of Science and Distillations collaborative episode. In it Rutsch profiles Barbara McClintock, a cytogeneticist who discovered transposons, or “jumping genes,” and whose radical ideas made it hard for her to gain acceptance in the field. Show Clock: 00:04 Intro 01:46 Babes of Science: Barbara McClintock 14:37 Interview with Poncie Rutsch Credits: Hosts: Michal Meyer and Bob Kenworthy Guest: Poncie Rutsch Reporter: Poncie RutschProducer: Mariel Carr Associate Producer: Rigoberto Hernandez These songs courtesy of Free Music Archive: A Way to Get By, Scott Grattonpiano lesson, The RebelGolden, Little Glass MenLittle Strings, The LosersDivider, Chris ZabriskieModulation of the Spirit, Little Glass MenSpontaneous Existence, Little Glass MenPieces of the Present, Scott Gratton Additional music courtesy of the Audio Network.
Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 05/06
This study involved the combination of molecular-cytogenetic data and phylogenetic approaches to infer pathways by which chromosome numbers and sizes may have changed during the course of evolution. The two systems for which I generated new data are the monocot plant family Araceae and Coccinia, a genus of Cucurbitaceae. Araceae have about 3800 species in 118 genera, and chromosome numbers range from 2n = 168 to 2n = 8, the latter the lowest number so far and newly reported in my study. The small genus Coccinia includes C. grandis, with the largest known Y chromosome in plants, as documented in my work. The thesis comprises four published or submitted papers. The first paper reports the result of phylogenetic modeling of chromosome number change along a phylogeny for the Araceae with 113 genera represented. I used a maximum likelihood approach to find the most likely combination of events explaining today’s chromosome numbers in the 113 genera. The permitted events were chromosome gains (i.e. breaks), losses (i.e. fusions), doubling (polyploidization), or fusion of gametes with different ploidy. The best-fitting model inferred an ancestral haploid number of 16 or 18, higher than previously suggested numbers, a large role for chromosome fusion, and a limited role of polyploidization. The sparse taxon sampling and deep age (at least 120 Ma) of the events near the root of Araceae caution against placing too much weight on “ancestral” numbers, but inferred events in more closely related species can be tested with cytogenetic methods, which I did in two further studies (papers 2 and 3). I selected Typhonium, with 50-60 species, a range of 2n = 8 to 2n = 65 chromosomes. The family-wide study had suggested a reduction from a = 14 to 13 by fusion in Typhonium, but had included relatively few of its species. I built a phylogeny that included 96 species and subspecies sequenced for a nuclear and two chloroplast markers, and then selected 10 species with 2n = 8 to 24 on which to perform fluorescence in situ hybridization (FISH) with three chromosomal probes (5S rDNA, 45S rDNA, and Arabidopsis-like telomeres; paper 2). The results supported chromosome fusion in two species where I found interstitially located telomere repeats (ITRs), which can be a signal of end-to-end fusions, and polyploidization in one species where I found multiple rDNA sites. I then extended my cytological work to other lineages of Araceae, selecting 14 species from 11 genera in key positions in the family phylogeny, which I enlarged to 174 species, adding new chromosome counts and FISH data for 14 species with 2n = 14 to 2n = 60 (paper 3). With the new data, I confirmed descending dysploidy as common in the Araceae, and I found no correlation between the number of rDNA sites and ploidy level (which would have pointed to recent polyploidy). I detected ITRs in three further species, all with 2n = 30. I also discovered gymnosperms-like massive repeat amplification in Anthurium. Similar ITRs are only known from Pinus species. Paper 4 presents molecular-cytogenetic data for Coccinia grandis, one of a handful of angiosperms with heteromorphic sex chromosomes. The male/female C-value difference in this species is 0.09 pg or 10% of the total genome. My FISH and GISH results revealed that the Y chromosome is heterochromatic, similar to the Y chromosomes of Rumex acetosa, but different from the euchromatic Y chromosome of Silene latifolia; it is more than 2x larger than the largest other chromosome in the genome, making C. grandis an ideal system for sequencing and studying the molecular steps of sex chromosome differentiation in plants.
Fakultät für Biologie - Digitale Hochschulschriften der LMU - Teil 05/06
Tue, 5 Nov 2013 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/16533/ https://edoc.ub.uni-muenchen.de/16533/1/Chacon_Pinilla_Juliana.pdf
Listen to cytogenetics and genomics expert Dr. Rafael Fonseca, MD of the Mayo Clinic in Scottsdale share the latest in his myeloma research and his open clinical trials.
Listen to cytogenetics and genomics expert Dr. Rafael Fonseca, MD of the Mayo Clinic in Scottsdale share the latest in his myeloma research and his open clinical trials.
The independent evolution of heteromorphic sex chromosomes in 19 speciesfrom 4 families of flowering plants permits studying X/Y divergenceafter the initial recombination suppression. Here, we documentautosome/Y divergence in the tropical Cucurbitaceae Coccinia grandis,which is ca. 3 myr old. Karyotyping and C-value measurements show thatthe C. grandis Y chromosome has twice the size of any of the otherchromosomes, with a male/female C-value difference of 0.094 pg or 10%of the total genome. FISH staining revealed 5S and 45S rDNA sites onautosomes but not on the Y chromosome, making it unlikely that rDNAcontributed to the elongation of the Y chromosome; recent end-to-endfusion also seems unlikely given the lack of interstitial telomericsignals. GISH with different concentrations of female blocking DNAdetected a possible pseudo-autosomal region on the Y chromosome, andC-banding suggests that the entire Y chromosome in C. grandis isheterochromatic. During meiosis, there is an end-to-end connectionbetween the X and the Y chromosome, but the X does not otherwise differfrom the remaining chromosomes. These findings and a review of plantswith heteromorphic sex chromosomes reveal no relationship betweenspecies age and degree of sex chromosome dimorphism. Its relativelysmall genome size (0.943 pg/2C in males), large Y chromosome, andphylogenetic proximity to the fully sequenced Cucumis sativus make C.grandis a promising model to study sex chromosome evolution.
Although gemtuzumab ozogamicin has been withdrawn from the marketplace, three randomized trials prompt review of that decision.
Research collaboration between Randa El-Zein, Ph.D. of MD Anderson and Rice University’s McDevitt Research Laboratory to develop an automated version of the cytogenetic assay using a lab on a chip platform to identify high risk smokers.
Research collaboration between Randa El-Zein, Ph.D. of MD Anderson and Rice University’s McDevitt Research Laboratory to develop an automated version of the cytogenetic assay using a lab on a chip platform to identify high risk smokers.
American geneticist Barbara McClintock won a Nobel for her pioneering work on genetic transposition. Chosen by Dr Hilary MacQueen, Head of the Department of Life Sciences at The Open University.
Transcript -- American geneticist Barbara McClintock won a Nobel for her pioneering work on genetic transposition. Chosen by Dr Hilary MacQueen, Head of the Department of Life Sciences at The Open University.
I grew up in Massachusetts and went to college in Marietta, OH (BS in Biology). Went on to study Medical Technology then got drafted and sent to Vietnam. Received a Bronze Star for my duty. Returned and finished my studies as a medical technologist. Opened and operated a Cytogenetics laboratory in Washington, DC, Moved to Houston in 1978 to be Dir of Membership Development for ASMT. In 1981 entered the insurance field and am still an active agent. I found Isagenix 3 years ago and it made such an impact on my life that I now share it with everyone.
Background: The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results: We developed a simplified computer readable cytogenetic notation (SCCN) by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS). The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive) acute lymphoblastic leukemia ( ALL) and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting ( peri) centromeric chromosome regions were recorded in 24.6% of the cases. Conclusions: SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.
Tierärztliche Fakultät - Digitale Hochschulschriften der LMU - Teil 01/07
The aim of this work was to describe the importance of the estimation of the quality of cattle embryos in embryo transfer as well as to discuss the causes of the appearance of the variable embryo qualities after superovulation and the different possibilities to assess the embryo quality. After superovulation there are always variable embryo quality observed. The reasons for this are versatile. An important, the result of a superovulation treatment influencing factor, is the donor cow. Both the individual disposition, the age and as well healthy status and the stressexposition of the animals are playing an important role. The ovary reactions are rather essentially influenced by the existence of a dominant follicle at the moment of introduction of a superovulation treatment. By removal of dominant follicle the results can significant be improved. Another important factor is the sort of a gonadotrophin used for superovulation. The reaction to a superovulation treatment is not just depending on the selection of the gonadotroph hormone, but also on the composition of the preparations, the doses und the way of application. Because the morphological evaluation of embryo quality is subjected to subjective influences, it should attach importance to the training of the evaluating persons, to receive comparable results. The importance of assessment of embryo quality to select embryos is considerable. The results of embryo transfer, the pregnancy rates, are essentially depending on the quality of the transferred embryos. The survival of embryos after kryopreservation is also influenced by the embryo quality. Embryo quality can be evaluated by different approaches: if the selected embryo has to be transferred, the technique to estimate embryo quality must not be invasive. In the practice of the embryo transfer embryo quality is estimated before transfer by gross embryo morphology. However, this method is a rather subjective possibility for assessment of the embryo quality. More accurate date can be obtained by the use of invasive techniques. Metabolic tests to evaluate embryo viability include measurement of nutrient uptake, energy metabolism and oxygen uptake. Enzyme leakage and hormone or growth factor production can also give more details on the quality of embryos. Techniques which might partially are able to affect the embryo are the determination of the freezing resistance and vital staining. With vital staining, membrane integrity, which is critical for embryo survival, can be assessed by means of fluorescent probes. The most common staining methods for evaluating embryo quality are DAPI and FDA. These two fluorescent probes do not alter the embryo, so that you can still transfer the embryo after these examinations. Invasive assessment of the embryo quality mostly involves a kind of fixation or staining of the embryo and so they are not suitable for the practical use of the embryo transfer. Cytogenetic analysis of embryos is an important issue for caryotyping. Chromosomal deviations are known to cause early embryonic mortality in cattle. Determination of the total cell number and the allocation of these cells to the inner cell mass (ICM) and trophectoderm (TE) after differential staining of these cells give more details on the quality of an embryo.
Sat, 1 Jan 1994 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9393/1/9393.pdf Cremer, Thomas; Speicher, Michael R.; Lengauer, Christoph ddc:610,
Fri, 1 Jan 1993 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9386/1/9386.pdf Ward, D. C.; Cremer, Thomas; Fischer, C.; Lipp, Martin; Lengauer, Christoph; Ried, Thomas
We present a technique which allows the detection and chromosomal localization of DNA sequence copy number changes in solid tumor genomes from frozen sections and paraffin embedded, formalin fixed specimens. Based on comparative genomic hybridization and on universal DNA amplification procedures this technique is possible even if only a few tumor cells are available. We demonstrate the feasibility of this method to visualize complete and partial chromosome gains and losses and gene amplifications In archived solid tumor samples.
The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.
A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2. Alu-PCR-generated human DNA sequences were obtained from the respective YAC clones and used for fluorescence in situ hybridization experiments under suppression conditions. After chromosomal in situ suppression hybridization to GTG-banded human prometaphase chromosomes, seven of nine initially isolated YAC clones yielded strong signals exclusively in the chromosome bands containing the respective genes. Two clones yielded additional signals on other chromosomes and were excluded from further tests. The band-specific YACs were successfully applied to visualize specific structural chromosome aberrations in peripheral blood cells from patients with myelodysplasia exhibiting del(5)(q13q34), chronic myeloid leukemia and acute lymphocytic leukemia with t(9;22)(q34;q11), acute promyelocytic leukemia (M3) with t(15;17)(q22;q21), and in a cell line established from a proband with the constitutional translocation t(3;8)(p14.2;q24). In addition to the analysis of metaphase spreads, we demonstrate the particular usefulness of these YAC clones in combination with whole chromosome painting to analyze specific chromosome aberrations directly in the interphase nucleus.
Wed, 1 Jan 1992 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9403/1/9403.pdf Cremer, Thomas; Cremer, Christoph
Sat, 1 Jun 1991 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9780/1/stief_christian_9780.pdf Jonas, Udo; Schlick, R. W.; Djamilian, Mohamad H.; Stief, Christian Georg; Kirchner, H.; Azpodien, J.; Werner, M.; Allhoff, E. P.; Riese, W. de ddc:610
DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY; +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7;13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone.
Mon, 1 Jan 1990 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9401/1/9401.pdf Cremer, Thomas; Jauch, Anna; Emmerich, Patricia; Walt, H. dd
Sun, 1 Jan 1989 12:00:00 +0100 https://epub.ub.uni-muenchen.de/9331/1/9331.pdf Walt, H.; Cremer, Thomas; Hofmann, M. C.; Jauch, Anna; Emmerich, Patricia
Asynchrononously growing cells of a M3-1 Chinese hamster line were ultraviolet (UV) irradiated ( = 254 nm) with UV fluences up to 7.5 J/m2. After irradiation, cells were incubated with or without 2 mM caffeine for 20 hr, then mitotic cells were selected by mechanical shaking. Their chromosomes were isolated, stained with Hoechst 33258 and chromomycin A3, and measured flow cytometrically. While the fluorescence distributions of chromosomes (flow karyotypes) from cells treated with UV alone or with caffeine alone were very similar to those of untreated controls, the flow karyo-types of UV + caffeine-treated cells showed a debris continuum that increased with increasing UV fluence suggesting an increased number of chromosome fragments. Visual evaluation of metaphase plates revealed that the percentage of cells with chromosome damage also increased steadily with increasing UV fluence. A high degree of correlation was observed between the relative magnitude of the debris level from flow karyotypes and the percentage of cells with chromosome damage and with generalized chromosome shattering, respectively, as determined from metaphase spreads.