DNA Today: A Genetics Podcast

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 sowalker@uchc.edu 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.