Hi everyone! I hope your week was wonderful and that your weekend also goes that way!
This week I did my usual shadowing of Dr. Narayanan, and got to observe around a dozen different cases. Some of the patients that I saw this week had behavioral problems which previous doctors and Dr. Narayanan had linked to autism, ADHD, and ADD. Others came in for regular and routine check-ups.
But, my week wasn’t just filled with watching neurological exams and measuring the height and weight of each patient. I was able to see a 4 month old baby who presents with all the symptoms of Spinal Muscular Atrophy (SMA). SMA patients have a loss of motor neurons so they are unable to produce certain voluntary muscle movements. The baby had low muscle tone and struggled with the ability to produce any movements that muscles in her upper arm and upper leg. In order to confirm her diagnosis of SMA, Dr. Narayanan drew her blood and is having it sent off to be sequenced in order to see if the patient has a mutation on her survival motor neuron (SMN) protein.
After seeing this patient, Dr. Narayanan and I sat down and talked about what makes a patient a good candidate for exome sequencing, and when exome sequencing is a good option to pursue for a diagnosis. The standards for what makes a patient a good candidate are constantly changing and being altered simply because the technology is always changing and new advancements are being made. So, there are some things that make a patient a bad candidate for sequencing and those are if the child was born incredibly premature, or if there is a known cause of brain injury to the patient (such as cerebral palsy, or bacterial meningitis).
I was also given the opportunity to see a patient being enrolled into a genomic study. In order to be enrolled, a patient must give their consent and be made fully aware of what they are signing up for. The clinical director, Keri Ramsey, goes through a bunch of paperwork with the family and then draws blood from the parents, the child (who is being sequenced), and a sibling (if they are willing). The blood is then sent off to be sequenced, and once it has been sequenced the data from the child is compared to the data from the parents to determine which genes might be mutated.
Since my research is more centered towards following a single patient and using that patient to learn about whole exome sequencing, Dr. Narayanan is going to give me the notes and case reports regarding that particular patient. Once I have those (hopefully by next week), I will really be able to begin answering my question!
Thanks for checking back in this week!
I love reading your blog! I have a quick question on why a patient might not be a good candidate for sequencing. How does being born premature affect their status? Are they only a poor candidate until they reach a certain age or developmental stage, or will being born prematurely forever make them a poor candidate? Sorry if I worried anything poorly.
ReplyDeleteHi Stirling!
DeleteBabies who are born very premature typically suffer from more common diseases that are linked to being a premature baby. I hope that answered your question!
Hi Anjalee! This week sounded really cool! How long does it take to sequence the genes? Also, does it only take a few individuals to complete the study? These are rare disorders, so that seems like the only way they could have a good data set. Looking forward to the next post!
ReplyDeleteHi Brent!
DeleteSequencing these genes can take a pretty long time - anywhere between 9 months to a year. Each study is individualized so they compare the genetic data of the mom, dad, and affected child. Hope this answered your questions!
Hi! Once again I found this blog extremely interesting! I found it interesting how there still seemed to be a lot to learn from this process. How long does it typically take to receive results back from the sequencing? I can't wait to read next week!
ReplyDeleteHi Jackson!
DeleteIt can take around 9 months to a year. Thanks for reading!
Hey Anjalee! This post was really interesting! I was wondering, with regards to what makes a patient a bad candidate for exome sequencing, are the ones you mentioned the only factors? Also, when deciding if a candidate is a good candidate, is that determined on a case by case basis?? Again, great post and I can't wait to read more!
ReplyDeleteHi Anirudh!
DeleteThose were just some of the general reasons that make a patient a bad candidate. Whether a patient qualifies for and would benefit from exome sequencing is determined on a case by case basis. Hope this answered your questions! Thanks for reading!
Hello. This post was incredibly interesting. I found it interesting that you can witness and learn so much about many rare disorders. Also, once receiving results from the sequencing, how do the results affect the treatment towards that disease? I can't wait until your next post!
ReplyDeleteHi Gokul!
DeleteOnce they have the results back and a diagnosis, they can use different medications to either treat the disease or the symptoms that come along with the disease. Also, sometimes there are clinical trials and research being done which the patients can participate in if they desire. Hope this answered your question!
Wow! This was definitely my favorite post of yours yet! I think it's great that even by the second week you're interacting with patients and are truly being involved in these studies. I don't have any questions now but once you have your case reports, I'm sure I'll have plenty to ask and learn more about!
ReplyDeleteHi Anjalee! The things you're doing at your internship site seem so awesome! For the kids participating in the genomic study you mentioned, you said that the patients have to give consent and be aware of what they're signing up for. Isn't that asking a lot of the kids enrolled, being that they're not even 18 yet (I'm guessing)? Are there ways the clinic provides for kids to deal with the emotional side of things related to these studies? Eagerly awaiting the next post!
ReplyDeleteHi Shreya!
DeleteIf the child that is being enrolled is over the age of 7, Keri has to explain to them what the process is and do her best to make sure they understand what is going to happen. But, as you can probably image, explaining what exome sequencing and RNA sequencing is to a 7 year old seems near impossible. There are places that help deal with the emotional side of things and Dr. Naryanan and Keri also do their best to help. Hope that answered your question!
These updates are so interesting!! I can't think of any critiques or questions at the moment. It's so awesome to read about these different sicknesses/diseases. Can't wait for the next one!! -Esther
ReplyDeleteHello! I find it awesome that you are able to see patients being personally diagnosed with different childhood diseases and how the genes affect them. Is the only purpose of the genomic study to compare the genes between family members? and if so how does the mutated gene occur as it's different from the other familial genes? thanks and keep us updated on the wonderful work!!
ReplyDeleteHi Natalya!
DeleteThe purpose of the genomic study is to find which genes is mutated and is causing whatever disease or abnormality that is presenting in the child. They draw blood from both parents and the child to compare them and see if its a mutation that has been passed down from the mother, the father, both of them, or if its a de novo mutation. A de novo mutation is a mutation that just happened in the child - it was not passed down from the mother or the father. Hope that answered your question!
Hi Anjalee! Your research and findings about exome sequencing seem very interesting. This is definitely a very cool and interesting method to diagnose a certain patient. Cant wait for next week!
ReplyDeleteYour resarch is very intersting. I would love for you to fo more in depth about this SMA? What would happen to children who have SMA? Do they have shorter life-span? Do they have trouble with speeches or listening? Can't wait for your next post!
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DeleteHi Tsugumi!
DeleteSince SMA is a disease which causes motor neurons to die, the remaining motor neurons work overtime which causes them to essentially burnout. Typically children with this disease do have a shorter lifespan because they suffer through respiratory issues because of issues with the diaphragm and lungs. As far as speech and listening, I am not sure how they are affected. But, new treatments and drugs have been recently approved and are now being used to start to treat SMA. Hope this answered your question!
Anjalee, this sounds like such an interesting experience. I am a bit jealous because of what you are experiencing. So, there are definite genes that are associated with ADHD, Autism, and ADD? Or are they still being testing to figure out if they are definite genes? Also, to be in the study, parents and children have to be biologically the same? No adopted children? This actually makes sense to me and it sounds like an amazing opportunity. Keep up the good work.
ReplyDelete