Learn Medical Genetics is a series of video lectures about genetic disorders. It is intended for trainees and medical professionals as a way to quickly and easily learn about a variety of genetic conditions. The series was created by and is edited by Philip M. Boone, MD, PhD.
Disclaimers: No video in this series is intended to guide medical practice. Copyright for all videos held by Philip M. Boone.
Curious about a career in medical genetics? Check out these resources:
in familial retinoblastoma why the other normal allele is being mutated and is it in all/most patients? in other words why second hit happens and how frequent it is?
Nice lecture but just one clarification...carnitine is produced in mitochondria from lysine. So it must be taken out into cytoplasm, not the other way around
Hi there, person with LDS3 here :). I realize your comment's a little old now, but it's a great question! So, vascular Ehlers-Danlos Syndrome (vEDS/EDS IV), the type of EDS that's similar to LDS, is actually a differential diagnosis of LDS; there's no direct relation, but there are a number of similarities between the two conditions. So vEDS can also lead to dissections (even without an anyeurism) of the aorta and following blood vessels, however vEDS is caused by a mutation of the COL3A1 gene, whereas LDS can arise from any of the 6 potential culprits discussed in the video. Hope this still helps!
Me and my mini me both have this. ❤ my kid is the cutest kid in all of Melbourne and everyone wants to adopt her. She is all mine mine mine. Specially created for me.... ❤
great video. one thing i noticed though is in the treatment tip at the end. the intersex community advocates against genital surgeries in infants. as someone whos intersex with CAH it doesnt sit we’ll recommending surgery as an option as it is unnecessary and the infant cannot consent to it
I also have yhis with absolutely no help from drs. This is the first time i sctually found others with it outside my family. I want to know the affects on our bodies as adults and at 60 with major back issues does anyone have any more info
I haven't been diagnosed with this, but I'm certain I have it. I am 81 now and arthritis has set in and made everything more painful. Used to do charcoal portraits until about 8 years ago but now it is too painful. I have never been treated specifically for LWS/LWD and when I mention it to doctors I only get strange looks from them, nothing more. I would like to find an online support group. There is one for Madelung's Deformity and another one for dwarfism in general, but so far none for LWD.
Had badly bowed legs but when I had total knee replacement the surgeon was somehow able to cut the bone at an angle or something and my legs are much less bowed now.
Vendredi 3 Février 2023 - PARIS (France) I have so much to say about twin Genetics and Types of twins but my english is not good enough ! What a pity ! (Monozygotic twin from PARIS -FRANCE) @GEMELLOSEXOLOGIE MIR.POP'UP FROM IGNORANCE
I'm a clinical research coordinator - and I love research because I'm always learning about new topics - and twin pregnancies are completely new to me. This video made my work 100x clearer and now I can have discussions with mothers about their twin pregnancies and understand more of what is happening. Thank you for this very valuable information!
Dr told me in 10 weeks scan that baby has cystic hygroma but we waited and in 12 week scan everything is normal, NT and double marker test is also normal. Are there any other necessary tests.
Hi there, thanks for sharing your story. Can I ask, how big it was when they found it? I found out in the 14th week about 0.60mm and they told me there is still a high chance of disappearing as your baby had. I don't want to do Invasive testing.
@@jasnapasalic7814 they did not mention abt how big it was but dr gave only 10 percent possibility of everything getting normal but by God's grace everything turned out normal. I m in my 9 the month now 🤞
@@nilamk2250 I'm so happy to hear you and the baby were fine at the end! I do also believe and trust everything will be okay. Thanks! All the best to you and the baby!
I am 11 weeks pregnant and i found out today that my baby is having cystic hygroma but the doctr said there is 10% chance that it will disappear... i will go for another ultrasound after two weeks ... may everything goes well
I have LDS and had an aortic root replacement(valve sparing) on oct1,2009 they used my aorta to create a test for this disease Im in a research program with the N.I.H. so that they can treat this disease in future generations. My father died from an aortic dissection in november of 1985 at the age of 33 Intrestingly enough I tested positive for SMAD3 my entire family benefits from this research
Do you suggest the whole panel of genes need to be tested for an accurate diagnosis? The “ testing “company tested only for SMAD3 and supposedly found a variant. Now the doctor wants to put him on meds and his scans are normal! I am being skeptical.
