Cool New Method for Preventing the Transmission of mtDNA Diseases from Mother to Offspring
Mitochondrial DNA (mtDNA) is comprised of 16, 596 base pairs that code for 37 genes. It is housed in our mitochondria (separate from nuclear DNA), and is inherited only from our mothers. Mutations can occur in mitochondrial DNA, like it does in the DNA we typically think about: 400 of these are mutations are known to cause disease. These diseases can present at any age, and get progressively worse (as the cells that have the mutated mitochondria multiply). Currently, there are no approved treatments for mtDNA diseases- only symptom management treatments exist.
If a woman who has acquired a mtDNA disease wishes to have children, she must currently accept the high risk of her offspring also having the disease in a serious form. Instead of targeting mutated DNA for the destruction in the mother (which can be done in the lab, but currently lacks a safe delivery method), scientists intend to eliminate the possibility of the offspring getting the disease. They intend to do this via MRT: Mitochondrial Replacement Techniques. These techniques involve either placing the meotic spindle (secondary oocytes arrest at metaphase II) into a donor cell with healthy mitochondria, or placing a pronucleus (fertilized meotic spindle) into such a cell. This prevents transmission of the mtDNA disease from mother to offspring
Many questions regarding long-term safety of the treatment still exist, but case-by-case trials are already approved in the UK. With FDA and professional organization cooperation, such trials are expected to come to the US very shortly.
Fight the Opioid Crisis: Educate yourself on the CDC’s New Guidelines for Prescribing Opioids
Some not so fun facts: 1 in 550 patients in a recent study who are prescribed opioids to control pain died from their treatment within 2.6 years. In some subsets of this general population, the rate was as high as 1 in 32. This is an unacceptable figure. Opioids are used to control many forms of pain, including long-term pain. This has led to high rates of addiction and overdose on legally prescribed opioids, illegally obtained opioids, and on illicit opioids like heroin and homemade fentanyl.
Change is needed. As such, the Centers for Disease Control and Prevention (CDC) has recommended new guidelines based on the following three principles: (1) Nonopioid treatment is preferred for chronic pain. Opioids risks have been proven, but their benefits are not evident for chronic pain patients. (2) When opioids are used, “start low and go slow”. Prescribe the lowest effective dose and only increase by minimal amounts when absolutely necessary. (3) Exercise caution and monitor patients closely.
Please carry this information with you into your future life and clinical practice.
Tips On How to Make The Most Of Your Research Experience
- Learn the culture – Every research and work environment is different. Take the time to observe and ask questions in the beginning to learn the norms around the lab, so you can feel comfortable, know how to most effectively communicate with your co-workers, and be informed.
- Seek feedback – Evaluations of performance and constructive feedback on areas of improvement are important. When starting a new position, ask about performance evaluations, and how often you can expect supervisory meetings. It’s unrealistic to expect constant feedback and evaluation on all tasks you complete, but asking for performance reviews every once in a while will help you learn, grow and advance.
- Ask questions – Asking questions is how you learn. But make sure to keep the number of questions within reason. When it comes to asking questions, it's about quality, not quantity. Refrain from asking questions about concepts you can quickly learn about by doing some basic research on your own. Focus on questions that build upon your body of knowledge and help you understand process, procedure and protocol.
- Maintain a positive attitude – Smile and say hello! This goes a long ways towards improving your likeability, as everyone appreciates a friendly face and positive attitude. Depending on the experience, the projects you’re given in the early days of your research experience may not be the most exciting or intellectually stimulating. Regardless, it’s important to complete every task with promptness and enthusiasm. This is how you build credibility and trust, and that will grow into increased responsibility. No matter how small, all tasks contribute to the success of the team, and demonstrating your willingness to help out as needed will go a long way.
- Be responsible and reliable – Arrive on-time (or even a little early!) to your scheduled shifts and to meetings, and don’t miss work. Learning time management skills, such as balancing academic and research commitments, is part of the experience. If something comes up that prevents you from meeting your obligations or working your scheduled shift, such as illness, inform your supervisor as soon as possible.
- Be honest and acknowledge difficulties – In research, as in life, things will go wrong. A piece of equipment might break, a data collection device might not function properly, or the script you wrote to analyze the data might not run (no matter how many tweaks you try). Obstacles and setbacks are to be expected; what is most important is the way you react to them. Being honest about the difficulties you encounter and the errors you make builds a foundation of trust with your research colleagues and will allow them to help you troubleshoot the situation. Honesty is key to the responsible and ethical conduct of research.
- Avoid distractions– Turn off your phone and stay off social media while at work. Facebook can wait, as can texts from friends. Don’t assume that no one will notice that you’re checking your phone and sending texts throughout your scheduled shift.
- Keep it clean – Avoid inappropriate and informal conversations – though your mentor may seem casual and laid back, swearing and talking about the raging party you went to last night isn’t appropriate. You want your mentor to take you seriously and view you as a professional.
Have you ever considered taking a gap year? If so, did you know how you wanted to spend that year off? If you said yes to any of these questions, take a look at what one of our AED upperclassmen has to say about their own plans.
Pre-health track: Pre-med
Why did you decide to take a gap year?
I was pre-med, then switched to PT my sophomore year to try and avoid Orgo and Biochem. I then volunteered at a PT clinic and realized diagnosing and practicing medicine is what I'm more passionate about. With that said, squeezing the last science classes in and taking the MCAT while still graduating in 4 years pushed me back and forced me to take a gap year. I'm glad to have a year "break" before selling my soul to medical school.
What are your plans during your gap year?
I have a part time job at Publix and plan on working there to save up money. I will continue to shadow and build my resume. I also want to do some medical mission trips.