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New Ken Burns doc on genetics explores ethical implications of new treatments, history of human genome – scenester.tv
THE GENE: AN INTIMATE HISTORY
EXECUTIVE PRODUCED BY
KEN BURNS AND DR. SIDDHARTHA MUKHERJEE,
TO PREMIERE ON PBS APRIL 7 & 14, 2020
WASHINGTON, D.C. February 19, 2020 WETA Washington, D.C., the flagship public broadcasting station in the nations capital, announced today thatKEN BURNS PRESENTS THE GENE: AN INTIMATE HISTORY, a two-part, four-hour documentary based on Pulitzer Prize-winning author Dr. Siddhartha Mukherjees book of the same name, will premiere on Tuesdays, April 7 and 14, 2020 from 8-10 pm ET on PBS stations nationwide. The film airs at a critical moment for the scientific community, as geneticists around the world wrestle with the ethical implications of new technologies that offer both promise and peril.THE GENEweaves together science, history and personal stories for a historical biography of the human genome, while also exploring breakthroughs for diagnosis and treatment of genetic diseases and the complex ethical questions they raise.
Groundbreaking treatments will improve the lives of millions of peoplepotentially treating diseases like sickle cellbut there are worries that scientists will take gene-editing technology too far, using it to modify germline DNA in order to enhance certain traits deemed preferable. AsTHE GENEdemonstrates, those fears have already been realized: in November 2018, Chinese researcher He Jiankui stunned and horrified the scientific community with an announcement: he had created the first genetically edited babies, twin girls born in Chinaa medically unnecessary procedure accomplished well before scientists had fully considered the consequences of altering the human genome.
These revolutionary discoveries highlight the awesome responsibility we have to make wise decisions, not just for people alive today, but for generations to come, said Dr. Mukherjee, assistant professor of medicine at the Department of Medicine (Oncology), Columbia University and staff cancer physician at Columbia University Medical Center.At this pivotal moment when scientists find themselves in a new era in which theyre able to control and change the human genome,THE GENEoffers a nuanced understanding of how we arrived at this point and how genetics will continue to influence our fates.
The documentary includes interviews with pioneers in the field including doctors Paul Berg, Francis Collins, Jennifer Doudna, Shirley Tilghman, James Watson, Nancy Wexler and Mukherjee himself. As with Burnss other projects,THE GENEuses a remarkable trove of historical footage, including Rosalind Franklins Photograph 51 from 1952, to track the journey of human genetics. Beginning with the remarkable achievements of the earliest gene hunters and their attempts to understand the nature of heredity, the film traces the history of genetics from Gregor Mendels pea plant studies in the 19thCentury and Watsons and Cricks discovery in 1953 of the structure of DNA to the efforts by Sydney Brenner and Marshall Nirenberg, among others, to understand how the genetic code is translated in human cells. We also witness the massive technological transformation from the 1970s through the 2000s from the sequencing of individual genes by Fred Sanger to the sequencing of the whole human genome. AsTHE GENEintroduces us to the scientists solving these great mysteries, the film also examines the insidious rise of eugenics, which bore horrific results in the United States, Europe and, in particular, in Nazi Germany.
THE GENEjuxtaposes this dynamic history with compelling, emotional stories of contemporary patients and their families who find themselves in a desperate race against time to find cures for their genetic diseases. The film follows the inspiring, heart-wrenching journeys of people such as Audrey Winkelsas, a young scientist born with Spinal Muscular Atrophy researching a treatment for her own condition, and Luke Rosen and Sally Jackson, parents on a tireless quest to raise awareness for their daughters rare degenerative disease. Hopes rise and fall with new discoveries and setbacks, revealing how intimate and profoundly personal this science can be for families affected by genetic diseases.
As it traces groundbreaking developments in genetics that promise to revolutionize life for millions of people,THE GENEalso documents the thorny ethical questions some of these new treatments raise. Today, geneticists find themselves on the brink of curing diseases long thought fatal but given the harrowing history of eugenics, both the scientific community and the public are forced to grapple with the ethical implications of these new technologies. Are there unintended consequences to changing human genomes? Could changes accidentally unleash cancer or some novel new genetic disease? From the prospect of genetic therapies to CRISPR, the film explores the complex web of moral, ethical and scientific questions facing this generation.
The series is directed by Chris Durrance and Jack Youngelson, with award-winning filmmaker Barak Goodman serving as senior producer and Ken Burns as executive producing alongside Dr. Mukherjee.THE GENEhas largely the same production team as CANCER: THE EMPEROR OF ALL MALADIES, which premiered on PBS in 2015 and was the Emmy Award-nominated adaptation of Mukherjees 2010 book,The Emperor of All Maladies: A Biography of Cancer.
THE GENEexplores the ultimate mystery story it unpacks the once-impenetrable science of what makes us who we are, said senior producer Barak Goodman.This is a moment for the general public and the scientific community to engage in a national conversation about the thrilling future of genetics and the ethical challenges posed by new science.
We want people to leave our film feeling both hopeful about these stunning developments and sensitive to the ethical questions facing the field, said directors Chris Durrance and Jack Youngelson.
I was thrilled to reunite with Sid and Barak on this project, said Ken Burns.For me, science, like history, is the exploration of what has come before and the promise of the future.THE GENEuntangles the code of life itself.
THE GENErepresents a groundbreaking opportunity to broaden public understanding of this important subject, and Sid, Ken and Barak are the ideal team to bring the fascinating book to film, noted Sharon Percy Rockefeller, president and CEO of WETA, the producing public media station forTHE GENE.
Integral to the project is an extensive engagement program created by WETA in collaboration with an array of partners, in particular the National Institute of Healths National Human Genome Research Institute, the projects primary Outreach and Education Partner. The project will enable the film to reach an even larger audience, engaging researchers, physicians and patients in the national conversation about the history of genetics and the state of the field today. Partners and funders will host screenings and discussions in cities across the country, working with local public media stations and a wide range of educational, medical and scientific organizations.
In conjunction with the broadcast, WETA is developing an expansive interactive website and social and digital media components, including a multi-media educational initiative designed to engage teachers and students through multiple platforms.including a six-part animated series, that delves into the complexities of genetics. Using mixed illustration styles, each episode will focus on a particular approach to genetics, including How Things Work, When DNA Goes Sideways, The Future of DNA, and more. WETA has also developed a companion teaching guide. The series will be distributed through various digital platforms by the National Institutes of Healths National Human Genome Research Institute, PBS, and member stations.
For more information about KEN BURNS PRESENTS THE GENE: AN INTIMATE HISTORY, visit pbs.org/thegene.
#TheGenePBS
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New Ken Burns doc on genetics explores ethical implications of new treatments, history of human genome - scenester.tv
Seattle Genetics to Present at the Cowen 40th Annual Healthcare Conference – Yahoo Finance
Seattle Genetics, Inc. (Nasdaq:SGEN) announced today that management will present at the Cowen 40th Annual Healthcare Conference on Tuesday, March 3, 2020 at 9:20 a.m. Eastern Time. The presentation will be webcast live and available for replay from Seattle Genetics website at http://www.seattlegenetics.com in the Investors section.
About Seattle Genetics
Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative medicines targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEVTM (enfortumab vedotin-ejfv) use the companys industry-leading antibody-drug conjugate (ADC) technology. ADCETRIS is approved in certain CD30-expressing lymphomas, and PADCEV is approved in certain metastatic urothelial cancers. In addition, investigational agent tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. The company is headquartered in Bothell, Washington, and has offices in California, Switzerland and the European Union. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.
View source version on businesswire.com: https://www.businesswire.com/news/home/20200226005071/en/
Contacts
Investors:Peggy Pinkston(425) 527-4160ppinkston@seagen.com
Media:Monique Greer(425) 527-4641mgreer@seagen.com
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Seattle Genetics to Present at the Cowen 40th Annual Healthcare Conference - Yahoo Finance
First Prospective Study Shows +RNAinsight Identifies More Patients with Increased Risk for Hereditary Cancer Than DNA-Only Testing – PRNewswire
ALISO VIEJO, Calif., Feb. 25, 2020 /PRNewswire/ -- Ambry Genetics(Ambry), a leading clinical genetic testing lab, announced the publication of a studyin Nature Partner Journal Precision Oncology finding that RNA genetic testing, conducted at the same time as DNA testing, identifies more genetic mutations that increase genetic cancer risk than DNA testing alone. Through +RNAinsight,Ambry is the first and only lab to offer concurrent RNA and DNA genetic testing for hereditary cancer risk as a commercially available clinical test.
Inherited mutations variants or errors in our DNA that increase cancer risk play a major role in about five to 10 percent of all cancers. Genetic testing identifies these inherited mutations and is a critical tool to prevent hereditary cancers or treat them early. Standard DNA testing for hereditary cancer risk excludes portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine whether a variant increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early-detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations.
Adding RNA genetic testing at the same time as DNA testing helps address these limitations. Specifically, RNA genetic testing is an additional line of evidence that helps determine that an uncertain result from DNA-only testing is actually benign (normal) or pathogenic (disease-causing). It also helps identify mutations that DNA-only testing misses. In the study published today, co-authors from Ambry researchers describe their scalable and targeted approach to RNA genetic testing that is performed concurrently with DNA genetic testing (+RNAinsight), showing that +RNAinsight identified more mutations than DNA-only testing.
Ambry, in collaboration with 19 other leading clinical institutions across the country, including Mass General Cancer Center, Huntsman Cancer Institute, and the Perelman School of Medicine at the University of Pennsylvania, looked at 18 tumor suppressor genes where the loss of function is known to be associated with increased cancer. A prospective study on the first 1,000 patients sent in for hereditary cancer testing using RNA testing coupled with DNA was performed.
The study found that RNA testing identified seven patients with pathogenic mutations that would otherwise have received negative or inconclusive results on DNA testing alone. For six of these seven cases, substantial changes to medical management could be or were recommended based on current guidelines.
"The study findings demonstrate both the feasibility and clinical utility of adding concurrent RNA genetic testing to determine hereditary cancer risk," said Tyler Landrith, Ph.D., an Ambry scientist and study co-author. "+RNAinsight provides healthcare providers with more accurate results to inform patient care."
Notably, the prospective analysis showed a 9.1 percent relative increase in diagnostic yield than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.
"Paired RNA and DNA genetic testing has given answers to my patients who have struggled for years with inconclusive results that left them feeling helpless," said Community Health Network Genetic Counselor Rebekah Krukenberg. "With +RNAinsight, I know that I'm providing my patients with the most accurate and conclusive information about their risks for hereditary cancer."
The study also validated the accuracy of +RNAinsight, establishing a large control dataset of healthy patients. This dataset allowed study co-authors from Ambry researchers to establish a baseline for benign and disease-causing variants across the genes tested.
Studies have previously demonstrated the benefits of RNA genetic testing, but this testing has been traditionally performed as a follow-up to inconclusive DNA testing. This approach to RNA testing has limitations that +RNAinsight does not. A previous studyfrom Ambry showed that only 10 percent of patients invited to receive RNA testing after having undergone DNA testing actually sent in samples. Moreover, retrospective RNA testing only looks at targeted variants and not a full range of possible mutations. Given these limitations, Ambry has made RNA genetic testing available to all patients at the same time as DNA testing through +RNAinsight.
+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to http://www.ambrygen.com/RNAinsight.
ABOUT AMBRY GENETICsAmbry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visitambrygen.com.
For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.
ABOUT +RNAInsight+RNAinsight,paired with Ambry Genetics' hereditary cancer DNA tests, uses next-generation sequencing to concurrently analyze a patient's DNA and RNA, another layer of genetic information. +RNAinsight identifies more patients who have mutations that increase their cancer risks than through standard DNA-only testing by overcoming limitations of DNA testing. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed, and decreases the frequency of inconclusive results. +RNAinsight is now available through doctors and genetic counselors around the country. For more information on +RNAinsight, please go towww.ambrygen.com/RNAinsight.
Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662
SOURCE Ambry Genetics
Dr. Y. Edward ‘Ted’ Hsia is remembered as ‘father of medical genetics in Hawaii’ – Honolulu Star-Advertiser
Dr. Yujen Edward Ted Hsia, a pioneer in medical genetics at the University of Hawaii who shepherded his patients and students through that challenging field with warmth and grace, has died at age 88.
Ted had an uncanny ability to praise, scold and teach in one sentence all with a smile on his face, said Janet Berg, a genetic metabolic nurse who was one of his protegees. He was passionate about his patients and his colleagues and treated us all as family.
Hsia suffered a brain bleed and fall Feb. 11 at his residence in Arcadia, where he had moved a few months ago, according to Duncan Hsia, one of his five sons.
He is definitely the father of genetics in Hawaii, said Dr. Laurie Seaver, a geneticist and former colleague. He essentially built the clinical genetics program at Kapiolani (Medical Center). He was as smart as anyone I have ever known.
Medical genetics involves diagnosing, treating and managing hereditary and metabolic disorders, from birth defects to genetic diseases.
Each patient that came to him was like a puzzle, and he was trying to put all the pieces together to figure out what was going on with them, Berg said. He was never afraid to try something new.
Its body, mind and spirit he told me that all the time, she added. We can do the science all we want, but if the rest isnt OK, we are not going to get very far.
Born in Shanghai on Nov. 24, 1931, Hsia was educated in England, earning his undergraduate and medical degrees from Oxford University. He taught genetics at Yale University for a decade before joining the University of Hawaii, where he was a professor of genetics and pediatrics.
He started and ran the medical genetics program in Hawaii from 1977 to 1998, teaching genetics to all the medical students and also treating and counseling many children and their families, Duncan Hsia said.
Ted Hsia helped launch Hawaii Community Genetics, a clinical collaboration among Kapiolani Medical Center, the Department of Health and the UH Medical School.
In retirement, Hsia shared his expertise with an eager set of learners often overlooked by society: the inmates at the Womens Community Correctional Facility.
For 18 years he visited the prison weekly, helping the women understand issues such as the genetic components of disease, from cancer to bipolar disorder, as part of the Total Life Recovery Program.
He was super dedicated, said Tammy Turcios, chaplain and director of that program. Even up to the last week before he passed away, he was trucking on up that hill.
He taught them about what drugs do to their brain, about any kind of disease, she said. He always came prepared with a lesson that captivated the women. They just loved his class.
His son Duncan said his personality as well as his intelligence set him apart: He was always smiling and so friendly and generous.
As word spread of his death, former patients weighed in with social media posts. Im alive because of him, wrote Jason Taylan.
Hsias faith anchored his life. He and his late wife, Juliet, a pioneering genetics counselor herself, joined Calvary-by-the-Sea Lutheran Church when they arrived in Honolulu. He gave keiki talks at services, calling children to the front of the sanctuary and offering lessons for them and the congregation.
A baritone, Hsia was a devoted member of the church choir, and he also performed with the Honolulu Symphony Choir.
Everybody just loves his smile, said Gordon Hsia, his youngest son. The main reason why my father was smiling was that he always had faith with God in his heart. The balance of being a geneticist and having such a strong faith in the Lord is just amazing.
Seaver, who visited Hsia a few weeks ago from her home in Grand Rapids, Mich., said he was proud to tell her that his former students were now taking care of him as doctors.
His survivors include sons Martin, Calvin, Franklin, Duncan and Gordon; and 12 grandchildren.
A memorial service will be held Sunday at 4 p.m. at Calvary-by-the-Sea Lutheran Church. In lieu of flowers, donations may be made to the Ted & Juliet Hsia Foundation, 1177 Queen St. No. 2002, Honolulu 96814.
Correction: An earlier version of this article misstated the location of Dr. Laurie Seavers home.
Seattle Genetics and Astellas’ Padcev Wins Breakthrough Therapy Designation in Bladder Cancer – BioSpace
Bladder cancer drug Padcev, which was approved by the U.S. Food and Drug Administration in December, secured Breakthrough Therapy designation for the treatment of patients with another type of bladder cancer.
Seattle Genetics and Astellas Pharma, the co-developers of Padcev (enfortumab vedotin-ejfv) said the new designation was awarded to the bladder cancer drug in combination with Mercks checkpoint inhibitor Keytruda for the treatment of patients with unresectable locally advanced or metastatic urothelial cancer who are unable to receive cisplatin-based chemotherapy in the first-line setting. The Breakthrough Therapy designation was granted based on results from the dose-escalation cohort and expansion cohort A of the phase Ib/II trial EV-103, evaluating patients in this setting with the combination treatment. The FDAs Breakthrough Therapy process is designed to expedite the development and review of drugs that are intended to treat a serious or life-threatening condition.
Initial results from the trial were presented at the European Society of Medical Oncology 2019 Congress, and updated findings at the 2020 Genitourinary Cancers Symposium. The data from the trial demonstrated the combination of Padcev and Keytruda shrank tumors in the majority of patients, resulting in a confirmed objective response rate of 73.3%. Responses included 15.6% of patients who had a complete response and 57.8% of patients who had a partial response. The median progression-free survival was 12.3 months and the 12-month overall survival rate was 81.6%, the companies announced at the 2020 symposium.
Padcev is a first-in-class antibody-drug conjugate (ADC) that is directed against Nectin-4, a protein located on the surface of cells and highly expressed in bladder cancers.
Andrew Krivoshik, Oncology Therapeutic Area Head at Astellas, said the Breakthrough Therapy designation awarded to the combination treatment reflects the encouraging preliminary evidence of Padcev and Keytruda in this bladder cancer indication. Krivoshik said the research teams are progressing their clinical development program as quickly as possible in hopes of providing another treatment possibility for patients who are in need of effective treatment options.
This is an important step in our investigation of PADCEV in combination with pembrolizumab as a first-line therapy for patients with advanced urothelial cancer who are unable to receive cisplatin-based chemotherapy, Roger Dansey, Chief Medical Officer at Seattle Genetics said in a statement. Based on encouraging early clinical activity, we recently initiated a phase 3 trial of this platinum-free combination and look forward to potentially addressing an unmet need for patients.
It is estimated that approximately 81,000 people in the U.S. will be diagnosed with bladder cancer in 2020. Urothelial cancer accounts for 90% of all bladder cancers and can also be found in the renal pelvis, ureter and urethra. The recommended first-line treatment for patients with advanced urothelial cancer is a cisplatin-based chemotherapy. However, fewer than half of patients respond to carboplatin-based regimens and outcomes are typically poorer compared to cisplatin-based regimens, the companies noted.
In December, the FDA approved Padcev for adult patients who have previously received a PD-1/L1 inhibitor and a platinum-containing chemotherapy before (neoadjuvant) or after (adjuvant) surgery or in a locally advanced or metastatic setting. It was approved under the FDAs Accelerated Review Program based on tumor response rate. Accelerated approval was granted after the companies released data from a pivotal Phase II trial in June that showed Padcev rapidly shrank tumors in most patients.
Better genetics pay at the feedyard – Beef Magazine
The better the genetics, the more the profit potential. Thats what Cactus Feeders has learned from historical data on hundreds of thousands of cattle, which allows the feeding company to closely project the value of cattle headed to one of its 10 feedyards.
Justin Gleghorn, Cactus Feeders director of value management at the companys Amarillo, Texas, headquarters, outlined the benefits of feeding better quality cattle during his presentation to ranchers and stocker operators at the recent Southwest Beef Symposium in Amarillo.
Related: SS100: Hidden revolution in beef genetics
Cattle with a good brand of genetics usually work better at the feedyard, he said.
Cactus regularly ships about 20,000 fed cattle per week from its feedyards in Texas and Kansas. Close to one out of every 25 head fed in the U.S. is from a Cactus yard. Its database includes steers and heifers, native cattle, those with a Mexican origin, multiple weights and high- and low-risk animals.
Related: Deliberate genetic focus results in quality boost
Detailed records enable Cactus to project breakevens for all cattle. We dont determine success of an animal by its average daily gain, Gleghorn said. We look at what we paid for it and how much we spent for every day it was on feed.
With our historical data, we can typically put value on cattle and develop a breakeven. From that projection, we can hedge them and determine what we can pay for them.
David Anderson, Texas A&M AgriLife Extension livestock marketing economist, points out that a ranchs reputation for producing quality calves gets around and can lead to better prices. Feedlots look for cattle that have better feed efficiency in the feedlot, he said. Also, calves that dont get sick are worth more.
When a cattle feeder knows who produces those calves that are feedlot profitable, there will be demand for that ranchs calves. That produces premium prices over everyone else.
Those strong genetics get proven in feeding through repetition. To get those better prices may involve the rancher and feeder getting together to make a deal based on evidence.
Better calves will also bring better-than-average prices at a market. But again, information has value and being able to communicate that to buyers has value through premium prices, Anderson says.
Gleghorn says Cactus works to sort cattle with the better genetics to assess what they can do at different weights. They usually have better uniformity, which makes it easier to predict how they will perform and grade, he says. Cattle that are more plain have more variability and are harder to project.
Genetic potential has helped cause an increase in hot carcass weight. Carcass weights were about 700 pounds in 1974 compared to about 900 pounds now. Carcasses are above 70% Choice now, compared to about 35% Choice 20 years ago, Gleghorn says. That goes back to more genetic potential.
Gleghorn said the value of higher-quality cattle was highly illustrated the last half of 2019, when the Choice-Select spread took a wide turn upward from the five-year average.
The spread had been in the $3-$6 range until mid-June, when it was near $20. But while the spread has typically narrowed from June through mid-November, it widened substantially.
It approached $25 by July, compared with about $15 for the norm. By mid-August, it was near $28, compared to about $12 for the five-year average. In mid-October it pushed $29, compared to about $13 for the norm. The spread remained above $20 from mid-June through Dec. 1.
AgriLife Extension notes that there is no way to guarantee cattle will always bring top market prices, but with proper management and marketing procedures, discounts can be prevented.
AgriLife suggests that ranchers produce the kind of calf that is in demand, use management practices that will prevent discounts and spend ample time marketing the calves they worked all year to produce.
I think it has to start with a herd that is well fitted to its environment and conditions, Anderson says, a cowherd that is developed to maximize ranch profits productive, high weaning rates, low winter feed costs, good weaning weights, etc.
To realize the value of higher grading cattle, the rancher may have to own those cattle through finishing, or partner in the feeding, while selling on a grid. Cattle with high feed efficiency may not be the same ones that grade the best. There are tradeoffs that require some analysis of what cattle are most profitable at the ranch, feedlot and packer.
Anderson says there is value to good genetics, but we ought to think about our production system and what genetic traits are most profitable to select.
It's a real balancing act across all those different values, he says. Part of our problem is that the market signals across all those segments arent always very clear.
Gleghorn stresses that animal health issues are higher with cattle that are not on a vaccination program. We dont see a lot of issues with cattle on a good vaccination protocol, he says, but issues can also unexpectedly hit cattle with better genetics. Were seeing more BRD in low-risk cattle and working to find out why.
Stalcup is a freelance writer based in Amarillo, Texas.
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Better genetics pay at the feedyard - Beef Magazine
Study finds genetic link to extinct relative of humans in 4 modern West African populations – UCLA Newsroom
UCLA genomic research uses statistics rather than ancient DNA to look back more than 600,000 years
Leticia Ortiz/UCLA
The UCLA researchers studied four populations that mostly live in the area marked by the white band, in West Africa.
UCLA computational biologists have discovered that four populations in West Africa can trace about 8% of their genetic ancestry to an archaic hominin, an extinct relative of humans that branched off from the hominid evolutionary tree more than 600,000 years ago about 100,000 years earlier than Neanderthals did. The study is published in Science Advances.
Over the past decade, advances in computing, statistical analysis, molecular biology and genetics have revealed a richer picture of humans and their interactions with ancient relatives, such as Neanderthals. But research on the genetic ancestry of African populations has lagged behind discoveries about people with ancestral roots in Europe.
The researchers, from the UCLA Samueli School of Engineering, analyzed modern DNA obtained from an international repository of genomic data. In the past, researchers would have needed to compare the modern DNA to so-called reference DNA from ancient fossils to draw such conclusions. But the improved statistical techniques available today enabled them to look backward in time hundreds of thousands of years without fossil DNA.
This opens a new path in understanding the complexity of human evolutionary history in Africa, where the picture hasnt been as clear, said Sriram Sankararaman, the studys principal investigator, a UCLA assistant professor with appointments in computer science, human genetics and computational medicine.
The archaic hominin identified in the UCLA research is a close evolutionary relative of humans.
There is not a lot known about these archaic hominins, which makes finding out how this ghost population fits into human evolutionary history challenging. But our findings are very exciting, said Sankararaman, who also is a member of UCLAs Bioinformatics Interdepartmental Program.
Previous genomic studies have presented evidence that modern populations in Africa have complex genetic lineages, in which humans and close evolutionary relatives intermixed as recently as just a few thousand years ago. But this study may provide the strongest evidence yet that this intermixture took place.
The UCLA research reveals much more of that story for the four modern groups of people, the Yoruba of Nigeria, the Mende of Sierra Leone, the Esan of Nigeria and the Gambian in Western Divisions of Gambia.
We dont need reference DNA from fossils of the archaic hominin to confirm that, somewhere deep in our ancestry, humans intermixed with them, Sankararaman said. We can now see that such events took place by looking at our DNA itself.
Segments of Neanderthal DNA extracted from fossils have been found in most modern populations outside of Africa. DNA has also been extracted and analyzed from the more recently discovered Denisovans, another extinct group of archaic humans, whose DNA is found in people living today in South Asia and Oceania.
Archaeological evidence shows that modern and archaic humans coexisted in Africa, and some fossils have features that suggest mixing between the two populations. However, usable DNA has not yet been extracted from archaic human fossils that have been found in that region which is why the researchers ability to draw conclusions about evolution without reference DNA information could go such a long way toward solving previously unanswered questions.
Although the researchers found evidence of the archaic populations DNA in modern humans, the findings are not clear enough to determine whether these two distinct populations intermixed just once or several times over hundreds of thousands of years.
Sankararaman and Arun Durvasula, a UCLA graduate student studying human genetics, used two new statistical methods that look for patterns in the genome that could reveal the presence of DNA from a distantly related unknown archaic population. They looked at genomic data of 405 people from the1000 Genomes Project, an international public repository of genomic data from around the world. The results of both analyses were consistent.
The research was supported by the National Science Foundation, the National Institutes of Health, the Alfred P. Sloan Foundation and the Okawa Foundation.
Conference examines future genetic developments and trends – Shepparton News
World-leading genetics experts will outline what the future is likely to hold for the industry at a major Victorian conference in March.
Genetics Australia will host the three-day conference on March 18 to 20 to examine future directions in genetics with a horizon of 2030.
The conference will start with a one-day forum at Tabcorp Park in Melton on March 18 followed by farm tours in South and West Gippsland during the next two days to showcase progressive breeding programs.
The event has attracted leading international and Australian speakers, including Select Sires International Development vice-president Joel Mergler, Sexing Technologies chief executive officer Juan Moreno, Texas A&M University assistant professor Ky Pohler, Dairy Australia senior industry analyst John Droppert and Agriculture Victoria principal research scientist (genomic and cellular sciences) Jennie Pryce.
Genetics Australia chief executive officer Anthony Shelly said the conference would be a great opportunity to hear from some of the best geneticists and genetic professionals in the world.
The conference will give dairy farmers and industry professionals a glimpse into what the future is likely to hold, MrShelly said.
It is rare to have such an outstanding group of local and international speakers all in one place.
The conference will look at genetic developments in the global space and determine how these developments will impact the Australian breeding industry and the broader Dairy Industry.
Over the past few years the progression of genetics in the dairy industry and more broadly in agriculture has been phenomenal, and with the volume of research and development happening, that will expand even further the next decade, MrShelly said.
This conference will pull together all relevant information and help any interested farmer or industry member to understand how we can adapt to these new technologies to make sure were ahead of the game and achieving the best possible and most profitable outcomes.
Day one of the conference will conclude with a dinner with Sexing Technologies chief executive officer Juan Moreno speaking on his ST journey.
Participants can choose to attend the day one conference, the day one conference and dinner or all three days of the event.
The farm tours on day two and three will showcase the daughters and family members from Australias best bull team and from Genetics Australias international portfolio.
People wanting to attend the conference can register via the Genetics Australia website:genaust.com.au
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Conference examines future genetic developments and trends - Shepparton News
Philippine fruit bats may be entirely new species of their own, DNA suggests – Mongabay.com
MANILA There might be more fruit bat species in the Philippines than previously thought, according to a genetic study, underlining the possibility that each individual species might be more threatened than initially assumed.
The study on bat genetics, published October 2019 in the peer-reviewed Philippine Journal of Science, highlights two key points: at least four bat species in the country are genetically different from their counterparts elsewhere in Southeast Asia; and one fruit bat found only in the Philippines exhibits significant genetic variation across different island groups within the country.
When analyzing DNA, biologists follow a rule: the greater the degree of variation between species, the higher the possibility that the specimens come from distinct species, Luczon explains. A 2 to 3% difference is the usual benchmark to identify separate species; for bats, the threshold is 2%. What we saw are a high 6 to 7% difference in genetic distance it means that its already a very different population.
Whats the implication of this discovery? Luczon says bat species in the Philippines might be more threatened than initially classified and there might be a need for species reassessment, and if necessary, their reclassification.
Bats are notoriously difficult to study primarily because they are hard to find. They are well hidden in caves and forests, which has at times resulted in the species being grouped based on physical similarities rather than more rigorous standards. The advent of DNA barcoding technology more than a decade ago has made it easier to more precisely identify bat species. In 2019 alone, the number of new bat species grew by 35% for one of the biggest families of bats based on records by the American Society for Microbiology (ASM).
In the Philippines, there are 79 listed bat species, of which 38 are endemic and at least 12 are threatened, according to the countrys red list. Of the total bat species in the Philippines, 26 are from the Pteropodidae family known as fruit bats or flying foxes; 17 of these are endemic to the country. Eleven of the 12 threatened species are fruit bats.
Habitat loss and massive hunting as prized delicacies in some countries have driven some fruit bat species to critically endangered status. For the recent study, the researchers had since 2013 partnered with the Philippine Department of Environment and Natural Resources regional offices to collect tissue samples from 111 bats at 17 sites. But they were only able to get specimens from 19 of the Philippines 26 known fruit bat species.
Luczon attributes this to numerous factors: the researchers werent trained to handle bats, for one, and getting samples proved difficult for the critically endangered species. Its likely that the population is decreasing, Luczon says. These bats are either forest- or cave-dwelling so if their habitats are threatened, its harder to locate them and get samples.
The researchers also requested samples from the Field Museum of Natural History in Chicago, where an extensive collection of Philippine bats are well-preserved, all with the goal of documenting and comparing their genetic barcodes.
Once theyd gathered the samples, they compared them with known genome sequences in the public-access portals Barcode of Life Data System (BOLD) and GenBank.
That allowed them to clearly delineate four bat species in the Philippines from their counterparts elsewhere in Southeast Asia. The Philippine specimens of those species the long-tongued nectar bat (Macroglossus minimus), Geoffroys rousette (Rousettus amplexicaudatus), white-collared fruit bat (Megaerops wetmorei) and the lesser shorter-nosed fruit bat (Cynopterus brachyotis) were found to have a high 6% genetic difference from specimens of the same species in the region.
Most of the species collected in the Philippines show barcode sequences that are unique, the study says, adding that 13 of the species form distinct lineages that identify them as separate species. Only the cave nectar bat (Eonycteris spelaea) and the small flying fox (Pteropus hypomelanus) have similar genetics across the same species in the region, the study adds.
The discoveries didnt end there. The team found out the Philippine pygmy fruit bat (Haplonycteris fischeri), endemic to the country and classified as least concern by the IUCN, actually has different genetics in each island where it occurs in the Philippines. Comparing samples from the main islands of Luzon, Mindanao and Mindoro, researchers found a difference as high as 7% in pygmy fruit bat genetics, which raises the possibility that they might either be subspecies or new species altogether.
This fruit bat species is known for having a longer pregnancy than even humans: an 11-month gestation period considered the longest of any bat in the world. The new findings raise the need to reassess its conservation status and maybe even its taxonomy. From this study, these species may be flagged for taxonomic reevaluation, the study says.
The groups study on bats is part of a larger effort by the University of the Philippines Institute of Biology and its partners to create a robust database of all species from wildlife to freshwater fish to plants in the country. The program started in 2008 with the bigger goal of using the technology to curb wildlife trafficking and poaching and improving wildlife forensics. Its also seen as addressing the dwindling number of taxonomists studying native species, thanks to its accurate, rapid, and effective method of species recognition, the study says.
Luczon says the study is only a stepping stone for further research into fruit bats. While it doesnt cover the implications of the wide genetic differences in fruit bats, at the very least it opens the portal for reassessing these flying mammals, deepening existing studies on the species, and highlighting their unique genetic lineage.
There are many endangered and threatened bats in the Philippines, Luczon says. If you want to do a conservation program, you might want to create a unique conservation program to implement in each area. Blanket conservations are hard because the needs and threats for each species varies.
Citation:
Luczon, A. U., Ampo, S. A. M. M., Roo, J. G. A., Duya, M. R. M., Ong, P. S., & Fontanilla, I. K. C. (2019). DNA barcodes reveal high genetic diversity in Philippine fruit bats.Philippine Journal of Science Special Issue on Genomics,148(S1), 133-140.
Banner image ofa white-winged flying fox (Desmalopex leucopterus), a fruit bat endemic to the Philippines that is listed in CITES Appendix II. Image by Jay Fidelino
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Philippine fruit bats may be entirely new species of their own, DNA suggests - Mongabay.com