Category Archives: Transhuman News

Evan Eichler

Professor, University of Washington

It has been more than 20 years since scientists announced the completion of the Human Genome Project even though the $3 billion effort to sequence the 3 billion bases of human DNA was not, in fact, complete. Technological limitations meant that roughly 8 percent of the genome remained a mystery.

In April, the Telomere-to-Telomere Consortium closed nearly all the gaps, adding roughly 200 million bases of genetic information that codes for more than 1,900 genes.

This new treasure trove of data, detailed in six papers in Science, stands to advance autism research, says Evan Eichler, professor of genome sciences at the University of Washington in Seattle.

Spectrum spoke with Eichler, who was part of the Human Genome Project and the Telomere-to-Telomere Consortium, about what secrets may emerge from once-murky regions of the genome.

This interview has been edited for length and clarity.

Spectrum: How will having a more complete human genome affect autism research?

Evan Eichler: Because our reference genome was incomplete, some gene sequences were not correctly mapped to their place in the genome. So when we would find a variant in an autism genome that was missing from the reference genome, we didnt always know where it was or which gene or genes it affected. This new telomere-to-telomere draft improves mapping across the board. The sequences we gather from people with autism are now more likely to be mapped to the right place.

One phenomenon often associated with autism is the deletion or duplication of DNA, known as copy number variation (CNV). In our recent paper in Science, we analyzed the new telomere-to-telomere data and found that it was a better predictor of true copy number 9 times out of 10 when compared with the old reference. That means were in a much better position to assess CNVs, which we know to contribute to autism, than with the old reference that was full of holes.

S: How was this updated human genome sequence produced differently from previous ones?

EE: We typically sequence autism genomes with short reads, which are just a few hundred bases long. When we do this, were missing genetic variation that occur over long stretches of DNA, particularly structural variation such as large deletions, duplications and rearrangements of DNA. We have previously shown that about 75 percent of all structural variation in the human genome goes undetected if we rely only on short-read data. Roughly 10 percent of autism cases stem from known structural variation in DNA. If we can sequence the genomes of autism families with long reads, many thousands of bases long, we can explore the 75 percent of structural variation that was previously undetected and potentially find more genetic causes of autism.

S: Are there potentially new autism-linked genes in the more complete genome?

EE: About 500 genes have been mapped to complex regions of the new reference genome that were previously excluded from sequencing studies because our techniques didnt reliably map there. Among those genes are ones important for brain function, such as SRGAP2C. The number of copies of this gene influences where, how and when dendrites form during development, which influences the density and strength of synaptic connections. Its a gene incredibly important to brain function, whose duplicate copies we couldnt reliably detect with short reads.

Another gene, ARHGAP11B on chromosome 15, was previously found to be deleted in two people with autism and intellectual disability. Its known to increase neuronal stem cell division during development. That gene is typically not studied in autistic people because it was mapped to very repetitive regions of the genome that previous genome-sequencing techniques skipped over entirely.

S: What could we learn about autism from the dark regions of the human genome that do not code for proteins?

EE: DNA that makes up the short arms of human chromosomes, called acrocentric DNA, may be important in autism. Those stretches were only sequenced in the last year or so of the Telomere-to-Telomere project.

There are gene families in acrocentric DNA that encode rDNA, which helps form the ribosomes that produce proteins in cells. We know autism is often linked with having too many or too few copies of genes; acrocentric DNA is another category of DNA we can now analyze for the same problem. If we can compare the rDNA of people with autism with that of neurotypical individuals, any differences we see may help us understand the chances of developing autism.

S: Now that we have a new reference genome, will some autism studies need to be repeated?

EE: Yes, well need to run all autism genomes against this new, more complete reference genome. Im particularly interested in looking for variations in genes on the X chromosome, which is linked with sex. There are significant sex differences in boys versus girls when it comes to autism, with boys four times more likely to be autistic than girls. Now, with the new reference genome, we can detect copy number variations and other genetic variation better than before, including on the X chromosome.

We would also like to look at unsolved cases of autism those not linked to any known rare genetic variants and those without high polygenic risk scores, which reflect common genetic variants associated with the condition. These unsolved cases account for a very large fraction of kids with autism. Maybe in the dark regions of the genome, or in genes not characterized before, we can find answers especially with long-read sequences of Mom, Dad and unaffected siblings to shed light on how these unsolved cases are genetically distinct or similar to their family members.

S: What about methylated DNA DNA with chemical tags called methyl groups on top. There is evidence that these epigenetic tags, which influence gene activity, play a role in autism.

EE: With new long-read sequencing techniques such as nanopore sequencing, we can distinguish methylated sequences without having to amplify or convert the DNA beforehand, as was necessary with prior techniques. There might be differences in epigenetic modifications of DNA between people with and without autism that we missed before, which could help address some of the unsolved cases of autism.

S: How feasible is it for researchers to conduct long-read sequencing, or for families to access it?

EE: The major limitation is the cost. Sequencing and assembling a genome well with long reads costs about $10,000, compared with about $1,000 with short reads. Most insurance companies are not going to pay for long-read sequencing. Theres also the issue of throughput. Since it started in 2016, the SPARK project has aimed to look at 50,000 families using exome sequences, which capture only the protein-coding regions of the genome. In that same time, we could look at just 50 families with long-read whole-genome sequencing. [SPARK is funded by the Simons Foundation,Spectrumsparent organization.]

But costs always come down with time. I think that long reads will replace short reads in 10 years. I think every family deserves to have their genomes fully sequenced and characterized, to help them make decisions such as what the best care for their children should be. We just have to get the technology to a cost-effective point.

S: The newly sequenced parts of the genome often contain highly repetitive DNA. Autism has been linked to the presence of such repetitive regions. What might these new regions tell us about autism?

EE: The short answer is we dont know yet. But there is evidence that those regions are very relevant to autism. Two common genetic causes of autism include duplications on chromosome 15q, which account for about 1.5 percent of autism cases, and deletions on 16p11.2, which account for just under 1 percent of autism cases. We know that repetitive regions are hotspots for chromosomal damage that can lead to deletions and duplications, but they werent precisely mapped. Now we can precisely map these regions of genomic instability and gain insights on how breaks occur there and potentially lead to autism.

S: Does anything else come to mind with this new work?

EE: One thing thats still a puzzle is that the same genetic variation strongly linked with autism can have very different outcomes in one kid versus another. Some children may be mildly affected, whereas others may be severely affected. I dont think the odyssey of this work ends with finding the primary genetic causes of autism. We need to understand the background in which these variations lie the way they interact with other genetic variation to understand their true outcome.

Another thing I have reflected on more recently is how most of the innovations we see with this new project were driven by scientists a full generation younger than me. I think that bodes well for the future, to have so many young people interested in solving these difficult problems. The future of human genetics research is in good hands.

Cite this article: https://doi.org/10.53053/GPXL5356

Read more:
Autism and the complete human genome: Q&A with Evan Eichler | Spectrum - Spectrum

ByAnnika Weder

A nearly 40-year-old study is the basis for new groundbreaking collaborative research identifying the relationship between genetics, proteins, and disease risk, while shedding light on racial health disparities in the process.

The new study, the results of which have been published in a paper in Nature Genetics, has provided a wealth of information that will allow the research community to test the ways in which proteins affect health outcomes, such as the risk for developing various types of cancer or heart disease or contracting COVID-19. The work could also lead to the development or repurposing of therapeutic drugs to treat human disease. The researchers hope the study will increase the understanding of the genetic basis of disease, in particular because the diversity of study participants will unlock new information about the links between proteins and disease.

The makings of this comprehensive study date back to the mid-1980s, when the Atherosclerosis Risk in Communities study was launched with Josef Coresh from the Department of Epidemiology in the Bloomberg School of Public Health as a principal investigator. ARIC, for which Johns Hopkins is a key field center, investigated causes of atherosclerosisa disease characterized by the build-up of fats, cholesterol, and other substances in the walls of arteriesand measured how cardiovascular risk factors, medical care, and outcomes vary by race, sex, place, and time.

The study was notable in two critical ways: it followed individuals for decades, collecting biological samples at regular intervals; and it included Americans of European ancestry as well as Americans of African ancestry. Beginning in 1987, more than 10,000 participants regularly received physical examinations and follow-up phone calls to maintain contact and to assess the health status of the cohort. Data collected include participants' medical history, demographics, health behaviors, and genetic information. The ARIC study has become a valuable resource, resulting in over 2,500 publications to date. Many independent research projects have used ARIC data for a range of topics including the study of heart disease, kidney disease, diabetes, and cognitive decline.

When Nilanjan Chatterjee, Bloomberg Distinguished Professor of biostatistics and genetic epidemiology, learned through graduate students he was co-advising with Coresh that ARIC also collected participants' proteomic datainformation about the proteins present in organismshe realized the immense untapped potential this resource held.

Image caption: Nilanjan Chatterjee

Image credit: CHRIS HARTLOVE

Proteins have a central role in many biological functions, supporting the structure, function, regulation, and repair of organs, tissues, and cells. Proteins support muscle contraction and movement, for example. They transmit signals to coordinate processes between different organs and move essential molecules around the body. Antibodies that support immune function, hormones that help coordinate bodily function, and enzymes that carry out chemical reactions such as digestion are all proteins. Because proteins control many of the mechanisms critical to an organism's health, diseases can often trace their origins to mutations in proteins.

Proteomics, the systemic analysis of proteins, gathers information about the proteome, the complete set of proteins produced by a given cell, organ, or organism. It falls under a class of disciplines collectively referred to as omics, which aim to collectively characterize the groups of biological molecules that translate into the structure, function, and dynamics of an organism. Other examples of omics studies include genomics, the study of an organism's full genetic information; epigenomics, the study of the supporting structure of the genome; and transcriptomics, the study of the set of all RNA molecules.

"ARIC is an incredibly unique data source, both because of the amount of genetic, proteomic, and other omic data they have on such a large number of study individuals, and because of its inclusion of individuals from European and African ancestries," says Chatterjee. "Diverse ancestry data is completely lacking in many omics studies. ARIC had a wealth of proteomic data that had not been analyzed, so we were very happy to take advantage of this incredible resource available to us right here at Johns Hopkins."

For their study, the researchers first analyzed genetic variants that correlate with protein levels in individuals to identify protein quantitative trait loci, or pQTL, portion of DNA. They then developed machine learning-based models that can predict information about an individual's proteinsinformation that is not always collectedbased on genetic information, which is often more accessible in large-scale studies.

Nilanjan Chatterjee

Bloomberg Distinguished Professor of biostatistics and genetic epidemiology

This model in turn will allow scientists to identify links between the levels of certain proteins in an organism and its corresponding disease risk. Knowing which proteins to target in order to prevent development of a disease is crucial for developing new drug therapies or repurposing existing drug therapies, as many drugs work by targeting the body's proteins.

To demonstrate how the model works, the team applied it to proteome-wide association studies for two related traits: gout, a common form of arthritis, and its closely related biomarker, uric acid. The results showed that an existing drug could be repurposed to combat gout.

"'Omics' innovations have made multi-disciplinary collaborations necessary, exciting, and productive," says Coresh. "The lived experience of over 10,000 participants in the ARIC cohort, combined with data on nearly 5,000 protein levels in their blood, allowed for the development of tools that are broadly applicable to human health and disease. We have already seen more than a half a dozen new investigations using the tools and the methods will be even more broadly applicable."

For Chatterjee, the study's powerful models and insightful findings underlined the importance of using diverse populations in genetic and omics studies.

"African populations in particular have a lot more genetic variation because the population is older," Chatterjee says. "Excluding people of African ancestry means we miss out on a large fraction of genetic variations and how it impacts health outcomes. Taking results from a genome-wide association study done with only individuals of European ancestry and trying to apply the results to other populations does not work as well for understanding disease risk, which is not surprising. To best serve all patients, diversity in omics studies is imperative."

Josef Coresh

Epidemiologist and principal investigator on the ARIC study

In addition, the team found that information garnered from populations of African ancestry added incredible value for interpreting results from study participants overall.

"Because European populations are newer, their genes are more confoundedmany variants always come together, and it is difficult to determine which genetic variant is causally related to a trait," Chatterjee explains. "African populations are older, and over more generations, the tight linkage among variants have broken down and it becomes possible to identify which variants are most likely to be the causal variant for a trait."

Looking forward, for Chatterjee, an exciting aspect of this project was the immense potential for impact these models have. Chatterjee hopes that a multi-omics approach in a multi-ancestry study will unlock a more comprehensive understanding of the genetic basis of complex disease and how that genetic basis arises. Next steps may include developing and improving statistical and machine learning models to combine data from populations of multiple ancestries, data from other types of -omics studies, and extending analysis to rare variants.

The authors emphasize that the study would not be possible without the strong partnerships and collaborations across Johns Hopkins and beyond, including the sophisticated data analysis led by Department of Biostatistics PhD student Jingning Zhang and post-doctoral fellow Diptavo Dutta.

Given the collaborative nature of the undertaking, it was important to the team to make the resources and models they developed available to others. They have made the models available online.

"Anyone can download these models for use in their own study to test for the effect of proteins on whichever traits they are investigating," Chatterjee explains. "Our work has already generated ideas for many follow-up studies using proteomic data, and it has been exciting to see that, in fact, people have already started using the models in their own protein association studies."

Read this article:
Study probes the relationship between genetics, proteins, and disease risk - The Hub at Johns Hopkins

Singular Genomics Systems, Inc.

LA JOLLA, Calif., May 10, 2022 (GLOBE NEWSWIRE) -- Singular Genomics Systems, Inc. (Nasdaq: OMIC), a company leveraging novel next-generation sequencing (NGS) and multiomics technologies to empower researchers and clinicians, today announced the formation of its scientific advisory board (SAB). The SAB comprises a distinguished group of academic and industry experts who will advise on the companys product and service offerings and research and development pipeline.

We are pleased to announce the launch of our scientific advisory board and are privileged to work with such accomplished leaders in science and medicine, said Eli Glezer, Ph.D., Founder and Chief Scientific Officer of Singular Genomics and newly appointed Chair of the SAB. This groups expertise in DNA sequencing, human genetics, oncology and immunology will be an invaluable resource as we expand the applications of our G4 sequencing system and develop the PX platform as a powerful tool for spatial biology.

The members of Singulars SAB include:

David L. Barker, Ph.D., Board Member of Singular Genomics, AmideBio, and Aspen Neuroscience, Scientific Advisor to Luna DNA, and Board Member and Chairman at Bionano Genomics. Dr. Barker previously served as Vice President and Chief Scientific Officer of Illumina, while also sitting on their Scientific Advisory Board. In his academic career, Dr. Barker conducted interdisciplinary research in neurobiology as a Postdoctoral Fellow at Harvard Medical School, Assistant Professor at the University of Oregon, and Associate Professor at Oregon State University. Dr. Barker holds a BS with honors in Chemistry from the California Institute of Technology and a Ph.D. in Biochemistry from Brandeis University.

Lawrence Fong, M.D., Efim Guzik Distinguished Professor in Cancer Biology at the Helen Diller Family Comprehensive Cancer Center at the University of California, San Francisco (UCSF); Co-Director of the Parker Institute of Cancer Immunotherapy at UCSF; Co-Lead of the Cancer Immunity and Immunotherapy Program in the UCSF Cancer Center. Dr. Fong is also a physician-scientist in the Department of Medicine, Division of Hematology/Oncology at UCSF, where he directs both a translational research program and an NIH-funded research lab. Dr. Fongs research examines the mechanisms that underlie clinical response and resistance to immunotherapies. This work includes tracking antigen-specific T cell responses in treated cancer patients and developing biomarkers that are associated with clinical outcomes. Dr. Fong has received multiple awards including the NIH Outstanding Investigator Award. Dr. Fong received his BA from Columbia and M.D. from Stanford, and completed internal medicine training at the University of Washington, as well as an oncology fellowship and post-doctoral training at Stanford in 2002.

David H. Ledbetter, Ph.D., FACMG, DABMGG, Chief Clinical & Research Officer at Unified Patient Network, Inc. Dr. Ledbetter also served as Executive Vice President and Founding Chief Scientific Officer at Geisinger, where he helped lead their MyCode biobank/genomics project one of the largest in the world. Dr. Ledbetters current research focuses on leveraging longitudinal electronic health information with large-scale DNA sequencing to determine the clinical utility and cost-effectiveness of precision medicine approaches in real-world health system settings. Dr. Ledbetter is internationally recognized for his research on the genetic basis of childhood neurodevelopmental disorders, having discovered the genetic cause of Prader-Willi syndrome and Miller-Dieker syndrome early in his career. Dr. Ledbetter is a graduate of Tulane University and earned his Ph.D. at the University of Texas-Austin.

Elaine Mardis, Ph.D., Board Member of Singular Genomics; Co-Executive Director of the Institute of Genomic Medicine at Nationwide Childrens Hospital and holds the Steve and Cindy Rasmussen Endowed Chair in Genomic Medicine. Dr. Mardis is also Professor of Pediatrics at The Ohio State University College of Medicine. Additionally, Dr. Mardis serves on the Supervisory Board, Science and Technology Committee, and the Compensation and Human Resources Committee at Qiagen. Dr. Mardis is a pioneering researcher internationally recognized in cancer genomics with a focus on the application of genomic technologies to improve the understanding of human disease and the precision of medical diagnosis, prognosis and treatment. Dr. Mardis received her BS in zoology and her Ph.D. in chemistry and biochemistry, both from the University of Oklahoma. She has authored more than 380 articles in peer-reviewed journals, has contributed chapters for several medical textbooks, and is an elected member of the U.S. National Academy of Medicine.

Daniel Shoemaker, Ph.D., former Chief Scientific Officer of Fate Therapeutics. Dr. Shoemaker has worked in the industry for over 25 years, helping to build several successful organizations ranging from startups to public companies. Most recently at Fate, he led the companys innovation efforts to bring multiple iPSC-derived cell therapies to the clinic. Previously, Dr. Shoemaker served as Chief Scientific Officer of ICx Biosystems, a biotechnology firm that developed advanced detection technologies for use in biodefense, cancer and prenatal diagnostics. He was also a founding scientist at Rosetta Inpharmatics. Dr. Shoemaker received his BS in biochemistry from the University of California, Santa Barbara and his Ph.D. in biochemistry from Stanford University.

Story continues

About Singular Genomics Systems, Inc. Singular Genomics is a life science technology company that is leveraging novel NGS and multiomics technologies to build products that empower researchers and clinicians. Our mission is to accelerate genomics for the advancement of science and medicine. Our Singular Sequencing Engine is the foundational platform technology that forms the basis of our products as well as our core product tenets: power, speed, flexibility and accuracy. We are currently developing two products that are purpose-built to target applications in which these core product tenets matter most. Our first product, the G4, targets the NGS market. Our second product in development, the PX, combines single-cell analysis, spatial analysis, genomics and proteomics in one integrated instrument to offer a versatile multiomics solution.

Forward-Looking Statements Certain statements contained in this press release, other than historical information, may constitute forward-looking statements within the meaning of the Federal securities laws. Any such forward-looking statements are based on our managements current expectations and are subject to a number of risks and uncertainties that could cause our actual future results to differ materially from our managements current expectations or those implied by the forward-looking statements. These and other risk factors that may affect our future results of operations are identified and described in more detail in our most recent filings on Forms 10-K and 10-Q and in other filings that we make with the SEC from time to time, including our Quarterly Report on Form 10-Q for period ended March 31, 2022, filed with the SEC on May 10, 2022. Accordingly, you should not rely upon forward-looking statements as predictions of future events or our future performance. Except as required by applicable law, we undertake no obligation to update publicly or revise any forward-looking statements contained herein, whether as a result of any new information, future events, changed circumstances or otherwise.

Investor ContactMatt Clawson949-370-8500ir@singulargenomics.com

Media ContactDan Budwick, 1AB973-271-6085dan@1abmedia.com

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Singular Genomics Announces Formation of Scientific Advisory Board - Yahoo Finance

Swedens Olink Holding (Nasdaq: OLK) has announced that Oxford Genomics at the University of Oxford is adopting its technology, becoming the UKs first Olink lab.

It is hoped that the partnership will enable new techniques to unravel mechanisms of disease using the Olink Explore platform.

"We are trying to make the drug development process more precise by understanding the heterogeneity in the patients instead of one drug fits all"According

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Oxford's adoption of Olink tech to 'unravel mechanisms of disease' - The Pharma Letter

A small demographic may have the key to better understanding how humans are at risk for a COVID-19 infection. Scientists are now looking into a group of people who never contracted the novel coronavirus throughout the pandemic despite the emergence of more transmissible variants.

Around one in ten people in England seemingly have some sort of resistance to COVID-19 because they never caught the virus since the pandemic started. Because of this, scientists are eager to know if this group of people could lead them to a potential cure for the disease.

A study launched late last year introduced a global effort to dissect the human genetic basis of resistance to the life-threatening disease caused by SARS-CoV-2. The team behind it proposed a strategy to determine, recruit and genetically analyze the people who showed natural resistance to COVID-19 infection.

The researchers noted that several candidate genes could be involved in providing inborn resistance to COVID-19 in certain individuals. By understanding them, the team could identify mechanisms that possibly restrict viral replication and promote resilience upon infection.

What we are looking for is potentially very rare genetics variants with a very big impact on the individual, lead researcher Andrs Spaan, a clinical microbiologist from the Rockefeller University in New York, told The Washington Post.

The international study already has 700 participants. More than 5,000 people believed to also be immune to the virus are also being screened by the scientists for the research.

There is a theory that some people may have not contracted COVID-19 due to fewer receptors in their noses, throats, and lungs, making it difficult for the coronavirus to bind and cause an infection. This was brought up because there were health workers who did not wear face masks at the peak of the pandemic and still tested negative for COVID every week.

There is also a possibility that the same group of people might have been previously exposed to a similar virus that gave their immune systems a boost and protection against SARS-CoV-2, as per HuffPost.

For the international study, the team is more focused on uncovering if some people were born with a particular immune system armed with the right genetic materials to combat SARS-CoV-2. Finding answers to this could help the medical community better deal with the situation and come up with the right drugs to counter the virus and its newer strains.

More:
COVID Resistance Might Be Tied To Genetics: Experts - Medical Daily

National Institutes of Health Director Francis Collins speaks at the 2019 BioLogos Conference in Baltimore, Maryland on March 27, 2019. | THE CHRISTIAN POST

There is always a dilemma for Christians in best handling and reacting to the positions and counsel of Christian leaders. Often these are people we have grown to trust and respect as followers of Christ.

Their convictions at times are consistent with Christian principles and biblical wisdom. They champion appropriate positions and defend causes from a historically Christian perspective. They gain traction and respect even among cultural, political, and religious opponents because of the internally consistent strength of their arguments and their winsome and gracious demeanor.

And yet, it is impossible for any fallen and sinful person to be right all the time. Similarly, it is quite possible and regularly demonstrated that the unregenerate are not always wrong.

As a case in point, contrast Dr. Francis Collins and President Donald Trump.

Trump, not convincingly a born-again Christian, became president in large measure because he promised to represent conservative Christians and their concerns. His appointing of originalist judges to federal courts and the U.S. Supreme Court, as well as his attendance at events like the annual March for Life while he was in office (this was unprecedented for a president), were encouragements to many Christians. Yet his demeanor was consistently characterized as non-Christian. Such may well have cost him re-election. Christians and conservative political analysts will debate for decades whether he was a net positive or negative influence on America. Clearly, both cases can be made. Different Christian voices have weighed in on the matter. Many Christians, even conservatives, felt that Trump used them for his personal gain and prestige.

In certain notable ways, a case could be made that the Francis Collins situation at times echoes the debate over Donald Trump among Christians.

Dr. Francis Collins, the famous geneticist, was and is vocally Christian. He has clearly identified as such, and he has taken heat for it. For example, in the summer of 2009, after his nomination as director of NIH by President Barack Obama, outspoken atheist Sam Harris attacked Collins in theNew York Timesas unfit for the job because of his religious convictions.

Collins became known to many Americans during his direction of the Human Genome Project through the 1990s. In February 1998,Scientific Americanprofiled Dr. Collins with the headline Where Science and Religion meet: The U.S. head of the Human Genome Project, Francis S. Collins, stives to keep his Christianity from interfering with his science and politics. That article quoted Dr. Collins saying he is intensely uncomfortable with abortion. He said that he does not advocate changing the law and is very careful to ensure his personal feelings on abortion do not affect his political stance.

The article went on to say: researchers and academics familiar with Collins work agree that he has separated his private religious views from his professional life. He shows no influence of religious beliefs on his work other than a generalized sensitivity to ethics issues in genetics.

In essence, what these people were saying is that Francis Collins is such a good scientist because you can hardly tell he is a Christian from his work.

As a much younger biology professor at the time, I was aghast at this. A Christian has separated his religious views from his professional life. Why is that a good thing?

I emailed Dr. Collins at the time, asking him ifScientific Americanhad it right. Maybe the article misunderstood Collins? My email was never answered. Not that I expected that it would be, given my obscurity and his standing and responsibilities. Still, the article troubled me, as I was always left with the lingering question.

Dr. Collins went on to launch the BioLogos Foundation, a Christian/science interface organization that advocates for the reconciliation of modern science and Christianity. The idea is that nature and Scripture are both from God and ultimately are not in conflict. This reflects Dr. Collins Christian convictions and his love of science, the study of Gods physical world. Give Dr. Collins credit for leveraging his popularity, leadership qualities, and obvious pastoral instincts for the noble cause.

Ultimately, I met Dr. Collins several years ago at a conference and heard him speak. There is no reason he would remember our quick contact in an elevator any more than he would remember my email. However, one cannot help but be impressed by his genuine humility and his concern for the spiritual health of the people around him. He has made it clear that he believes that Jesus Christ is incarnate and divine and that humans are made in the image of God (although he rejects the historic Adam), and that salvation is real.

Yet, inconsistencies remain. Dr. Collins seems to allow his science to inordinately arbitrate over biblical truth, or at least when the two are portrayed as in conflict. As his professional life has unfolded, it has become clear that theScientific Americanarticle had gotten a lot right. It is fair to say that he has remained uncertain about when human life begins. He concedes that the fertilized egg is alive at conception, but believes that maybe it is not quite human. Consequently, in his 2010 book,The Language of Life,he advocated for experimentation using excess human embryos fromin vitro fertilization(IVF) that are stuck in cryo-storage with uncertain futures, so that some good could come from them. He has never publicly disavowed human embryonic research because he sees its potential fruitfulness. In fact, as late as last summer, experiments involving human embryonic cells and mice was supported by NIH funding at the University of Pittsburgh.

There are ongoing ramifications of Dr. Collins acceptance of abortion as the law of the land. TheScientific Americanarticle in 1998 mentioned that Dr. Collins was concerned that embryonic genetic testing might lead to abortions of fetuses that have conditions that are less than disastrous. The article did not suggest what he would consider less than disastrous. For instance, would my great-nephews Downs syndrome condition be considered less than a disaster?

Princeton bioethicist and legal scholar, Dr. Robert George, made a clearer case in his 1998 address to the American Political Science Association Convention, stating, once I was a child, once I was an infant, once I was an embryo, I cannot say I was once an egg or a sperm. However, it is clear that the viable sperm and egg are quite alive. Also, it is good to remember what we say in the Apostles Creed. He was conceived born suffered died and rose again.

What human is not on that trajectory of life and death? The Bible teaches that we all are.

This leaves many conservative Christians convinced that Dr. Collins would rather come down on the side of a quote from his old boss, President Barack Obama. In March 2009, Obama signed an executive order that lifted President George W. Bushs 2001 ban on federal funding of human embryonic research. Today we will lift the ban on federal funding for promising embryonic stem cell research, stated Obama. We will vigorously support scientists who pursue this research. And we will aim for America to lead the world in the discoveries it one day may yield. Obama continued, Promoting science isnt just about providing resources it is also about protecting free and open inquiry. It is about letting scientists like those here today do their jobs, free from manipulation or coercion, and that we make scientific decisions based on facts, not ideology.

Obama insisted that Im going to let scientists do science. Im going to remove politics, religion, and ideology from that.

Of course, the reality is that such a thing cannot be done. The presidents own politics and ideology were clearly stated and inserted.

One would hope that Dr. Collins would be more comfortable with the principles articulated in President George W. Bushs 2006 State of the Union Address. A hopeful society has institutions of science and medicine that do not cut ethical corners, and that recognize the matchless value of every life, stated Bush. Tonight, I ask you to pass legislation to prohibit the most egregious abuses of medical research human cloning in all its forms creating or implanting embryos for experiments creating human-animal hybrids and buying, selling, or patenting human embryos. Human life is a gift from our Creatorand that gift should never be discarded, devalued, or put up for sale.

These are all ethical issues that have confronted Dr. Francis Collins as a man of science and of faith. The issues more recently included COVID mask and vaccine mandates. To many in the evangelical community, the pro-life appeals he made for the mandates have rung increasingly hollow, and his seeming inconsistencies have been bothersome.

Os Guinness, in his book,The Magna Carta of Humanity, brings out a principle that every intentional Christian should keep in mind: The notion of arguing on behalf of the true, the right, and the good lies behind the biblical principle of corrigibility. Guinness quotes Jewish Hebrew scholar Jonathan Sacks, We are all open to challenge. No one is above criticism, no one is too junior to administer it, if done with due grace and humility.

This requires knowing scripture and applying its logical conclusions, consistently. Otherwise, our ability to be salt and light is diminished, and we can be played. Francis Collins needs to add salt and light. Many of us have admired him, and we expect more from him in his Christian witness to science.

Dr. Jan Dudt is a professor of biology at Grove City College and fellow for medical ethics with the Institute for Faith & Freedom. He teaches as part of colleges required core course Studies in Science, Faith and Technology wherein students, among other things, study all the major origins theories and are asked to measure them in the light of biblical authority.

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Christian leaders and controversies: The case of Francis Collins - The Christian Post

BETHESDA, Md., May 10, 2022 (GLOBE NEWSWIRE) -- The National Coordinating Center for the Regional Genetics Network (NCC) is excited to announce that the third annual Public Health Genetics Week will be held from May 23-27, 2022. The goal of Public Health Genetics Week is to increase awareness and celebrate the field of public health genetics.

Each day of Public Health Genetics Week will have a different theme:

Individuals and organizations are encouraged to participate in the week by using the hashtags #PHGW and #PublicHealthGenetics across their social media platforms.

A number of events will be held throughout the week to celebrate public health genetics for professionals, students, and the general public. They include:

For All Partners in Public Health Genetics

For Professionals

For the General Public

For Students

OnPHGW.org, you can find more information about the daily themes and events that will be held throughout the week. Additionally, there are fun, interactive activities such as our PHGW Book Club (discussed on TikTok), coloring pages, a digital escape room, and puzzles. Social media tools (such as daily social media images, GIFs, social media banners, and more) can also be found on the website,phgw.org/toolkit.

For questions or comments about Public Health Genetics Week, please contactphgw@phgw.org and be sure to follow NCC (@nccrcg) onFacebook,Instagram,LinkedIn,TikTok, andTwitterfor the latest updates on the week.

About the National Coordinating Center for the Regional Genetics Networks (NCC)

Funded since 2004 by the Health Resources and Services Administration/Maternal and Child Health Bureau (MCHB) to the American College of Medical Genetics and Genomics (ACMG), NCC's mission is to improve access to genetic services for underserved populations. In collaboration with the seven Regional Genetics Network (RGNs) and the National Genetics Education and Family Support Center (NGEFSC), achieves this mission by working in the following focus areas: genetics and genomics education; genetics policy education; telemedicine; and data collection and evaluation. Learn more about the efforts of the NCC athttps://nccrcg.org.

NCC Funding Acknowledgement

This project is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under Cooperative Agreement #UH9MC30770-01-00 from 6/2020-5/2024 for $800,000 per award year. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.

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Image 1: Public Health Genetics Week

Logo of Public Health Genetics Week with a dark purple to dark blue gradient

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The Third Annual Public Health Genetics Week is Around the Corner - May 23-27, 2022 - GlobeNewswire

How The Mobile Phone Market Has Evolved Since 1993

The mobile phone landscape looks drastically different today than it did three decades ago.

In 1993, Motorola accounted for more than half of the mobile phone market. But by 2021, its market share had shrunk to just 2.2%. How did this happen, and how has the mobile industry changed over the last 30 years?

This video by James Eagle chronicles the evolution of the mobile phone market, showing the rise and fall of various mobile phone manufacturers. The data spans from December 1992 to December 2021.

Motorola is known for being a pioneer in the mobile phone industry.

In 1983, the American company launched one of the worlds first commercially available mobile phonesthe DynaTAC 8000X. The revolutionary analog phone cost nearly $4,000 and offered users up to 30 minutes of talk time before needing to be recharged.

Motorola went on to launch a few more devices over the next few years, like the MicroTAC 9800X in 1989 and the International 3200 in 1992, and quickly became a dominant player in the nascent industry. In the early days of the market, the companys only serious competitor was Finnish multinational Nokia, which had acquired the early mobile network pioneer Mobira.

But by the mid-1990s, other competitors like Sony and Siemens started to gain some solid footing, which chipped away at Motorolas dominance. In September 1995, the companys market share was down to 32.1%.

By January 1999, Nokia surpassed Motorola as the leading mobile phone manufacturer, accounting for 21.4% of global market share. That put it just slightly ahead of Motorolas 20.8%.

One of the reasons for Nokias surging popularity was the major headway the company was making in the digital phone space. In 1999, the company released the Nokia 7110, the first mobile phone to have a web browser.

But it wasnt just Nokias innovations that were hampering Motorola. In 1999, Motorola fell on hard times after one of its spin-off projects called Iridium SSC filed for bankruptcy. This put a massive financial strain on the company, and it eventually laid off a large chunk of its workforce after the project failed.

From then on, Motorolas market share hovered between 14% and 20%, until Apples iPhone entered the scene in 2007 and turned the mobile phone industry on its head.

Things really started to change with the launch of the iPhone in 2007.

In a keynote presentation at the San Francisco Macworld Expo in 2007, Steve Jobs presented the iPhone as three products wrapped into one device: a touchscreen iPod, a revolutionary cell phone, and an internet communications device.

One year later, Apple launched the App Store, which gave users the ability to download applications and games onto their iPhones. Not only did this greatly enhance the iPhones functionality, but it also allowed consumers to customize their mobile devices like never before.

This was the start of a new era of smartphonesone that Motorola failed to keep up with. Less than two years after the iPhone launched, Apple had captured 17.4% of the mobile phone market. In contrast, Motorolas market share had shrunk down to 4.9%.

By the end of 2021, Apple held about 27.3% of the global mobile market. The iPhone is a key part of the tech giants growth, driving more than 50% of the companys overall revenue.

While a number of factors contributed to Motorolas downfall, many point to one central hurdlethe companys failure to pivot.

The iPhones emergence was the start of a new, software-driven era. Motorola had mastered the hardware-driven era, but failed to keep up when the tides changed. And the animation above highlights other companies that also failed to adapt or keep up, including BlackBerry (formerly RIM), Palm, Sony, and LG.

But Apple is not alone. The popularity of Googles Android mobile operating system has helped competitors like South Koreas Samsung and Chinas Huawei and Xiaomi flourish, with each company establishing strong footholds in the global mobile phone market.

In todays fast-paced world, the ability to pivot is essential if businesses want to remain competitive. Will todays mobile phone giants like Apple and Samsung remain on top? Or will other companies like Huawei catch up in the next few years?

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