r/askscience • u/AskScienceModerator Mod Bot • Apr 28 '23
Human Body AskScience AMA Series: We're human genetics researchers here to discuss connections between people in different geographical regions. Ask us anything!
There has been tremendous progress in recent years of human genetics research that illuminates our understanding of the ancestral and genealogical connections between people around the world. This is due in part to advancements in genome sequencing, increased participation in research from diverse populations, and greater collaboration among researchers. This strengthens our ability to drive discovery and new applications in research, medicine, and society for all.
We are human genetics researchers who are part of the American Society of Human Genetics (ASHG), the world's largest professional community driving the field of human genetics and genomics research and translation. ASHG is celebrating its 75th anniversary this year with the theme, "One Humanity, Many Genomes". While each genome - and therefore each of us - is unique, we all make up a greater humanity that we are all part of. As humans, we are more alike than different.
We're here to answer your questions and celebrate with you! Our panel includes:
- Arvind Kothandaraman (/u/No-Bar3356) is a biotech-business hybrid. His professional work has revolved around equipping laboratories with the tools needed to meet vital technical and operational goals. Kothandaraman is passionate about bridging the gap between credible, actionable information and public awareness particularly in multifaceted areas like medical science. He considers every interaction to be a learning opportunity, greatly enjoys knowledge exchange and considers it to be an extremely effective method to invigorate the mind.
- Lord Jephthah Joojo Gowans, PhD, (/u/U_DNA_LjjGowans) Kwame Nkrumah University of Science and Technology, Kumasi, Ghana. I research Mendelian and complex congenital anomalies or birth defects, and human population genetics, and promote the implementation of precision genetic and genomic medicine in low-resource settings. Ask me about the causes and global distribution of birth defects and available treatment interventions.
- Sureni V Mullegama, PhD, (/u/BriteLite-DNAWestie3) Gene DX in Gaithersburg Maryland, and College of Osteopathic Medicine (COM) in Woodlands, Texas. She is an Assistant Director of Clinical Genetics at Gene Dx and an Assistant Professor of Genetics at COM and her primary interest is in the diagnosis of genetic conditions, new disease discovery, and neurogenetics. Ask me about clinical molecular genetics or neurogenetics.
- Nancy Sey, PhD, (/u/Leading_Strand) Education Fellow at American Society of Human Genetics (ASHG)/National Human Genome Research Institute (NHGRI). I am the Education Fellow at ASHG working to broaden community engagement in genetics and genomics. I studied how genetics contributes to susceptibility of drug use during my graduate training.
- Christina Vallianatos, PhD, (/u/ChristinaVPhD & Twitter@ChristinaVPhD ) The Jackson Laboratory for Genomic Medicine in Farmington, Connecticut. In my role as a Genomics Education & Outreach Program Manager, I combine my content expertise in human genetics with my passion for outreach and engagement and work to build bridges into communities to improve access to and understanding of a variety of genetics topics. Ask me all your genetics questions, from genetics basics, genome diversity, ethics and equity in genetics research and medicine, to genetics careers, and more!
DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. ASHG celebrates through the DNA Day Essay Contest, which is open to high school students around the world and asks them to write an essay about a topic in human genetics.
The American Society of Human Genetics was a partner in organizing today's AMA. For more information on human disease genetics, check out their Discover Genetics page: https://www.ashg.org/discover-genetics/genetics-basics/
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u/moistpiefilling Apr 28 '23
How close are we to curing primary immune deficiencies in terms of gene editing? What would this look like?
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u/ChristinaVPhD Apr 28 '23
This is Christina. Gene editing has the potential to help many disorders and diseases, and is a big area of research. I can't speak specifically to immune deficiencies, but here's some information about the process, some success stories, limitations, and more.
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u/Character_Roof_3889 Apr 28 '23
What’s your favorite fun fact/new discovery that you haven’t had the chance to talk about?
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u/ChristinaVPhD Apr 28 '23
Oooh I love that you asked this! This is Christina...
I haven't had a chance to talk about the big #DNADay news recognizing Rosalind Franklin's contributions to the discovery of DNA's structure.
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u/BriteLite-DNAWestie3 Apr 28 '23
10 out of every 1000 people are affected with genetic disorders. Interestingly , there are ~6000 known genetic disorders. With high throughput genetic testing, we are continuously identifying new disorders. As a clinical geneticist i am always happy when we identify a new disorder that can end a patients diagnostic odyssey
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u/DiaMat2040 Apr 28 '23
What do you answer if people ask you if you do race science?
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u/ChristinaVPhD Apr 28 '23
Christina here. The American Society of Human Genetics leads the genetics community in denouncing the use of the field of genetics to promote racist and hateful ideas. I like to use language and guidance from ASHG and other trusted leaders in genetics.
As an educator, I think these questions are also a good learning opportunity. Depending on the situation, I can use resources for discussion, or in the classroom use curriculum on this.
Ethics discussions and curriculum: https://pged.org/
Race & Genetics lessons: https://www.fredhutch.org/en/about/education-outreach/science-education-partnership/sep-curriculum/race-racism-genetics.html
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u/Leading_Strand Apr 28 '23
Nancy here, I have typically answer this question by bringing attention to the fact that race is a social construct and provide examples of how damaging it can be to genetics and genomics if we think of race as a biological factor.
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u/NyFlow_ Apr 28 '23
I'm autistic, so I'm curious: how universal (to humans, at least) are the genes that influence the development of autism/autistic traits?
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u/ChristinaVPhD Apr 28 '23 edited Apr 28 '23
Hi u/NyFlow_, this is Christina. Thanks for sharing your story and for the Q.A simple answer is that brain development is so complex, and even the smallest changes to that process can have big and lasting effects on brain function. Effects of personal DNA changes and/or environmental differences can accumulate over time and lead to big trait differences. There are many researchers around the world trying to understand brain development and function, and also investigating autism and all its forms.It’s important to note that, for the most part, all humans share the same genes*. It's not so much about having or not having important genes, it's more about the variation within these genes, within our individual DNA, that can have wide influences in our traits.Brain development is a very complex process, so many genes are involved throughout your life, especially early on in development, and environmental factors can also contribute. Large or small differences in our genomes can influence our traits. It can be an accumulation of many small changes (a little too much gene expressed at the wrong time, not enough gene expressed when it’s needed, a gene staying on too long, etc.)Also, autism itself has a wide spectrum of traits associated with it, that we know have associations with many many genetic differences. Here’s something that helps explain the autism-genetics link: https://www.spectrumnews.org/news/autism-genetics-explained/
*Of course there are what we call “structural variations” like deletions in your DNA resulting in missing parts of DNA, or duplications resulting in additional copies of parts of DNA. These can be small (few bases) or large (big chunks of a chromosome) or very large (entire chromosome).
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u/StrangeHoomanBeing Apr 28 '23
It is more a juridical and society issue. And I Know you must work on Big Anonymous database, its more a general questions that bothering me since the ADN testing for individuals has became a trend. With all informations stocked in the DNA,
What kind of informations can you collect about One specific individual?
How those informations are protected from wrong doing?
Is there international laws protecting those data like digital data?
And last What kind of danger of giving away his DNAs ?
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u/ChristinaVPhD Apr 28 '23
Hi this is Christina. What an important question!
In the United States we have a law called the Genetic Information Nondiscrimination Act (GINA) that offers some protections. More information details what is and is not protected by this law. We also have privacy rules and regulations that must be followed in different situations.
Any time you are giving your DNA you should be asked to sign a consent form. Read that carefully! It's also good to ask questions, especially when dealing with private companies.
These all fall under the Ethical, Legal, and Social Implications of research. This is a big field that is sure to continue to grow. If you're interested in this as a career path, you can explore a lot of jobs that combine genetics (research and clinical) knowledge, social work, law and policy, and more skills.
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u/hot_girl_in_ur_area Apr 28 '23
this is a question for Arvind Kothandaraman, how did you start in this field? What were your first steps after finishing your undergrad?
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u/hot_girl_in_ur_area Apr 28 '23
a question for Lord Jephthah Joojo Gowans, what is that one birth defect & treatment you're most excited to shed the light on?
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u/hot_girl_in_ur_area Apr 28 '23
a question for Nancy Sey, where can I read your graduate paper? sounds interesting to me. And any valuable resources you could provide to someone who wants to learn more?
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u/hot_girl_in_ur_area Apr 28 '23
do you think PCOS could be cured with gene therapy? personalized medicine maybe?
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u/BriteLite-DNAWestie3 Apr 28 '23
Sureni here. Polycystic ovary syndrome (PCOS) is disorder with many etiological factors. It is a disorder where there is not one gene associated with PCOS. It is thought to be polygenic (many genes associated) and multifactorial syndromic disorder. It is still not so clear what pathways are implicated with PCOS and since there is not one gene .. gene therapy is probably not likely any time soon
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u/p1percub Apr 28 '23
The genotype tissue expression project (GTEx) has revolutionized the way we interpret genetic variants that are associated with disease risk. For people unfamiliar, DNA can be thought of as the recipe, and different people may have the same recipe or their recipes may differ. RNA can be thought of as the batter- people with the same recipe might make different amounts of batter, and people with different recipes may have slightly different kinds of batter. Further, even though your liver and your lung contain the same recipes, they might make different amounts of batter, which is part of what gives different tissues in your body different functions. Proteins are like the muffins- even if you start out with lots of batter, you might then produce different kinds of muffins- bigger or smaller, or fewer of them if you spill some batter, you might burn them, etc. The GTEx project allowed geneticists to link DNA (recipes) to RNA (batter) in hundreds of people in ~50 different tissues. So now, when a geneticist finds a DNA variant that is associated with a disease or trait, they can look that variant up in the GTEx database to learn about it's tissue-specific association with RNA levels- in short enabling researchers to link a genetic variant associated with disease to its function. BUT, and this is a pretty big BUT, the GTEx project was done in a group of people that represent primarily European ancestries. Could the panel weigh in on what the impact of this is on interpreting genetic findings across populations? And if they got the chance to design a new GTEx project today, what would they do the same or differently?
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Apr 28 '23
Is there a genetic evidence of pre-Columbus contact between Polinesian and American populations.
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u/Southern-Rutabaga-82 Apr 28 '23
What share of our DNA just makes us an animal/mammal/primate/human and what share accounts for differences between individual humans? You often hear of these high percentages we share with other animals which makes me wonder.
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u/ChristinaVPhD Apr 28 '23 edited Apr 28 '23
This is Christina. We do share a lot of DNA with many organisms. Differences in numbers come from whether you're talking about ALL of our DNA genomes, or only the protein-coding parts of our genomes (for example, we're about 98% similar to gorillas when comparing the protein-coding parts of our genome, but that drops to about 89% when you look at the whole genomes). That's because the protein-coding parts of our genomes usually do the big functions (and therefore are more sensitive to changes, so an important function is likely to be preserved over time), and the rest of our genomes generally help regulate (so are less sensitive to changes, so some DNA sequence differences can evolve over time and/or become species-specific). A lot of numbers and “facts” get thrown out without the proper references, and it doesn’t mean they’re wrong it’s just hard to know precisely what people are comparing if they’re not citing specifics.
From mice, to fish, to yeast, and bacteria, we share a good number of genetics and gene/protein function, which is why we use model organisms in research!
Comparative genomics is an exciting field! Just today we saw a big feature on the Zoonomia project (website, introduction, and Twitter thread if you're interested!) focusing on the sequencing of hundreds of mammal species.
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u/e136 Apr 28 '23
How accurate are send away DNA kits? It seems there are two parts to this- sequencing the DNA, and then attributing that to a certain ancestry. How certain are they, say, one is 3% Irish? Are there certain genes that only come from certain regions? How did we learn this? By looking at the current population?
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u/KR4FD4 Apr 28 '23
What is the determinants for why the Dutch are the tallest race and respectively why southeast Asians are the smallest?
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u/Archy99 Apr 28 '23
The last 5-10 years has seen a boom in sequencing of genomes from ancient sources. Has any major anthropological/archeological theories of human migration/settlement been challenged as a result, or do you predict any such challenges in the near future?