AskScience AMA Series: We are Human Genetics Researchers from the University of Miami, Ask Us Anything about cutting-edge research techniques like CRISPR, advances in personalized genetic medicine, or just anything genetics! | AskScience Blog

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Tuesday, February 22, 2022

AskScience AMA Series: We are Human Genetics Researchers from the University of Miami, Ask Us Anything about cutting-edge research techniques like CRISPR, advances in personalized genetic medicine, or just anything genetics!

AskScience AMA Series: We are Human Genetics Researchers from the University of Miami, Ask Us Anything about cutting-edge research techniques like CRISPR, advances in personalized genetic medicine, or just anything genetics!


AskScience AMA Series: We are Human Genetics Researchers from the University of Miami, Ask Us Anything about cutting-edge research techniques like CRISPR, advances in personalized genetic medicine, or just anything genetics!

Posted: 22 Feb 2022 04:00 AM PST

Hi r/askscience and Reddit,

Thank you so much for your time and attention! We are scientists from the Department of Human Genetics at the University Of Miami Miller School Of Medicine. Our department is the 2nd largest recipient of NIH funding for Genetics Research, and we investigate a wide range diseases using the latest sequencing technology and other cutting-edge methods that have helped us understand the human genome in new and unexpected ways. From better understanding developmental conditions to improving personalized cancer treatments, the future of genetics is incredibly exciting and hopeful.

Please let us know any questions you have about the current state or future of genetic research or medicine (EXCEPT PERSONAL HEALTH QUESTIONS OR ADVICE), and we have 3 faculty who have volunteered their time to give their perspectives. Our department is committed to the paramount need for including diverse populations in genetic research, and we hope that engaging with everyone here will help us better connect with the communities we serve.

Here today starting at 3:30PM EST (20:30 UT) are three researchers from the University of Miami, ask us anything!

Username: /u/IAmA_UMiamiGenetics

Dr Karen Nuytemans, PhD Bio:

Dr. Nuytemans is a Research Assistant Professor in the John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Department of Human Genetics. She received her PhD from the University of Antwerp in Belgium after which she came to University of Miami, initially as a post-doctoral Fellow, before advancing to her current position. Her research focuses on the genetics of neurodegenerative brain disorders. She has extensive experience working with 'big data' datasets including genotyping and next generation sequencing data, for the identification of common and rare genetic variants in disease. Dr. Nuytemans is specifically interested in Parkinson's Disease (PD) as well as Dementia with Lewy Bodies (DLB) and Frontotemporal Dementia (FTD). Everyone, regardless of race, ethnicity, or socioeconomic status, should have access to personalized medicine. That is why including these disorders across diverse populations in genetic research is one of her main research foci.

Dr Susan Halloran Blanton, PhD Bio

Dr. Blanton received her PhD in Human Genetics from Virginia Commonwealth University/Medical College of Virginia. She obtained post-doctoral training in Biostatistics (University of Pittsburgh) and Population Oncology (Fox Chase Cancer Center). Her primary research has focused on the mapping of genes for Mendelian and complex diseases; she has been instrumental in studies identifying over twenty genes/loci for Mendelian disorders. Stroke and the underlying genetics of its risk factors, deafness, retinal diseases, skeletal dysplasias, cleft lip/palate, and clubfoot are among the diseases which she currently studies. She collaborates with Drs. Sacco, Wright and Rundek to identify genetic factors influencing white matter and cognition and their relation to ageing. In addition, she has been involved in developing and implementing genetic education materials for Federal and appellate level judges and science writers in an ELSI sponsored project. Dr. Blanton is the Executive Director of the Hussman Institute for Human Genomics as well as the Associate Director of Communications and Compliance. She is an Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics.

Dr Michael Cuccaro, PhD Bio

Michael L. Cuccaro, Ph.D., Director of the Patient and Family Ascertainment Division in the Center for Genomic Education and Outreach at the John P. Hussman Institute for Human Genomics, is a clinical psychologist who specializes in understanding the interplay between genetics and behavior across development. His work reflects this specialization with a focus on cognitive and behavioral disorders such as autism spectrum disorder, dementia, and intellectual disability. His research concentrates on the development of behavioral methods to construct and extend clinical phenotypes of individuals with these and related disorders to optimize gene discovery. Further, he is working to improve recruitment and enrollment strategies to broaden opportunities for underserved populations to participate in genetic research. In addition, as part of his involvement with the Genetics Pathway for medical students, Dr. Cuccaro is involved in studies of medical trainee and professional attitudes about the utility of genomic information in healthcare. Dr. Cuccaro is also an Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and the Department of Psychology.

submitted by /u/AskScienceModerator
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Why are so many materials opaque? What's special about transparent materials like glass that sets them apart?

Posted: 22 Feb 2022 07:11 AM PST

Also, why do other EM frequencies outside of visible light go through so many materials so much more easily?

submitted by /u/Xelopheris
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Are dreams powered by the same parts of the brain that are responsible for creativity and imagination?

Posted: 21 Feb 2022 06:45 AM PST

And are those parts of the brain essentially "writing" your dreams?

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How does masturbation reduce the risk of prostate cancer?

Posted: 21 Feb 2022 03:57 PM PST

Why isn't flourine the substance with the highest boiling point if it's the most electronegative element?

Posted: 22 Feb 2022 07:04 AM PST

I was confused as to why tungsten is considered to have the highest boiling point compared to flourine that has a very low one (according to some online sources). What determines the differences in boiling points between elements?

submitted by /u/Icy_Avocado_768
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What keeps synapses together?

Posted: 22 Feb 2022 04:35 AM PST

I've read that neurons do not touch at synapses, but are rather really close to each other. So what keeps them from coming undone, especially in a body in movement?

submitted by /u/Blakut
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If you were to be in a tank of water on a rocket/space ship leaving the planet, how much of the g forces would you feel at lift off?

Posted: 22 Feb 2022 09:03 AM PST

What makes it easier for some cells to get targeted drug delivery than other cells? Is it the expression of certain cell surface markers?

Posted: 22 Feb 2022 07:23 AM PST

How hard would it be to do targeted drug delivery to all cells expressing SASP or inflammatory surface markers? Or all cells that have NMDA or dopamine transporters on their surfaces? (or nestin or doublecorticon, or...)

submitted by /u/inquilinekea
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A common characteristic of single and multilayer dielectric coatings and interference filters is that transmittance and reflectance spectra shift to shorter wavelengths as they are tilted from normal to oblique incidence. Why?

Posted: 22 Feb 2022 03:24 AM PST

I've been using a spectrophotometer to measure the reflectance vs wavelength of un coated and coated glass. With all the samples I have measured, I am finding that any peaks, troughs, pass/blocking bands etc, shift to lower wavelengths as I increase the angle of incidence.

Can anyone explain this phenomena?

submitted by /u/Sin-Silver
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Can animals be born with neurodevelopmental disorders?

Posted: 21 Feb 2022 04:12 PM PST

Hoping it's the right flair

But yeah, as the question states. I know that some animals have been observed to have "human" issues like epilepsy or congential or chromosomal disorders like Down Syndrome, but wondering if they were also observed to have such ND disorders like autism spectrum disorders, global developmental delay, ADHD, dyspraxia etc. Is this something we can assess in animals wild or domesticated?

My daughter is on the asd spectrum and it's got me thinking as of late whether this is effects only humans or have scientists not been able to reliably assess animals for ND issues.

submitted by /u/rlhignett
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Does the moon have different angles of culmination depending on time of month like the sun's yearly analemma?

Posted: 22 Feb 2022 04:07 AM PST

So depending on latitude, the sun will have different yearly culminations. In certain places (I think along the equator?) the sun even hits the zenith yearly. Does this sort of movement of daily culmination also occur with the moon? Does it hit a monthly peak before dropping again?

submitted by /u/Boomsta22
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What happens to the geometry of an Ellipsoid rubber if you apply uniaxial tensile load to it?

Posted: 22 Feb 2022 05:05 AM PST

For sure there will be strain in the direction of the rubbers length axis. Also depending on the Poisson's Rate there might be a Force transversal and compressing the rubber. But does this force make the ellipse an circle as well?

submitted by /u/Stevod2121
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Why do aerosols fall out of the troposphere within days to weeks, but can stay in the stratosphere for years if they get there - especially the smallest particles?

Posted: 21 Feb 2022 03:26 PM PST

What scale is used to measure a mineral's toughness?

Posted: 21 Feb 2022 03:40 PM PST

I googled it up but it keeps giving me the mohs scale, wich is used to measure hardness (how difficult it is to scratch a mineral) not how hard it is to break it, is there a similar scale for that?

submitted by /u/MatiasFerminPaez
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Can the Shepard Tone effect be applied to visuals, or anything aside from audio?

Posted: 21 Feb 2022 06:36 AM PST

I am a card game creator and my creative method is taking abstract concepts and forming them into games.

The Shepard Tone affect causes one to hear two tones. The notes creates an auditory illusion that the tone (the same tone being played over and over) is raising or falling in scale, higher or lower every time you listen to it.

Could this be applied to something visual? Or even conceptual in terms of rules, or even a system that makes one believe something is changing, but isn't?

submitted by /u/MrZonka
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What is the significance and utility of Feynman Diagrams?

Posted: 22 Feb 2022 01:01 AM PST

Was it a massively impressive achievement that he devised them?

submitted by /u/shockingdevelopment
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Does hydrogen peroxide speed up the germination proccess?

Posted: 21 Feb 2022 05:10 PM PST

Was watching this TikToker who is know for household hacks. Normally he makes some sense but now this is heading towards 5 minute craft territory.

While I can see hydrogen peroxide speading up the germination process by maybe a day or 2, for seeds to be that large cannot happen in just 24 hours.... right? Is this a thing?

submitted by /u/TheElementOfFyre
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Can dynamic friction coefficient be greater than static?

Posted: 21 Feb 2022 12:19 PM PST

Are there any two materials that have greater dynamic friction coefficient than static friction coefficient against each other? Or is it simply impossible because of logic?

submitted by /u/Book_Lover_42
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How does the Ptolemaic geocentric model explain the concept of solar "years" when it assumes the sun rotates around the earth once per day?

Posted: 21 Feb 2022 07:04 AM PST

I was reading an old Arabic book written in the 1200s AD and in one section it was comparing the Muslim calendar which is based on lunar years and the "Roman" calendar (as it so named it) which was based on solar years.

So the author said that "the Roman year consists of 365 days which is the time it takes for the sun to cross/rotate the Celestial circle once".

I know the model used during the time of the author is the Ptolemaic one since the same book in the first few chapters explains their concept of how the universe works (clearly based on the Ptolemaic model as he even quotes Ptolemy every now and then), and it states that the night and day cycle occurs because the sun rotates around the earth once every 24 hours.

my confusion is, what is exactly meant by "the sun crossing the celestial circle). in other words, how does the geocentric model explain a year based on the sun's rotation that takes 365 days while at the same time establishing that the sun rotates completely around the earth once every 24 hours?

submitted by /u/Sweet_Barracuda_6995
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How does the eye switch from photopic to mesopic vision? Is this switch related to any sleep/circadian responses?

Posted: 21 Feb 2022 01:05 PM PST

I'm looking for details on how these responses work on a fundamental level, as in what chemicals go where. I've been researching the effects of blue light on the sleep cycle and can't find a detailed explanation of how a frequency of light translates to an increase in melatonin production as this WebMD graph so simply claims; all the resources I've seen on this are either confident with zero nuance or detailed but uncertain.

submitted by /u/Adventurous_Heart_34
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Does plaque build up in the arteries over a long period of time, is this why statins aren’t as effective as they should be?

Posted: 20 Feb 2022 09:50 PM PST

Is this because statins are prescribed to late in age when the plaque buildup had already happened, would it be better to give statins to people with hereditary heart disease from an early age?

submitted by /u/jjbbal255
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Faster drugs tolerance build-up in a former tolerant subject ?

Posted: 21 Feb 2022 02:31 AM PST

Would someone that had built and lost tolerance to a drug in the past builds a tolerance faster if he was treated with that same drug or a drug with a cross-resistance ?

submitted by /u/Carbonara_Warrior
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During a forest fire, do predators make easy prey of the escaping wildlife or do they themselves just run as well?

Posted: 20 Feb 2022 06:48 PM PST

I'm Imagining all the prey species fleeing the fire into the areas not on fire, with predators having a choice between making easy prey of them or seeking shelter itself.

Just wondering if there has ever been any research into this.

submitted by /u/Boneapplepie
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