Category Archives: Human Genetics

According to a new report published by Grand View Research, the future market potential of genomics in newborn screening programs, emerging companies like Counsyl and Natera have launched various genetic tests to maintain their competitive edge in the market.

Genomics Industry Overview

The global genomics market size was valued at USD 20.1 billion in 2020 andis expected to reach USD 62.9 billion by 2028, expecting to expand at a CAGR of 15.35%during forecast period.

The scientific community has tried to address genetic susceptibility and severity to SARS-CoV-2 infection by combining research efforts using existing genetic databases. Multiomic-based approaches and genome-wide association studies (GWAS) have been employed to uncover biological networks and common variants underlying host-pathogen interactions. Similarly, data derived from genomes, such as polygenic risk scores (PRS), ABO blood groups, and HLA haplotypes, can be potentially used to decipher COVID-19 complications, resistance, and susceptibility. Moreover, biobanks that link electronic health records (EHRs) to genomic data can be leveraged to study the impact of genomic factors on the clinical course of patients infected with SARS-CoV-2.

Gather more insights about the market drivers, restrains and growth of the Global Genomics Market

The COVID-19 Host Genetics Initiative launched by researchers from the Finnish Institute for Molecular Medicine (FIMM) aims to inspire the human genetics community to analyze, share, and generate data to interpret determinants of COVID-19 outcomes, severity, and susceptibility. deCODE genetics, a genomics solutions provider in Iceland, has used SARS-CoV-2 genomic analysis to monitor the viral spread.

In addition, the company has partnered with the Government of Iceland to conduct genome sequencing of viral hosts. Similarly, the government of Greece funded the COVID-19-GR initiative to genotype 3,500 COVID-19 patients, conduct WGS on the SARS-CoV-2 genome obtained from these patients, and conduct immunogenomic analyses. The complete set of this data along with detailed clinical information is available and can be retrieved from the Greek COVID-19 registry.

In the near future, prenatal genetic screening programs are likely to grow at a significant pace. This is because these programs help expectant mothers identify chromosomal anomalies in their offspring. Moreover, it is anticipated that in the next 10 years, every newborns genome would be sequenced and stored in the electronic medical record. Gauging the future market potential of genomics in newborn screening programs, emerging companies like Counsyl and Natera have launched various genetic tests to maintain their competitive edge in the market.

Genomics Market Segmentation

Based on the Deliverable Insights, the market is segmented into product ad services

Based on the Application and Technology Insights, the market is segmented into functional genomics, pathway analysis, biomarker discovery, epigenetics and others

Based on End-use Insights, the market is segmented into pharmaceutical and biotechnology companies, hospitals and clinics, academic and government institutes, clinical research and other end users

Based on the Regional Insights, the market is segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa

Market Share Insights:

Key Companies Profile:

Companies are increasingly focusing on the development and launch of new products and collaboration with other entities to increase their market share.

Some prominent players in the global genomics market include:

Order a free sample PDF of the GenomicsMarket Intelligence Study, published by Grand View Research.

About Grand View Research

Grand View Research is a full-time market research and consulting company registered in San Francisco, California. The company fully offers market reports, both customized and syndicates, based on intense data analysis. It also offers consulting services to business communities and academic institutions and helps them understand the global and business scenario to a significant extent. The company operates across multitude of domains such as Chemicals, Materials, Food and Beverages, Consumer Goods, Healthcare, and Information Technology to offer consulting services.

Web: https://www.grandviewresearch.com

Media ContactCompany Name: Grand View Research, Inc.Contact Person: Sherry James, Corporate Sales Specialist U.S.A.Email: Send EmailPhone: 1888202951Address:Grand View Research, Inc. 201 Spear Street 1100 San Francisco, CA 94105, United StatesCity: San FranciscoState: CaliforniaCountry: United StatesWebsite: https://www.grandviewresearch.com/industry-analysis/genomics-market

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Genomics Market Size Is Expected To Reach $62.9 Billion By 2028, Based on High Demand For Advanced Gene-Editing Tools From Biotechnology Companies |...

NEWCASTLE, United Kingdom Scientists at Newcastle University report the discovery of a new hereditary disease called TULP3-related ciliopathy. Caused by a faulty inherited gene, this condition can result in either liver or kidney failure among both adults and adolescents.

Both kidney and liver failure, of course, can stem from a number of different causes. Organ failure can be life-threatening if left untreated, but many patients find it difficult to get an accurate diagnosis. As one can imagine, this makes settling upon the best possible treatment option near impossible.

Study authors have found that a faulty gene is the catalyst for increased fibrosis in both the liver and kidney. More fibrosis often results in the patient needing a transplant.

Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients, says Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle, in a university release. What we are now able to do is give some patients a precise diagnosis, which allows their treatment to be tailored to their needs for the best possible outcome.

Researchers reviewed each studied patients clinical symptoms, and also collected biopsies and genetic sequencing data. Ultimately, the team identified 15 patients from eight families as having the new disease. They then utilized urine collected from those 15 patients to grow cells in a lab setting. Analysis of those lab-grown cells helped the team investigate the precise defect behind TULP3-related ciliopathy.

Over half of all study participants needed a liver or kidney transplant. Before this work, the original cause for their organ failure was a mystery.

We were surprised at how many patients we were able to identify with TULP3-related ciliopathy and this would suggest that the condition is prevalent within those with liver and kidney failure, Prof. Sayer explains. We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition.

Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient, the researcher adds.

Moving forward, the team at NU will keep working on this topic. They plan to analyze cell lines taken from relevant patients, and test more potential new treatments for TULP3-related ciliopathy.

Linda Turnbull, one of the 15 patients identified as having the new condition, received a new liver decades ago. Now in her 60s, doctors diagnosed Linda with liver failure at just 11 years-old. All these years later, she finally has a better idea of what happened.

It is brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition, she comments. Its fantastic that this research has been led in Newcastle and it means that people in the future will have information regarding their condition and how best to treat it.

The study is published in the American Journal of Human Genetics.

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New disease affecting the kidneys and liver discovered - Study Finds

Doctors were significantly less likely to order colorectal cancer screening with the at-home test Cologuard (Exact Sciences Corp) for Black patients and were more likely to order the test for Asian patients, new evidence reveals.

Investigators retrospectively studied 557,156 patients in the Mayo Clinic health system from 2012 to 2022. They found that Cologuard was ordered for 8.7% of Black patients, compared to 11.9% of White patients and 13.1% of Asian patients.

Both minority groups were less likely than White patients to undergo a follow-up colonoscopy within 1 year of Cologuard testing. Cologuard tests the stool for blood and DNA markers associated with colorectal cancer.

Although the researchers did not examine the reasons driving the disparities, lead investigator Ahmed Ouni, MD, told Medscape Medical News that "it could be patient preferences...or there could be some bias as providers ourselves in how we present the data to patients."

Ouni presented the findings on May 22 at Digestive Disease Week (DDW) 2022, held in person in San Diego and virtually.

"We looked at the specialty of physicians ordering these because we wanted to see where the disparity was coming from, if there was a disparity," said Ouni, a gastroenterologist at Mayo Clinic in Jacksonville, Florida.

Just over half (51%) of the patients received care from family medicine physicians, 27% received care from internists, and 22% were seen by gastroenterologists.

Family physicians ordered Cologuard testing for 8.7% of Black patients, compared to 16.1% of White patients, a significant difference (P< .001). Internists ordered the test for 10.5% of Black patients and 11.1% of White patients (P< .001). Gastroenterologists ordered Cologuard screening for 2.4% of Black patients and 3.2% of White patients (P=.009).

Gastroenterologists were 47% more likely to order Cologuard for Asian patients, and internists were 16% more likely to order it for this population than for White patients. However, the findings were not statistically significant for the overall cohort of Asian patients when the researchers adjusted for age and sex (P = 0.52).

Black patients were 25% less likely to have a follow-up colonoscopy within 1 year of undergoing a Cologuard test (odds ratio [OR], 0.75; 95% CI, 0.60 0.94), and Asian patients were 35% less likely (OR, 0.65; 95% CI, 0.52 0.82).

Of the total study population, only 2.9% self-identified as Black; according to the 2020 US Census, 12.4% of the population of the United States are Black persons.

When asked about the relatively low proportion of Black persons in the study, Ouni replied that the investigators are partnering with a Black physician group in the Jacksonville, Florida, area to expand the study to a more diverse population.

Additional plans include assessing how many positive Cologuard test results led to follow-up colonoscopies.

The investigators are also working with family physicians at the Mayo Clinic to examine how physicians explain colorectal cancer screening options to patients and are studying patient preferences regarding screening options, which include Cologuard, fecal immunochemical test (FIT)/fecal occult blood testing, CT colonography, and colonoscopy.

"We're analyzing the data by ZIP code to see if this could be related to finances," Ouni added. "So, if you're Black or White and more financially impoverished, how does that affect how you view Cologuard and colorectal cancer screening?"

"Overall this study supports other studies of a disparity in colorectal cancer screening for African Americans," John M. Carethers, MD, told Medscape Medical News when asked to comment. "This is known for FIT and colonoscopy, and Cologuard, which is a genetic test in addition to FIT, appears to be in that same realm.

"Noninvasive tests will have a role to reach populations who may not readily have access to colonoscopy," said Carethers, John G. Searle Professor and chair of the Department of Internal Medicine and professor of human genetics at the University of Michigan in Ann Arbor. "The key here is if the test is positive, it needs to be followed up with a colonoscopy."

Carethers added that the study raises some unanswered questions, for example, Does the cost difference between testing options make a difference?

"FIT is under $20, but Cologuard is generally $300 or more," he said. What percentage of the study population were offered other options, such as FIT? How does insurance status affect screening in different populations?

"The findings should be taken in context of what other screening options were offered to or elected by patients," agreed Gregory S. Cooper, MD, professor of medicine and population and quantitative health sciences at Case Western Reserve University and a gastroenterologist at University Hospitals Cleveland Medical Center in Ohio.

According to guidelines, patients can be offered a menu of options, including FIT, colonoscopy, and Cologuard, Cooper told Medscape Medical News.

"If more African Americans elected colonoscopy, for example, the findings may balance out," said Cooper, who was not affiliated with the study. "It would also be of interest to know if the racial differences changed over time. With the pandemic, the use of noninvasive options, such as Cologuard, have increased."

"I will note that specifically for colonoscopy in the United States, the disparity gap had been closing from about 15% to 18% 20 years ago to about 3% in 2020 pre-COVID," Carethers added. "I am fearful that COVID may have led to a widening of that gap again as we get more data.

"It is important that noninvasive tests for screening be a part of the portfolio of offerings to patients, as about 35% of eligible at-risk persons who need to be screened are not screened in the United States," Carethers said.

The study was not industry sponsored. Ouni and Carethers report no relevant financial relationships. Cooper has received consulting fees from Exact Sciences Corp.

Digestive Disease Week (DDW) 2022: Abstract Su1012. Presented May 22, 2022.

Damian McNamara is a staff journalist based in Miami. He covers a wide range of medical specialties, including infectious diseases, gastroenterology, and critical care. Follow Damian on Twitter: @MedReporter.

For more news, follow Medscape on Facebook, Twitter, Instagram, and YouTube.

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At-Home Colorectal Cancer Testing and Follow-Up Vary by Ethnicity - Medscape

NEW YORK & SAN ANTONIO--(BUSINESS WIRE)--3DBio Therapeutics (3DBio), a clinical-stage regenerative medicine company, and the Microtia-Congenital Ear Deformity Institute announced they have conducted a human ear reconstruction using the AuriNovo implant, an investigational, patient-matched, 3D-bioprinted living tissue ear implant. The groundbreaking reconstructive procedure in the first-in-human Phase 1/2a clinical trial is evaluating the safety and preliminary efficacy of AuriNovo for patients with microtia, a rare congenital deformity where one or both outer ears are absent or underdeveloped. Microtia affects approximately 1,500 babies born in the US annually1,2. This transformational implant procedure was performed by a team led by Arturo Bonilla, M.D., a leading pediatric ear reconstructive surgeon specializing in microtia and the founder and director of the Microtia-Congenital Ear Deformity Institute in San Antonio, Texas.

AuriNovo is a patient-specific, living tissue implant created using 3D-bioprinting technology for surgical reconstruction of the outer ear in people born with microtia Grades II-IV. AuriNovo is designed to provide a treatment alternative to rib cartilage grafts and synthetic materials traditionally used to reconstruct the outer ear of microtia patients. The U.S. Food and Drug Administration (FDA) has granted AuriNovo Orphan Drug and Rare Pediatric Disease Designations.

As a physician who has treated thousands of children with microtia from across the country and around the world, I am inspired by what this technology may mean for microtia patients and their families, said Dr. Bonilla. This study will allow us to investigate the safety and aesthetic properties of this new procedure for ear reconstruction using the patients own cartilage cells. My hope is that AuriNovo will one day become the standard-of-care replacing the current surgical methods for ear reconstruction requiring the harvesting of rib cartilage or the use of porous polyethylene (PPE) implants. The AuriNovo implant requires a less invasive surgical procedure than the use of rib cartilage for reconstruction. We also expect it to result in a more flexible ear than reconstruction with a PPE implant. The AuriNovo living tissue implant is designed to provide a better solution for patients born with microtia by transforming their appearance and building their confidence and self-esteem.

Daniel Cohen, Ph.D., 3DBio Chief Executive Officer and Co-founder, and his team have built a comprehensive, proprietary technology platform to deliver living tissue implants to patients. This is a truly historic moment for patients with microtia, and more broadly, for the regenerative medicine field as we are beginning to demonstrate the real-world application of next-generation tissue engineering technology. It is the culmination of more than seven years of our company's focused efforts to develop a uniquely differentiated technology platform meeting the FDAs requirements for therapeutic manufacturing of reconstructive implants, said Dr. Cohen. We believe that the microtia clinical trial can provide us not only with robust evidence about the value of this innovative product and the positive impact it can have for microtia patients, but also demonstrate the potential for the technology to provide living tissue implants in other therapeutic areas in the future.

Our initial indications focus on cartilage in the reconstructive and orthopedic fields including treating complex nasal defects and spinal degeneration, continued Dr. Cohen. We look forward to leveraging our platform to solve other high impact, unmet medical needs like lumpectomy reconstruction and eventually expand to organs.

In addition to the Microtia-Congenital Ear Deformity Institute, the AuriNovo Phase 1/2a clinical trial is enrolling patients at Cedars-Sinai Medical Center in Los Angeles, CA under the direction of John Reinisch, M.D., Director of Craniofacial and Pediatric Plastic Surgery.

AuriNovo Clinical Trial

The Phase 1/2a clinical trial is a multicenter, single arm, prospective, open-label, staged study of the AuriNovo living tissue ear implant for surgical reconstruction of the external ear in patients born with unilateral microtia. The clinical trial will collect safety data on microtic ear reconstruction using AuriNovo and assess preliminary efficacy data which will be measured by overall satisfaction scores from Surgical Outcomes and FACE-Q Kids questionnaires. Following 3D scanning of the opposite ear to specifically match the patients ear geometry, AuriNovo incorporates the patients own auricular cartilage cells into a 3D-bioprinted, living, full-sized ear construct designed to replace the patients microtia-affected ear. The trial expects to enroll 11 patients and is being conducted in sites in Los Angeles, California and San Antonio, Texas. For more information on the clinical trial, visit clinicaltrials.gov.

Proprietary 3D-Bioprinting Technology

3DBio has developed unique capabilities enabling the creation of living tissue implants for therapeutic applications. The Company not only created the first 3D-bioprinted living tissue implant, but it also created an entire suite of processes and engineering solutions required to support the technology platform. The platform is purpose-built to meet the FDAs requirements for therapeutic manufacturing and includes: proprietary cell processes to rapidly expand cells in sufficient quantity; ColVivo therapeutic grade bio-ink to preserve key biological and rheological properties; GMPrint 3D-bioprinter to enable a sterile workflow combined with exceptional quality and speed; and Overshell technology to add non-permanent structural support to biological implants.

About AuriNovo

AuriNovo is a patient-specific, supportive living tissue implant created using 3D-bioprinting technology for surgical reconstruction of the external ear (auricle) in people born with microtia Grades II-IV. The construct is a 3D-bioprinted collagen hydrogel scaffold encapsulating the patient's own auricular cartilage cells (chondrocytes). The construct is printed in a size and shape matching the patients opposite ear for implantation. AuriNovo was granted Orphan Drug and Rare Pediatric Disease Designations by the FDA for reconstruction of the outer ear in patients with microtia.

About the Microtia-Congenital Ear Deformity Institute

Founded in 1996 by Dr. Arturo Bonilla, the Microtia-Congenital Ear Deformity Institute helps children born with microtia and other ear deformities. It is one of the largest clinics in the world specializing in pediatric microtia reconstruction surgeries and has performed thousands of procedures to help children born with this ear deformity. The Microtia-Congenital Ear Deformity Institute is based in San Antonio, Texas. For more information visit: https://www.microtia.net/.

About 3DBio Therapeutics

3DBio Therapeutics (3DBio) is a clinical-stage regenerative medicine company solving medical challenges by pioneering custom-engineered, patient-specific, 3D-bioprinted, living tissue implants. 3DBios groundbreaking approach develops living tissue implants with structural and functional integrity using a full suite of features to meet the FDAs requirements for therapeutic manufacturing including novel and proprietary 3D-bioprinter (GMPrint), bio-ink (ColVivo), specialized cell culture system, and implantable protective Overshell technology. 3DBios first investigational product, AuriNovo, is currently being evaluated in a Phase 1/2a clinical trial for ear reconstruction in patients with microtia and has been granted Orphan Drug and Rare Pediatric Disease designation by the FDA. For more information visit: http://www.3dbiocorp.com

REFERENCES:

1 Luquetti, D.V., et al., Microtia: epidemiology and genetics. American Journal of Medical Genetics Part A, 2012. 158(1): p. 124-139.2 Luquetti, D.V., E. Leoncini, and P. Mastroiacovo, Microtia-anotia: a global review of prevalence rates. Birth Defects Res A Clin Mol Teratol, 2011. 91(9): p. 813-22.

Certain information set forth in this press release may constitute forward-looking statements under applicable securities laws. There are a number of factors that could cause actual results or outcomes to differ materially from those addressed in such forward-looking statements. Thus, forward-looking statements are provided only as an opportunity to understand managements beliefs and opinions in respect to the companys future prospects.

For additional resources (photos, b-roll, video statements, biographies, headshots, etc.) and access to the media room, please email 3dbio@lavoiehealthscience.com.

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3DBio Therapeutics and the Microtia-Congenital Ear Deformity Institute Conduct Human Ear Reconstruction Using 3D-Bioprinted Living Tissue Implant in a...

Our Father is difficult to watch, especially if youve suddenly discovered as an adult that you have a never-known family of half-siblings, cousins, nieces, and nephews thanks to a long-ago sperm donation. One review dubs the series Netflixs most gruesome real-life documentary yet.

It tells the tale of Indianapolis fertility physician Donald Cline, who used his sperm to inseminate at least 96 women (and counting) between 1979-1986. After years of being in the dark, the offspring have found each other thanks to diligent sleuthing by some of the half-siblings and DNA testing.

The majority of us live in a 25-mile radius, some within minutes of Cline. I walk around and I could be related to anyone. Ive probably met half sibs and we dont even know it, said a son named Guy.

Dr. Cline told many of his patients that he would be using sperm from a medical student or resident, and that no donor would be used for more than three women. The nefarious donations went on for so long in the small town that he used his sperm to inseminate his own daughter!

The Our Father series is in part a detective storythe sleuthing work of Jacoba Ballard, a young woman who was the first to uncover the physicians deception. When aDNA test revealed she had seven relatives in nearby parts of Indiana, she knew something was wrong.

It was a sick feeling, Jacoba said. What she unraveled was shocking: besides finding sisters and brothers with whom she shared a quarter of their DNA, each victim had a mother whod sought fertility treatment from Dr. Cline.

How did these suddenly-bonded young adults unravel the rest of the mystery? Figuring out familial relationships begins with more sleuthing than science. Newbie sibs zero in on the donor by identifying relatives whove tested and with whom everyone matches. Then, they trace backwards and start asking older relatives questions.

Things got complicated at times. Jacoba identified a second cousin they all matched with on 23andMe whos related to someone with the same surname as Dr. Clines mothers maiden name. Dr. Cline was indeed the cousins cousin, and yes, hes a doctor.

Right then my stomach dropped because she confirmed what we already knew but were hoping wasnt true, that Dr. Donald Cline could be our biological father, she says in the documentary. I was in shock. So many emotions, so many questions. He lied about a donor being used. Why did he do it? How long did he do it? How many siblings do we have? Jacoba recalls.

Our Father is also the story of local FOX 59 TV journalist Angela Ganote. She began unearthing the story in February 2015. At first she had great difficulty getting information from local authorities. But once the station began airing her interviews with Jacoba, at least one half-sib stared at her screen and thought she was looking at a twin. Many of them share blond hair and blue eyes.

The documentary opens with a hallway lined with photos of babies. Objects and imagery from Christianity are everywhere; the doctor was a marriage counselor and Sunday school teacher. A placard quotes Jeremiah 1:5,

God Knew Me Before I Was Born: Before I formed you in the womb I knew you, and before you were born, I consecrated you; I appointed you a prophet to the nations.

Then the camera pans to a sterile exam room with illustrations of uteri festooning the walls. Photos of kids are tacked to bulletin boards; lots of little blonds a la The Boys from Brazil.

The story unfolds in interviews with parents, kids, and co-workers. Numbers interrupt the narrative as test results reveal more offspring, up to #96.

A nurse who worked for Dr. Cline from 1981 to 1994 tells how it all happened. She gave patients questionnaires about traits they desired in a donor. Then shed go across the way to a hospital to collect samples from medical residents. Some couples would bring in a sperm sample, perhaps told that that it would be used or mixed with donor sperm.

A former physician colleague backs up the stories from the nurse, patients, and offspring. He adds how the layout of the office suite enabled Dr. Cline to collect and deliver his donations.

But the hospital samples were never used. In fact, Cline would have had to masturbate somewhere nearby while the women were waiting insemination. He would likely still be experiencing the after-effects of arousal as he was inserting the semen, one daughter said.

She recalled that shed be the only patient in the office, and the doc would duck out while she arranged herself in the stirrups.

Hed place his semen into a syringe and then place it at the base of my cervix. The fact that he was still on an endocrine high from ejaculation has no place in a medical setting. When my sons DNA test came back, my first words were I was raped and didnt even know it.

Added Jacoba,

What made him wake up every day and go into work and masturbate and place it into women without their consent?

But if the goal was to make his patients pregnant, the doctor did. The fact that he used his specimen to impregnate me made me sick to my stomach. On the other hand, because of his skills, I have twin daughters who are absolutely delightful. You cant be angry when you have what you always dreamed of, said one former patient.

Jacobas half-siblings share their emotional ups and downs, their words eerily echoing my own as I have struggled to accept, beginning in September 2018, that I, too, have a mystery family, the result of mysterious sperm donations. Since then, Ive been on several Facebook groups for NPEs not parent expected and read many stories, but none on the scale of Our Father.

It helps to connect with others. Especially useful was a recent study in the American Journal of Human Genetics from Christi Guerrini JD, MPH, from the Center for Medical Ethics and Health Policy at Baylor College of Medicine, Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services. I wrote about it here.

As I watched the progam and saw the numbers tick up for Dr. Clines offspring, my empathy for their angst began to ebb. Their reactions were overwhelmingly of anger and negativity, or at least that is what dominated Our Father. Perhaps it was like a Facebook page for people with the same disease dominated by those with the most dire experiences. I couldnt help but wonder without the horrifically egocentric fertility doctor, those half-siblings wouldnt exist.

Consider some of their comments:

Some of them recognize past clues and present commonalities:

Some of the siblings saw something more sinister. Every time we get a DNA match, we say it looks like one of the Cline boys or it looks like a Cline girl. Most of us have blond hair and blue eyes. I hate to say this, but it is almost like we are this perfect Aryan clan and its disgusting. The goal appeared to be to produce more whites because whites would eventually disappear.

All of the photos in the office were of Caucasian babies, said a sister named Julie. Added Jacoba, You wonder if the person who created you was a racist bigot who used my mom as a pawn, and he did it over and over and over again.

The Nazi hypothesis is as opposite as possible from the motivation behind some of the thousands of surprise-donor-conceived offspring like me from the New York City area, from the 1950s and 1960s. Our existence, in some cases, grew out of a desire to replace some of the six million Jews the Nazis killed during the second world war.

The number of Dr. Clines offspring may not even be known or knowable. But he did the deed. When forced to provide a DNA sample, the results showed that the probability that Jacoba is his biological child was beyond doubt: 99.9997 percent.

But in the end, he wasnt punished much. In 2016, Cline was only charged with two counts of obstruction of justice, to which he plead guilty. Technically, the court found, he wasnt sexually violating the women because they were his patients and had given permission. Although some of his offspring feel that their mothers had been raped, legally that claim couldnt hold up.

Dr. Cline was sentenced as a level 6 felon and fined $500, which is a slap in the fing face, said Jacoba.

But progress has been made. In 2018 illicit donor insemination became illegal in Indiana, although theres still no federal law. And dozens of more doctors have been caught using their own sperm.

My reactions to discovering one-half of my genetic parentage was different than the siblings in my father. Ive shared my story in Libby Copelands book The Lost Family, in several blog posts and articles for Genetic Literacy Project and with the New York Times Modern Love Podcast.

The feelings among my half-siblings vary.

Who was our biological father? Weve narrowed down our sperm donor to two of three brothers from a wonderful family that were excited to be part of, even in such a strange way. We look a lot alike. And well have an answer pretty soon, pending a recent match that filled in a few blanks, and also led to the discovery of a wonderful new cousin, half-niece, and possible brother or cousin.

Its weird, and adjusting took time, but Im thankful. Now that were at an age when we are starting to lose people, finding new siblings is a great gift. Thats no solace to many of the aggrieved victims of the deeply deceptive Dr. Cline. But it does illustrate that the proliferation of DNA tests can, in some circumstances, bring some joy and help expand a sense of family.

Ricki Lewis, PH.D is a writer for PLOS and author of the book The Forever Fix: Gene Therapy and the Boy Who Saved It. You can check out Rickiswebsiteand follow Ricki on Twitter@rickilewis

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Who is your real parent? Our Father on Netflix depicts the dark side of 'secret serial sperm donation'. My birth has a similar origin but with a more...

ByJill Rosen

TIME today named Michael Schatz, a computational biologist and one of the world's leading genomics experts, to its 2022 list of the 100 most influential people for his contributions to the first complete sequencing of the human genome, "the most complete look yet at the genetic script underlying the very nature of who we are as human beings."

A Bloomberg Distinguished Professor of computer science and biology at Johns Hopkins University, Schatz harnesses the power of computing to better understand human and agricultural genetics. His ongoing work to demystify the structure and function of genomes is leading directly to deeper knowledge of human diseases, targeted medical treatments and improved plants and crops.

Schatz shares TIME's honor with Telomere-to-Telomere Consortium colleagues Adam Phillippy, Karen Miga and Evan Eichler.

"Dr. Schatz embodies the highest aspirations of universities like Johns Hopkins and the impact they can make on the world," said Johns Hopkins University President Ron Daniels. "He has pushed the boundaries of computational biology to decode successfully one of the greatest mysteries of our species. This extraordinary feat of international interdisciplinary research will fuel scientific and medical advancements for decades to come."

Twenty years ago, Schatz was working in cybersecurity when he abruptly changed his career trajectory to genomics, inspired by breakthroughs coming from the Human Genome Project, the first attempt to decipher the human genome. Being integral to the ultimate completion of that project has been a dreamy affirmation of both that choice and what has become his life's work, being a pioneer in the "genomics revolution."

"The telomere-to-telomere project has been a capstone result for my 20-year endeavor to improve and complete the human genome," Schatz said. "Moving forward, I'm excited to consider how we will be able to use this new genome and the genomic technologies we developed to build it to improve so many aspects of society, from agriculture to health care, and especially our understanding of cancer.

"I also feel enormous gratitude to all my students, postdocs, lab members, colleagues and mentors that helped me to reach this recognition. I feel like I am accepting this award on behalf of all of them as much as for myself. And finally, I see this as a call to give back to the community to help support those that historically have not been able to participate in the genomics revolution."

As a Bloomberg Distinguished Professor, Schatz has appointments in both the Whiting School of Engineering and the Krieger School of Arts and Sciences, where divisional leadership was thrilled to learn about the TIME 100 honor.

"Mike is a dedicated and visionary researcher, whose discoveries will have a profound impact on basic research and on clinical practice," said Whiting Dean T.E. "Ed" Schlesinger. "Our ability to understand and quantify an individual's genome represents a major breakthrough, both in terms of understanding DNA's role in disease risk and in realizing the promise of personalized medicine. This is a well-deserved honor for Mike and his colleagues and I have no doubt that his achievements will benefit generations to come."

Ron Daniels

President, Johns Hopkins University

Added Krieger Dean Christopher S. Celenza: "This is well-deserved recognition for one of our remarkable scientists. His extraordinary work with the team assembling the first complete sequence of a human genome is profound. I know his research will create opportunities for new, life-changing discoveries."

Schatz joined Johns Hopkins in 2016, coming from Cold Spring Harbor Laboratory on Long Island in New York, where he was an associate professor in the Simons Center for Quantitative Biology, served as the co-director of the Undergraduate Research Program, and co-led the Cancer Genetics & Genomics Program in the CSHL Cancer Center.

Earlier this year it was announced that a team Schatz co-led had created a cloud-based platform that grants researchers easy access to one of the world's largest genomics databases. Known as AnVIL (Genomic Data Science Analysis, Visualization, and Informatics Lab-space), the new platform gives any researcher with an Internet connection access to thousands of analysis tools, patient records, and more than 600,000 genomes.

Vice Provost for Research Denis Wirtz said that type of collaborative spirit is typical of Schatz, whom he calls a "scientific tour de force."

"In addition to being a remarkable scientist, Mike is also a tremendous colleague and collaborator," Wirtz said. "This is an incredible recognition of the type of team science that is defining the future of research."

Lauren Gardner, a civil and systems engineering professor in the Whiting School of Engineering, made TIME's list in 2020 for her work developing the university's COVID-19 dashboard, which became the Coronavirus Resource Center.

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Michael Schatz among 'TIME 100' most influential people in the world - The Hub at Johns Hopkins

Their team, the Telomere-to-Telomere (T2T) Consortium, published their work in Science magazine in March 2022, detailing how they filled in gaps in the sequence of the human genome. (The article had another Terp author, computer scientist Sergey Koren 02, M.S. 05, Ph.D. 12.)

The T2T researchers used a mixture of new "long read" DNA sequencing technologies to map a gap-free sequence of the roughly 3 billion bases (or letters) in human DNA.

In making the announcement for Time, Jennifer Doudna, a biochemist and winner of the 2020 Nobel Prize in Chemistry, wrote that the team had uncovered the human genomes dark matter, which had been missed by earlier genome sequencing.

The Human Genome Project, which announced it had finished decoding the basic chemical instructions for life in 2003, skipped a significant section of the genome composed of highly repetitive sequences that were mostly considered junk DNA at the time. Researchers today know theres more to it than that, making T2Ts work crucial.

The complete human genome sequence is an invaluable resource that may provide new insights into the origin of diseases and how we can treat them, Doudna said. It also offers the most complete look yet at the genetic script underlying the very nature of who we are as human beings.

Phillippy is head of the genome informatics section at the institute, where his lab has developed numerous widely used tools for the problems of genome assembly, alignment, clustering, forensics and metagenomics.

Schatz is a Bloomberg Distinguished Professor of computer science and biology at Johns Hopkins, where he uses computing to better understand human and agricultural genetics, leading to deeper knowledge of human diseases, targeted medical treatments and improved plants and crops.

The success of the T2T project demonstrates the power of interdisciplinary science and represents the culmination of decades of advances in computational techniques for analyzing genomes, many of which were pioneered by Adam and Mike, said Mihai Pop, a professor of computer science, director of the University of Maryland Institute for Advanced Computer Studies and a co-adviser to Schatz.

Pop said that during their time at CBCB, Phillippy and Schatz fostered a collegial and collaborative environment that still characterizes the centeran environment that has contributed to the success of many other outstanding scientists.

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Alums Named to Time Magazine's 2022 List of 100 Most Influential - Maryland Today

Genome Insight CEO Ju Young-seok received the Human Genome Organizations (HUGO) Chen Award of Excellence.

HUGO awards the Chen Award of Excellence annually to two young scientists who have extraordinary work or suggested a new treatment in human genomics.

Ju, a professor at the Korea Advanced Institute of Science and Technology (KAIST), is the second Korean to win the award after V. Narry Kim, a professor at Seoul National University (SNU).

Ju was selected as the 2020 Chen Award of Excellence recipient, but the awarding ceremony was postponed due to the Covid-19 pandemic. Ju received the award on Tuesday.

This is a second winning award as a Korean, and I am honored. I will strive to advance whole-genome sequencing (WGS) and the related industry, Ju said at the awarding ceremony.

Ju will have a chance to present a lecture at the Human Genome Meeting, hosted by HUGO, in Tel Aviv, Israel.

Ju is a physician-scientist who graduated from SNU College of Medicine. He serves as a professor at the Graduate School of Medical Science and Engineering at KAIST.

In January 2020, Ju and another physician-scientist, Lee Jeong-seok, co-founded Genome Insight.

Genome Insight specializes in analyzing and interpreting WGS big data, designed to provide accurate diagnosis and customized treatment for cancer and rare diseases caused by genetic mutations. The company is headquartered in San Diego in the U.S., and its R&D center is located in Seoul and Daejeon, Korea.

A Taiwanese physician-scientist established Chen Award, Yuan-Tsong Chen.

Chen is director of the Institute of Biomedical Sciences at Academia Sinica, Taiwan, and a professor of pediatrics and genetics at Duke University Medical Center, the U.S.

HUGO also gives Chen Award for Distinguished Academic Achievement in Human Genetic and Genomic Research to one scientist who made an outstanding performance in human genomics. The awardee gets $10,000. In 2017, SNUs Kim won the award as the first Korean.

HUGO also awards the Chen Award of Excellence to two young scientists with a monetary award of $5,000 each. One award goes to a person residing outside Asia and the other to someone residing in Asia whose career years have not passed 15 years since receiving their highest earned degree.

HUGO is a non-profit international organization established in 1988. It conducts international academic exchanges and builds a joint research database. It played a crucial role in the Human Genome Project completed identifying all the nucleotide sequences of the human genome in 2003.

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Genome Insight CEO Ju wins Chen Award as 2nd Korean - KBR

Several decades of nutrition research have shown us that no one-size diet fits all and since we are all unique, healthcare nutrition which applies to all doesn't fit everyone. Many factors come into play as to why it may happen but the main reason has something to do with our genes or genetic makeup.

Genomic testing determines the interplay between genes, nutrition and health. It helps personalise the diet and nutrition and provides you with a blueprint for optimal health and wellness.

What do genomic tests evaluate?

Genomic tests identify the specifics of our DNA, in terms of change in our chromosomes, associated genes and/or protein . Nutrigenetic DNA tests examine the genes and variants of these genes involved in specific nutrients and their metabolism.

What can genomic testing tell you?

Genomic testing can reveal a wide range of information, from your ancestry to your health and family history. For instance, genetic testing can screen and diagnose complex diseases, find out the risk and predisposition to disease, identify hereditary disease patterns and even help in creating a course on treatment, revealing a proclivity for nutrient deficiency or toxicity, food sensitivities and even whether you're at risk for nutrition-related diseases.

In an interview with HT Lifestyle, Dr Saima Naz Khan, Senior Manager- Scientific Affairs at Genes2Me Pvt Ltd, revealed, Every individual requires a balanced diet which should comprise macronutrients (carbohydrates, proteins, fats and fibers) and micronutrients (minerals and vitamins) but no individual neither requires nor responds to the exact amount of these nutrients; therefore, theres no one-size-fits-all diet. While several factors are at play, genetics plays a crucial role in our nutrition. Genomic testing can reveal why certain nutrients or diets works for an individual and why it doesnt work for others. There are nutrigenomics services that are truly useful for anyone who wants to be proactive about their health.

She added, A nutrigenomics counsellor may be able to advise you on certain eating patterns that will or will not work well for you based on your individual genetic makeup. For example, because of genomic tendencies for fat metabolism, gene variants may indicate that your body would not benefit from a vegan diet or would not adapt well to a keto diet. A nutrigenomic test can identify your personal best sources of macronutrients and micronutrients. Choosing a diet based on your genetic tendencies can help you achieve your health objectives.

Elaborating upon the same, Dr Akansha Sahay, General Physician at Tattvan E-clinic, said, Nutrigenomics, a science that studies interaction of nutrition and genes is flourishing and changing lives. DNA test for diet and nutrition can give us information about foods that can be healthy for us and ones which can pose a risk of various health conditions. Choosing a diet based on your genetic tendencies can help you to achieve your desired health goals.

She listed the factors whose information can be provided by DNA testing:

1. Vitamin and mineral deficiencies - calcium, iron, vitamin A, vitamin B, and more.

2. Bone mineral density (BMD)

3. Body Mass Index (BMI)

4. Response of macronutrients like carbohydrates, protein, fats and fibers on your weight.

5. Salt intake and blood pressure sensitivity

What is a DNA-based diet?

Dr Akansha Sahay explained, These diets are based on nutrigenomics, the study of the relationship between nutrition and the human genome. Examining ones DNA can help determine which diet would be most appropriate for ones health. A genetic test is undertaken to determine the correlation between a persons genes and nutrition level for their overall health. This info is primarily used by experts to pinpoint the best diet for them. Nutrigenomics is a wonder by which we can even correct cardiovascular disease, obesity, type 1 diabetes and other lifestyle diseases,Your DNA can influence not only your food behaviour, but is also capable of altering the expression of various hormones and enzymes critical to metabolism. These determine your response to diet, predisposition to weight gain and metabolism.

She said, Nutrigenomics (also known as nutritional genomics) is broadly defined as the relationship between nutrients, diet and gene expression. Phenylketonuria is an example of single gene mutation. About the examples of nutrigenomics, she said, Phenylketonuria patients should avoid phenylalanine-rich food. Many Asian populations have the problem of deficiency of the aldehyde dehydrogenase enzyme, which is responsible for metabolism of ethanol.

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What is DNA-based diet? Here's how our genetic makeup is connected to nutrition - Hindustan Times

Summary: Researchers have identified a mechanism shared by mutations in the SHANK3 and ADNP genes. The genes have been associated with the development of ASD and schizophrenia.

Source: Tel Aviv University

Researchers at Tel Aviv University, led by Prof. Illana Gozes from the Department of Human Molecular Genetics and Biochemistry at the Sackler Faculty of Medicine and the Sagol School of Neuroscience, have unraveled a mechanism shared by mutations in the genes ADNP and SHANK3, which cause autism, schizophrenia, and other conditions.

The researchers also found that an experimental drug previously developed in Prof. Gozes lab is effective in lab models for these mutations and may be suitable for treating a range of rare syndromes that impair brain functions.

According to the researchers, the encouraging results may lead to effective treatments for a range of rare syndromes that impair brain functions and cause autism, schizophrenia, and neurodegenerative diseases like Alzheimers.

Participants in the study: Dr. Yanina Ivashko-Pachima, Maram Ganaiem, Inbar Ben-Horin-Hazak, Alexandra Lobyntseva, Naomi Bellaiche, Inbar Fischer, Gilad Levy, Dr. Shlomo Sragovich, Dr. Gidon Karmon, and Dr. Eliezer Giladi from the Sackler Faculty of Medicine and Sagol School of Neuroscience at TAU, Dr. Boaz Barak from the School of Psychological Sciences, Gershon H. Gordon Faculty of Social Sciences and the Sagol School of Neuroscience at TAU, and Dr. Shula Shazman from the Department of Mathematics and Computer Science at the Open University.

The paper was published in the scientific journalMolecular Psychiatry.

Prof. Gozes: Some cases of autism are caused by mutations in various genes. Today we know of more than 100 genetic syndromes associated with autism, 10 of which are considered relatively common (though still extremely rare).

In our lab we focus mainly on one of these, the ADNP syndrome, caused by mutations in the ADNP gene, which disrupt the function of the ADNP protein, leading to structural defects in the skeleton of neurons in the brain.

In the current study, we identified a specific mechanism that causes this damage in mutations in two different genes: ADNP and SHANK3 a gene associated with autism and schizophrenia. According to estimates, these two mutations are responsible for thousands of cases of autism around the world.

To start with, the researchers obtained cells from patients with ADNP syndrome. They discovered that when the ADNP protein is defective, neurons with faulty skeletons (microtubules) are formed, impairing brain functions. They also found, however, that ADNP mutations take different forms, some of which cause less damage.

Prof. Gozes, who is also Director of the Adams Super Center for Brain Studies at TAU, explains: We discovered that in some mutations, a section added to the protein protects it and reduces the damage by connecting to a control site of the neurons skeletal system. We know that this same control site is found on SHANK3 a much studied protein, with mutations that are associated with autism and schizophrenia.We concluded that the ability to bond with SHANK3 and other similar proteins provides some protection against the mutations damaging effects.

At the next stage of the study, the researchers found additional sites on the ADNP protein that can bond with SHANK3 and similar proteins. One of these sites is located on NAP, a section of ADNP which was developed into an experimental drug (Davunetide) by Prof. Gozes lab.

Moreover, the researchers demonstrated that extended treatment with Davunetide significantly improved the behavior of model animals with autism caused by SHANK3.

Prof. Gozes: In previous studies we showed that Davunetide is effective for treating ADNP syndrome models. The new study has led us to believe that it may also be effective in the case of Phelan McDermid syndrome, caused by a mutation in SHANK3, as well as other syndromes that cause autism through the same mechanism.

The experimental drug Davunetide was recognized by the FDA as an orphan and rare pediatric drug for future treatment of the developmental syndrome ADNP and is protected by patents through Ramot, the technology transfer company at Tel Aviv University and exclusively licensed to ATED Therapeutics Ltd.

ATED Therapeutics Ltd. (ATED)

ATED was formed around the work of Dr. Gozes by experienced business managers to develop Davunetide for clinical use. ATED is led by Dr. Jeff R. Swarz as CEO, Joe Chiarelli as CFO, an experienced clinical trial Chief Medical Officer, and Dr. Gozes as Chief Scientific Officer.

ATEDs broad focus is on diseases of the central nervous system (CNS). Our initial target is achronic, debilitatingform of autism called ADNP Syndrome (activity-dependent neuroprotective protein) that affects about 3,000-5,000 patients (ages 1-17) worldwide. The lead compound, Davunetide, is patented, safe, non-toxic, andhas been tested in over 300 adult patients. As there is no treatment for ADNP Syndrome, it has rare pediatric and orphan drug designation from the FDA.

Author: Noga ShaharSource: Tel Aviv UniversityContact: Noga Shahar Tel Aviv UniversityImage: The image is in the public domain

Original Research: Open access.SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism by Yanina Ivashko-Pachima et al. Molecular Psychiatry

Abstract

SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism

De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential for synaptic activity.

The ADNP MT-associating fragment NAPVSIPQ (called NAP) contains an MT end-binding protein interacting domain, SxIP (mimicking the active-peptide, SKIP). We hypothesized that not allADNPmutations are similarly deleterious and that the NAPV portion of NAPVSIPQ is biologically active.

Using the eukaryotic linear motif (ELM) resource, we identified a Src homology 3 (SH3) domain-ligand association site in NAP responsible for controlling signaling pathways regulating the cytoskeleton, namely NAPVSIP.

Altogether, we mapped multiple SH3-binding sites in ADNP. Comparisons of the effects of ADNP mutations p.Glu830synfs*83, p.Lys408Valfs*31, p.Ser404* on MT dynamics and Tau interactions (live-cell fluorescence-microscopy) suggested spared toxic function in p.Lys408Valfs*31, with a regained SH3-binding motif due to the frameshift insertion.

Site-directed-mutagenesis, abolishing the p.Lys408Valfs*31 SH3-binding motif, produced MT toxicity. NAP normalized MT activities in the face of all ADNP mutations, although, SKIP, missing the SH3-binding motif, showed reduced efficacy in terms of MT-Tau interactions, as compared with NAP.

Lastly, SH3 and multiple ankyrin repeat domains protein 3 (SHANK3), a major autism gene product, interact with the cytoskeleton through an actin-binding motif to modify behavior.

Similarly, ELM analysis identified an actin-binding site on ADNP, suggesting direct SH3 and indirect SHANK3/ADNP associations. Actin co-immunoprecipitations from mouse brain extracts showed NAP-mediated normalization of Shank3-Adnp-actin interactions.

Furthermore, NAP treatment ameliorated aberrant behavior in mice homozygous for theShank3ASD-linked InsG3680 mutation, revealing a fundamental shared mechanism between ADNP and SHANK3.

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Mechanism Shared by Mutations in Different Genes Associated With Autism, Schizophrenia, and Other Conditions Discovered - Neuroscience News