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 tweetcha...
Feb 29, 2016•27 min
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!
Feb 22, 2016•17 min
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.
Jan 25, 2016•28 min
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 f...
Jan 18, 2016•23 min
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 ge...
Jan 02, 2016•21 min
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, ho...
Nov 05, 2015•22 min
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!
Oct 19, 2015•21 min
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.
Sep 28, 2015•30 min
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.
Aug 31, 2015•25 min
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 ...
Aug 24, 2015•29 min
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 Schw...
Aug 17, 2015•31 min
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 metho...
Jul 20, 2015•28 min
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.
Jul 10, 2015•28 min
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 ...
Jun 22, 2015•32 min
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 Micro...
May 25, 2015•31 min
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; h...
Apr 20, 2015•27 min
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....
Apr 13, 2015•28 min
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.
Apr 06, 2015•26 min
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.
Mar 23, 2015•25 min
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.
Mar 02, 2015•34 min
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 sowalker@uchc.edu for any questions. Visit rarediseaseday.us, r...
Feb 19, 2015•34 min
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 No...
Feb 16, 2015•30 min
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.
Feb 02, 2015•26 min
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.
Jan 27, 2015•28 min
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.
Jan 12, 2015•31 min
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.
Jan 05, 2015•28 min
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.
Dec 22, 2014•29 min
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.
Dec 15, 2014•27 min
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.
Dec 01, 2014•27 min
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.
Nov 24, 2014•26 min
