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.