DNA Today: A Genetics Podcast

The Hole in the Wall Gang Camp is dedicated to providing “a different kind of healing” to seriously ill children and their families throughout the Northeast, free of charge. It’s a community that celebrates the fun, friendship and spirit of childhood, where every kid can “raise a little hell.” Former camper and current camp counselor, Ester Wasserman shares the magic of camp, how it was founded, what it offers campers and her own experience through the years.

CRISPR is a genetic editing technology that will change the future of genetics. In the past 3 years it has been used in labs throughout the world. It has the potential to fix point mutations and larger mutations in our genome. Diseases caused by point mutations include Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sachs disease. More complex conditions such as cancer, HIV or autism could be cured if the RNA gene editing is developed further. On March 16th, 2016, it was published that RNA was successfully targeted for the first time. This is just the beginning of CRISPR. Listen to hear how CRISPR works and how it was discovered. Get the inside scoop on the current research, ethics, politics, and patents.

March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25!

Jackson Laboratories held The Bioscience Career Forum II: Women in Biosciences on March 11, 2016 at it's newest location on UCONN Health’s campus in Farmington, CT. The Forum centered on recruiting and retaining women in the biosciences. Women leaders in the bioscience industry discussed what it takes to enter Connecticut's most rapidly developing sector. Topics included equalizing the the gender gap in the biosciences, vital skill acquisition and training, the importance of networking and finally, how to land job. Speakers included.... Ellen Matloff is the former director of Yale's Cancer Genetic Counseling program and current CEO and president of My Gene Counsel. Her keynote address focused on society’s impact on girls and women pursuing careers in the biosciences. Dr. Albert Cheng, Assistant Professor, JAX-GM, presented on CRISPR –Cas9 Genome Editing Technologies. A panel of women in the bioscience field discussed being a women in the field and answered students questions. Dr. Susan Mockus, Manager, Clinical Analytics and Curation, The Jackson Laboratory for Genomic Medicine Dr. Espy Anguiano, Senior Manager, Genome Technologies Operations, The Jackson Laboratory for Genomic Medicine Dr. Kimberly Dodge-Kafka, Associate Professor, Department of Cell Biology, UConn Health Dr. Barbara Kream, Professor of Medicine and Genetics & Genome Sciences, and Associate Dean of the Graduate School, UConn Health Moderator: Melanie Sinche, M.Ed., NCC, Director of Education, The Jackson Laboratory for Genomic Medicine.

February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd. Join the rare disease tweetchat March 1st, 2016 at 1pm ET using the hashtag, #abcDRBchat.

Dr. Caroline Dealy returns to the show to discuss the UCONN-TIP (Technology Intern Program). She is the founder and director of the program. UCONN-TIP pairs UConn students with university start-up companies for mentored research internships in business or STEM. She shares what kind of research experience can students anticipate and how it can help in your career. You can read more about the program and apply. Submit your application soon, the deadline is March 7th, 2016!

On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum, that only shows up at a rate of one in a million in the general population however on the Navajo Reservation they live on where the frequency is 1 in 20,000.

In his book, Misha Angist takes you through his experience as the fourth subject in the Personal Genome Project, George Church’s ambitious plan to sequence the entire genomic catalog: every participant’s twenty thousand–plus genes and the rest of his or her six billion base pairs. He shares his thought process on deciding to be a participant and contemplates the advantages and disadvantages. This journey takes you through Angist discovering his variants and what disease he was at a higher risk for.

Rebecca Skloot, best-selling author, has published an article, "Your Cells. Their Research. Your Permission?", in it she urges the public to voice their opinions whether permission should be required by scientists to use people's cells for research. She poses the following questions for the public to comment on on a government website, but do it fast because it closes January 6th, 2016. “Should scientists have to ask permission to use all leftover clinical samples? Would you say yes? Is broad general consent enough, or do you want options for more control? Why? Should this apply to both tissues and genetic information, anonymous or not? And what if this slowed scientific progress?” Need more information to form your opinion? Check out this one page summary and videos from the Department of Health and Human Services.

I recap the UCONN BRCA event I MCed. It featured a panel of experts including a Certified Genetic Counselor (Robin Schwartz, featured below), members of the department of Public Health Genomics Advisory, Physicians and Cancer survivors. There was an interactive presentation about family history tool, education, and cancer genomics best practices. There was a discussion with medical personnel and patients about identifying risk factors for hereditary breast and ovarian cancer, genetic testing, how to find qualified genetic personnel, sharing a BRCA diagnosis, and ethical issues surrounding genetic testing.

It’s October and that means it National Awareness for many cancers, disorders and diseases. I discuss some of these giving a 101 lesson on the diseases such as breast cancer and liver cancer. Don't forget to attend the BRCA event, "Understanding Risk for Breast and Ovarian Cancers: A Discussion for Students as Consumers & Future Healthcare Provider". It is happening here at UCONN Storrs!

UCONN hosted a free event honoring Henrietta Lacks on September 24th, 2015 at The Jorgensen Center for the Performing Arts. The bestselling author of the book, The Immortal Life Of Henrietta Lacks, Rebecca Skloot presented as well as members of the Lacks family. This episode recaps the event and features an interview with descendents of Henrietta Lacks, Kimberly Lacks, granddaughter, and Veronica Spencer, great-granddaughter.

What are syndromes that elevates one’s risk for developing cancer? There are many different conditions, this episode highlights Cowden’s Syndrome, Lynch Syndrome and Li-Fraumeni Syndrome. I cover information such as what the syndrome is, how it increases risk of cancer, how prevalent it is, how it is inherited, and what genes are involved.

Dr. Caroline Dealy of UCONN Health gives an inside scoop about her research on the development of the human skeleton. This regenerative research involves human embryonic and induced pluripotent stem cell. Dr. Dealy explains the role of genetics in these stem cells. She shares her insight on these incredible potential medical treatments for people that have lost limbs. We also discuss her role as the director of the Skeletal, Biology and Regeneration Graduate Program and what she is teaching her students in anticipation of how this field is changing.

Robin Schwartz shares her experience as a hereditary cancer genetic counselor. As a genetic counselor for over 30 years she has seen many changes in the field and provides an inside scoop. She provides information to patients who are interested in genetic counseling and how patients can prepare for a genetic counseling meeting. We discuss red flags for hereditary cancer, genetic testing, and how insurance coverage works with the cost of these services. Check out nsgc.org, mentioned by Robin Schwartz, to learn more about genetic counselors.

10 women who made major contributions to the fields of microbiology and genetics are recognized. Rosalind Franklin provided key evidence for the structure of DNA. Nettie Stevens supported her hypothesis that a fetus’s sex was determined by chromosomes, not environment. Barbara McClintock discovered mobile genetic elements. Salome Gluecksohn Waelsch founded the field of developmental genetics. Esther Lederberg discovered the lambda phage, worked on the F fertility factor, and, developed the method of replica plating. One theme throughout this episode is how little credit these women recieved for their work.

A review of a Precision Medicine Initiative presentation at Jackson Laboratory Genomic Medicine in Farmington, CT. by Dr. Jo Handelsman. Also on July 10th the 21st Century Cures Act passed in the House of Representatives, the advantages and disadvantages are explored if this is passed in the Senate.

Maddie Shaw is an active advocate with the Immune Deficiency Foundation and has a Primary Immune Deficiency Disorder (PI). She is also the Founder & Leader of Maddie’s Herd. Maddie's Herd raises awareness and research funds ($22,000 so far of her $50,000 goal!) for the ImmunoDeficiency Foundation (IDF) as 1000s of Americans are battling immunodeficiency disorders through prolonged diagnosis. Maddie is teaching doctors to "Think Zebra" when they hear hoofs. Like Maddie's Herd on Facebook to stay up to date. Don't forget to get your very own Maddie's Herd T-shirt and bracelet, both of which Ed Sheeran owns, he even wore his bracelet while playing on stage!

Dr. Klassen shares his research with fungus-growing ant symbiosis to understand how microbial interaction evolves. He explains how relevant genetics is in his research as well as other research he has done involving gene fragmentation, phylogenetic analysis and drafting genome sequences. We discuss how genome sequencing works and how the technology has advanced in the last 10 years. The device we refer to in the episode is seen below! He explains what students can expect in his spring 2015 Microbial Genomics course (MCB 3895-004). Dr. Klassen is an Assistant Professor at UCONN. He received his PhD in Microbiology and Biotechnology, University of Alberta and his Postdoctoral Study in the Department of Bacteriology, University of Wisconsin-Madison. He has his own lab in UCONN Storrs campus, Klassen Laboratory. Learn more on jonathanklassenlab.com and follow their activities on Twitter @KlassenLab.

Plugging Away at Leaks in the Public Health Dike: Infectious Disease - Ebola and the Rest. This event was sponsored by the UCONN Student Chapter of the American Society for Microbiology and featured 2 speakers. Dr. Richard Melchreit is the Healthcare Associated Infections Program Coordinator at the CT Department of Public Health. He discussed the hosts of infectious disease challenges facing public health today. He discussed the concerns and pandemic influenza, outbreaks for foodborne disease; healthcare associated infections; and antimicrobial-resistant pathogens (such as MRSA, drug-resistant TB and CRE) Dr. Randal Nelson, DVM, CT State Public Health Veterinarian expanded upon Dr. Melchreit’s ideas as well as talked about zoonoses. Dr. Rob Knight from Pediatrics and Computer Science and Engineering of University of California presented on the Dynamics of the Human Microbiome. I share a few points he made during his presentation that shows just how powerful the microbiome in all of us.

Georgia Hurst (@ShewithLynch), Amy Byer Shainman (@BRCAresponder), and Ellen Matloff (@MyGeneCounsel) are involved in raising awareness for Hereditary Cancer by holding the #Hcchats (@Hc_chat) on Twitter. You can catch the next Tweetchat April 29th at 9pm ET with special guest Dr. Sharon Bober (@DrSharonBober), an expert in sex after Oophorectomy or Hysterectomy. Georgia Hurst shares her and her family's experience having Lynch Syndrome and how she started her non-profit, IHaveLynchSyndrome.com. Amy Byer Shainman describes her documentary, Pink and Blue, and being a BRCA1 positive previvor. Ellen T. Matloff is the President and CEO of MyGeneCounsel and shares her insight on the importance of understanding genetic testing and genetic counseling and we all weigh in on Angelina Jolie's impact on both.

News stories include a very bizarre story about Gabriele D’Annunzio, a dead national war hero whose DNA was reconstructed. New advances in treatments for the most common form of muscular dystrophy, myotonic dystrophy. The last story is about a biotech company, GenomeNext, that has achieved analyzing genomes at the speed of 1,000 per day.

The 100,000 Genomes Project has commenced. Genomics England is heading the project which has plans to sequence 100,000 whole genomes from NHS patients by 2017. This project aims to bring benefit to patients, create an ethical and transparent programme based on consent to enable new scientific discovery and medical insights and kickstart the development of a UK genomics industry.

Presentations at the Rare Disease Day 2015 are recapped. Presentors include Dr. Anton Alerte, Juliet and Tara Lynn, Dr. Caroline Dealy and Ethan Talbot. Check out joshuafrase.org, Favafoundation.org, and rarediseases.org for more information.

Attend the Rare Diseases Awareness Event 2015 at UCONN Health Center on February 25th. Sophia Walker explains the celebration of individuals who have rare diseases and the many researchers and physicians who are fighting to find cures for these conditions. Listen to patients, doctors, and students share their experiences and learn about rare diseases! Everyone is welcome and the free event is geared towards the general public. Email [email protected] for any questions. Visit rarediseaseday.us, rarediseaseday.org and rarediseases.org for more information.

This episode features an interview with Noel Lloyd who is the communications manager from the Alliance for Aging Research. The Alliance for Aging Research is the leading nonprofit organization dedicated to accelerating the pace of scientific discoveries and their application to vastly improve the universal human experience of aging and health. Noel explains how the Alliance advances science and enhances lives through education campaigns and working with legislation. You can read the blog post Noel references about Obama's Precision Medicine Initiative that I discussed last episode of DNA Today along with the 21st Century Cures Initiative blog post. Check out the nonprofit on their website, agingresearch.org, and follow their activties on Twitter @aging_research.

President Barack Obama proposed the Precision Medicine Initiative. It has a $215 million investment in the President’s 2016 Budget. This initiative focuses on the making major advances in personalized medicine. This means tailoring the treatments based on specific characteristics of individuals, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor.

Researchers have identified a genetic mutation accountable for a metabolic disease among Inuits in northern Canada. New research has provided new insight into fragile X syndrome, learn more about the syndrome at fragileX.org. January is National Birth Defect Month! I go over the CDC's top 10 most common birth deffects in the US. Prevention of birth defects is presented.

All about genes! New study finds gene variants may be a contributor to PTSD. New genes have also been discovered to be linked to triple-negative breast cancer. Scientists have successfully used light to trigger REM sleep in mice.

First news story is about research on how genetics can affect the brain and therefore behavior. Another study has been published regarding the mechanism that regulates dopamine levels in the brain, which all comes down to one gene. Last news story is about DNA traveling into space.

A study finds meditating cancer patients are able to affect the makeup of their DNA, hear how they are able to do this. Learn about the Klinefelter Syndrome, which is the presence of an extra X chromosome in males.

A lesson on what epigenetics is. A news story reveals that long-term endurance training alters the epigenetic pattern of the human skeletal muscle. Dr. Brian Chadwick, Assistant Professor of Biological Science at Florida State University, presented his research of X chromosome inactivation at UCONN and I give the highlights and share how it relates to epigenetics.

A plant has more foreign DNA, than its own DNA, how is that possible? A new DNA reading device was developed that is a thousands of times smaller than width of a single human hair. How might his change personalized medicine? The effects of caffenine on embryos are explored.

The event, The Drama of DNA is recapped. It was an enactment of genetic testing sessions and interactive discussion of fictional and real-life drama in the world of genetics. In the news, scientists discover new gene for devastating form of epilepsy. The event and news story both focus on whole genome sequencing.

Dr. Charles Lee, the scientific director at JAX Genomic Medicine, skyped my genetics class today, so I recap what he shared including the question of mine he answered. Members of the UCONN Genetic Engineering Team join the show. They discuss attending the International Genetically Engineered Machine annual competition. This competition gives students a chance to modify an organism that can help society solve some of the problems facing us today. Join them at their meetings 7pm in the UCONN Student Union room 322. Any questions can be directed to jeffrey.o'[email protected] or [email protected].

A summary of Cornell University's Dr. Andrew Grimson's "The Messenger's Tale: Decoding the 3'UTR" presentation at UCONN starts the show. Highlights from Cleveland Clinic's Medical Innovation Summit are innovations in cancer therapy. New research supports the idea that specific groups of microbes living in our gut could be protective against obesity - and that their abundance is influenced by our genes. A new study finds people with a variant in the CETP gene may survive the longest.

Dr. Rachel O’Neill is the Director of the Center for Genome Innovation. She is also a professor and head of Genetics and Genomics in the Department of Molecular and Cell Biology at the University of Connecticut. We discuss her laboratory which researches molecular genetic and cytogenetics techniques to study centromere determinance. Dr. O'Neill shares her findings in DNA contamination and species-specific placental development and evolution. She gives insight on how UCONN and Jackson Laboratory is contributing to genetics. Learn more about Dr. Rachel O'Neill and her laboratory on her website, Roneill.lab.uconn.edu.

A recap of the pigeon genetics presentation from Mike Shapiro kicks off the show. An interview with Denise Anamani, the Academic Coordinator of Laboratory Education for the students in the Diagnostic Genetic Sciences Program at University of Connecticut. News stories include the epigenetic impact of binge drinking and the number of genes found to be associated with height.

This episode is dedicated to gene therapy. A lesson kicks off the show on gene therapy followed by a presentation of both sides of the debate whether this gene therapy is ethical and worth pursuing as a treatment. Two news stories show the advancements of gene therapy today in research. Discovered a gene mutation that causes rare premature aging disease called dyskeratosis congenita. Long-term treatment success using gene therapy to correct a lethal metabolic disorder has been reached.

The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month.

News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored.

Search Links edit widget html Tweets Did you know the tumor suppressor #gene, #TP53 is seen in about 50% of #cancers? Did you know it's estimated that 30% of all existing global data is #healthcare related? #bigdata What does role does #genetics play in stress and #heartconditions? I explore the research published: https://t.co/ze3H6LBvHf Biology + computers = #bioinformations. Check out what the field consist of in this podcast episode: https://t.co/983UwN8539 Live NOW > http://t.co/8cwVrcvMQs How many gene #genes are associated with #height? Find out on this #podcast episode: http://t.co/xLU3uoVjYu #TBT 1 year ago > The Grand Opening of @jacksonlab for #Genomic Medicine. My show review of the initial conference: http://t.co/xWKu596ibZ What is the effects of #caffeine on #embryos? I explore on this episode of #DNA today? http://t.co/nlhBXEjNRU Older Follow @DNApodcast post new entry #6 JACKSON LABORATORIES FOR GENOMIC MEDICINE OPENING 10/13/14 DateMONDAY, OCTOBER 13, 2014 AT 01:44PM modify remove organize post follow up The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagJACKSON LABORTARIES IN CategoryFULL EPISODE, CategoryWHUS #5 NEW METHOD OF DNA ANALYSIS 10/6/14 DateMONDAY, OCTOBER 6, 2014 AT 02:26PM modify remove organize post follow up News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagHUNTINGTON’S DISEASE IN CategoryFULL EPISODE, CategoryWHUS #4 SCHIZOPHRENIA, 8 DISORDERS 9/29/14 DateMONDAY, SEPTEMBER 29, 2014 AT 03:33PM modify remove organize post follow up Dr. John Malone, a professor at UCONN in the Department of Molecular and Cell Biology, presented his research for students which I recap. I plug the grand opening of Jackson Laboratories in Farmington, CT, Jackson Laboratory for Genomic Medicine on October, 8th 2014. Major news story is the new research that Schizophrenia has been revealed to be 8 genetically distinct disorders. Background information on Gregor Mendel is shared. The genetic disorder of the week is Cystic Fibrosis which is explained on the show.

Researchers may have found a gene that has the power to slow the aging process by targeting specific genes. A method to keep stem cells in their pluripotent state for longer was also discovered. Scientists have claim to idenitify the gene that causes Emery-Dreifuss muscular dystrophy which is an incurable muscle-wasting disease. Feature genetists of the week are the duo James Watson and Francis Crick. Genetic disorder of the week is Down Syndrome.

A new inherited neuromuscular disorder has been discovered. Rosalind Franklin's contribution to the discovery of the structure of DNA is explored, her role may be bigger than you think. A lesson of personalized medicine is taught covering the basics of the concept.

News stories are covered with the most major being the announcement of Google Baseline, a projected aimmed to understand the genetics behind a healthy person. The first International Genetic Genealogy Conference took place August 15-17. A mutated gene has been discovered that allows humans to survive at a high altitude.