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Category Archives: Human Genetics

Researchers discover new genetic brain disease – The University of Manchester

Posted: October 30, 2019 at 4:45 am

The gene encodes an enzyme which produces a lipid (a fatty molecule) that is used to build cell membranes in every cell of the body. The lipid produced by the enzyme is particularly abundant in brain cell membranes.

A team in Amsterdam was also able to identify abnormal biochemical signatures in the cells and blood of the patients who donated samples. It is hoped that these signatures could be used as markers to help diagnose patients with the condition.

Dr Banka runs a Clinical Genetics clinics at Saint Marys Hospital, which is part of MFT. His research group uses a combination of genomics, clinical and functional studies to identify the cause of disease in patient with unsolved genetic conditions.

Dr Banka said: Saint Marys Hospital is one of the leading NHS and internationally recognised large-scale providers of genomic services. Being able to combine my clinical role at the hospital, with my academic research at The University of Manchester, has been crucial to this outcome.

This link between academia and the NHS means we can translate research from the bench to the bedside, for the benefit of our patients.

The identification of more patients in future will help in better understanding of the effects of HSP.

It is thought that studying this crucial gene will help in understanding other types of HSP and other neurodegenerative diseases.

The paper was published in the neurological journal Brain.

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GM could be decisive: An open letter to the Green Party from young NZ scientists – The Spinoff

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More than 150 New Zealand scientists under 30 have signed a letter to the Green Party urging a rethink of its stance on the regulation of genetic modification. The full text of the letter follows.

To the members and supporters of the Green Party of Aotearoa New Zealand and their representatives in government

Climate change is one of the greatest crises in human history, and our current law severely restricts the development of technologies that could make a vital difference. In 2003 the 1996 Hazardous Substances and New Organisms Act was modified to tightly regulate research into genetic modification (GM). This legislation and the surrounding public debate was driven by uncertainty about the risks that these new technologies posed to biodiversity and human health, and resulted in creating one of the toughest regulatory environments in the world for this field of research.

We, an emerging generation of New Zealand scientists with expertise in and/or undertaking research in the biological sciences*, are writing to request that the Green Party reconsider its position on the regulation of these technologies. We are addressing this letter to the Greens because of a history of leading in science-based policy such as climate action, even when that path is difficult. We believe that GM based research could be decisive in our efforts to reduce New Zealand and global climate emissions as well as partially mitigating some of the impacts of climate change. At the same time, we emphasise that potential reduction of impact is not a substitute for emission reduction.

The period since the introduction of the 2003 legislation has seen important GM related research in the areas of agricultural efficiency, carbon sequestration, and alternative protein production. The existing regulation in New Zealand inhibits application of advances such as these, blocking not only the development of green technology, but the potential for a just transition away from extractive and polluting industries. New Zealand has the opportunity to be a world leader in such a transition: for example, the development and demonstration of effective technologies to reduce agricultural emissions could have an international impact and set an example for other countries.

While such a powerful technology as targeted genetic modification certainly requires controls, existing frameworks do not enable public and environmental benefits from these technologies to be realised. The gene editing expert advice panel supported by The Royal Society Te Aprangi, the Prime Ministers Chief Science Advisor, and the interim climate change committee have recently called for public discussion on potential reform of New Zealands laws around modern gene editing techniques.

As a confidence and supply member of the current government the Greens have the ability to drive this reform: the members can persuade the party to reconsider its policy position, and the Members of Parliament can influence the government it supports to revise the legislation. The Greens have been strong advocates of both climate action and evidence based policy informed by science. In this light we call upon its members, supporters, ministers, and MPs to add their voices to the cause of a science-based approach to climate, on behalf of the people and environment of both Aotearoa and the world.

Ng mihi


Kyle Webster, University of Auckland, Bio-nanotechnology

Luke Stevenson, Victoria University of Wellington, Biotechnology

Emilie Gios, University of Auckland, Microbial ecology

Morgane Merien, University of Auckland, Biological Sciences Entomology

Lucie Jiraska, University of Auckland, Environmental Microbiology

Victor Yim, University of Auckland, Peptide chemistry

Zach McLean, University of Auckland, Genetic engineering

Declan Lafferty, Plant and FoodResearch/University of Auckland, Genetics and Molecular Biology

Samarth Samarth, University of Canterbury, Plant Biology

Juliane Gaviraghi Mussoi, University of Auckland, Avian Behaviour

Alex Noble, University of Canterbury, Biology

Kelsey Burborough, University of Auckland, Genetics

Matthew Mayo-Smith, University of Auckland, Plant Molecular Biology

Moritz Miebach, University of Canterbury, Plant-microbe interactions

Olivia Ogilvie, University of Auckland, Food Biotech / Biochemistry

Rachel Bennie, University of Canterbury, Human Toxicology

Sean Mackay, University of Otago, Chemistry and Nanotechnology

Georgia Carson, Victoria University of Wellington, Cell and Molecular Biology

Ruby Roach, Massey University

Jeremy Stephens, Massey University, Biology

Zidong (Andy) Li, Massey University, Molecular Cancer Biology

Aqfan Jamaluddin, University of Auckland, Molecular Pharmacology

Michael Fairhurst, Victoria University of Wellington, Microbiology

Nikolai Kondratev, Massey University, Plant Biology

Mariana Tarallo, Massey University, Plant pathology

Ellie Bradley, Massey University, Plant pathology

Mercedes Rocafort Ferrer, Massey University, Plant pathology

Yi-Hsuan Tu, Massey University, Biochemistry & Microbiology

Sean Bisset, Massey University, Biochemistry

Patrick Main, Massey University, Biological sciences

Abigail Sharrock, Victoria University of Wellington, Biotechnology

Alvey Little, Victoria University of Wellington, Molecular Microbiology

William Odey, Victoria University of Wellington, Biotechnology

Gabrielle Greig, Victoria University of Wellington, Molecular Microbiology

Melanie Olds, Victoria University of Wellington, Biotechnology

Jennifer Soundy, Victoria University of Wellington, Biological Sciences

Matire Ward, Victoria University of Wellington, Cell and molecular bioscience

Tom Dawes, Victoria University of Wellington, Plant Ecology

Hamish Dunham, Victoria University of Wellington, Biomedical science

Amy Alder, Victoria University of Wellington, Neuroscience

Caitlin Harris, University of Otago, Plant genetics

Lucy Gorman, Victoria University of Wellington, Coral reef biology

Vincent Nowak, Victoria University of Wellington, Biotechnology

Brandon Wright, University of Otago, Biochemistry

Anna Tribe, Victoria University of Wellington, Cancer cell biology

Conor McGuinness, University of Otago, Breast Cancer

Genomics/Immunology Kelsi Hall, Victoria University of Wellington, Biotechnology

Andrew Howard, University of Waikato, Biochemistry

Mitch Ganley, Victoria University of Wellington, Biotechnology/vaccines

Matt Munro, Victoria University of Wellington, Biomedical Science

Prashath Karunaraj, University of Otago, Genetics

Pascale Lubbe, University of Otago, Evolutionary genetics

Mackenzie Lovegrove, University of Otago, Genetics, Insect evolution

Nicholas Foster, University of Otago, Ecology

Taylor Hamlin, University of Otago, Antarctic Marine Ecosystem & Movement Ecology

Fionnuala Murphy, Massey University, Proteomics

Amanda Board, University of Canterbury, Protein Biochemistry

Esther Onguta, Massey University, Food Technology

Nomie Petit, University of Auckland, Proteins

Liam Le Lievre, University of Otago, Plant Reproduction

James Hunter, University of Otago, Ecology

Samarth Kulshrestha, University of Canterbury,

Rebecca Clarke, University of Otago, Whole body regeneration

Sarah Killick, University of Auckland, Environmental Science

Stephanie Workman, University of Otago, Developmental Genetics

Erik Johnson, University of Otago, Oceanography

Declan Lafferty, University of Auckland, Molecular Biology

Laurine van Haastrecht, Victoria University of Wellington, Glaciology

Leo Mercer, Victoria University of Wellington, Environmental Studies

Aidan Joblin-Mills, Victoria University of Wellington, Chemical Genetics

Gabrielle Keeler-May, University of Otago, Marine Science

Aqfan Jamaluddin, University of Auckland, Pharmacology

Spencer McIntyre, University of Auckland, Biological Sciences

Sarah Inwood, University of Otago, Genetics

Isabelle Barrett, University of Canterbury, Freshwater ecology

Olivia Angelin-Bonnet, Massey University, Biostatistics

Hannah McCarthy, Massey University, Plant Pathology

Sofie Pearson, Massey University, Plant Science

Zac Beechey-Gradwell, Lincoln University, Plant physiology

Hannah Lee-Harwood, Victoria University of Wellington, Biotechnology

Euan Russell, University of Otago, Microbiology


Kelly Styles, University of Auckland, Biological Sciences

Merlyn Robson, University of Auckland, Virology

Andra Popa, University of Auckland

James Love, University of Auckland, Bioinformatics

Evie Mansfield, University of Auckland, Molecular Microbiology

Ash Sargent, University of Auckland, Immunology

Sabrina Cuellar, University of Auckland, Plant Genetics

Renji Jiang, University of Canterbury, Plant pathology

Morgan Tracy, University of Canterbury, Ecology

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Genetic testing could keep you healthy. But what about personal info? – Deseret News

Posted: at 4:45 am

LEHI If given a chance, who wouldnt want to spend a few bucks to find out if theyre at heightened risk for one day having to confront some life-changing or life-ending medical malady?

Thats the concept fueling an explosion in direct-to-consumer genetic testing and one thats also elevating ethical debates about how this most personal of information should be interpreted and protected.

Utah-born is the latest entry into a growing list of companies offering health-focused genetic testing an industry expected to grow to $20 billion annually in the next few years.

While best known and an industry leader for its expertise in providing answers to the Where am I from? question, Ancestry will now expand its genetic testing resources to help people anticipate future health issues and help address, Whats going to make me sick?

Last week, the company that launched more than 30 years ago as a family history search service, later adding DNA testing to help customers identify their geographic ancestral roots, announced its new, health-focused genetic testing service.

AncestryHealth will offer two levels of genetic testing that the company said will deliver actionable insights that can empower people to take proactive steps in collaboration with their health care provider to address potential health risks identified in their genes and family health history.

Ancestry CEO Margo Georgiadis said the new genetic tests will help clients proactively manage their health care needs, armed with new insight on what conditions they may be predisposed for, based on genetic evidence.

Your genes dont need to be your destiny, Georgiadis said in a statement. Understanding your familial and inherited health risks can help you take action with your doctor to improve your chances of better health outcomes.

For more than three decades, Ancestry has empowered journeys of personal discovery to enrich lives. In the same way that knowledge of your family and ethnicity helps you understand your past to inspire your future, knowledge of your genetic health profile and any associated risks can help you be proactive in managing the future for you and your family.

The two testing products, according to the company, include AncestryHealth Core, which uses the companys current genotype genetic assessment technique to detect genetic differences and deliver personalized reports related to health conditions such as heart disease, hereditary cancers, blood-related disorders, and risks for carrier status of health conditions, such as Tay-Sachs disease. The one-time test costs $149 and also includes the companys family history report. Those who have already submitted a biologic sample to the company can get the new genetic report for $49.

While likely not available until sometime in 2020, the AncestryHealth Plus will use more current, genetic sequencing technology that will provide greater coverage of DNA differences for each condition and more risk categories such as those related to potentially developing heart disease, cancers, and disorders related to blood, the nervous system and connective tissues. The sequencing test will require a $199 activation fee, which the company said includes the first six months of membership and an additional $49 membership fee every six months. Existing Ancestry customers will be able to upgrade to AncestryHealth Plus for an initial payment of $49.

Ancestrys testing regimen will assess genetic samples and indicate predispositions for high cholesterol and cardiomyopathy, which can lead to heart disease; hereditary indicators for breast, ovarian, colon and uterine cancers; and blood disorders including abnormal clotting and iron overload. The testing can also determine if the sample donor is a gene carrier for cystic fibrosis, sickle-cell anemia or Tay-Sachs disease, a fatal nervous system disorder that most commonly occurs in children.

Unlike its competitor, 23andMe, which has earned U.S. Food and Drug Administration approval for providing genetic test results directly to customers without a physicians participation, Ancestrys genetic testing service requires a physicians order to conduct the tests and the company says it has contracted with a private network of independent physicians and genetic counselors who participate in the process. Ancestrys health testing service also connects customers to educational information, including access to genetic counseling resources and provides printable and consumer and physician-ready reports that provide guidance for next steps an individual and their health care provider can take together.

Lynn Jorde, chairman of the University of Utahs Department of Human Genetics and executive director of the Utah Genome Project, said while labs are now capable of sequencing the entirety of the human genome some 3 billion genetic basis pairs the microarray technique currently used by Ancestry evaluates a small window of genes that, if a variation is found, have a viable medical response.

What theyre looking at is specific changes in the DNA that we know about in specific instances ... and are often called actionable genes, Jorde explained. If you have a disease causing variant here, there is actually something we can do about it.

Jorde said while some genetic markers, like those for cystic fibrosis, indicate a high probability that you have or will develop that condition, many more are merely suggestive.

The predictive power of genetic testing is getting better and better, but it will never be perfect, Jorde said. For many of these conditions, there are nongenetic components that impact risk.

Jorde said things like environment, diet and exercise/activity level can play a significant role in an individuals risk of developing an illness or disease.

Teneille Brown is a professor at the University of Utahs S.J. Quinney College of Law and an expert in health law and medical ethics. In an interview, she noted direct-to-consumer genetic testing services, now being offered by dozens of companies according to the National Institute of Health, are occupying a space thats in between current regulatory boundaries aimed at protecting individuals privacy rights.

In the research realm, any federally funded projects are subject to stringent privacy rules, Brown said. That is also the case for health care institutions that handle genetic material, under (Health Insurance Portability and Accountability Act) rules.

But the big databases being built by testing companies are outside of the federal funding process and are not health care providers, so the HIPAA rules dont apply, Brown said.

Ancestry appears to underscore this by noting, in its user agreement, that it is not a covered entity under HIPAA rules.

Brown noted that in addition to unanswered questions about privacy protections, genetic test results can lead to deep emotional impacts for tested individuals, either through the discovery of gene markers that are suggestive of some future medical challenge or, less obviously, when a clean test is returned, which may provide an inaccurate suggestion that theres nothing to worry about.

Theres a huge problem when it comes to understanding what these risk scores mean, Brown said. The predictive values of these results is widely variable, including what is, or is not, implied by failure to find a specific marker.

Brown said genetic testing companies have wide-ranging policies regarding sharing an individuals genetic test results or stored biologic samples with third-party researchers. Ancestry, for example, says it will only share your information if youve given them specific permission to do so, through its informed consent agreement.

While the regulatory world is lagging behind the fast-moving development of genetic testing technology, Brown said she believes the bigger companies, including Ancestry, are working to create appropriate protections for their customers. And, she added, the growing body of knowledge being accumulated by this work could lead to groundbreaking advancements in treatments for serious diseases.

These companies might play a role in developing amazing drugs and therapies, Brown said. Collectively, they are adding all of this amazing content, providing pedigrees and information and incredibly powerful databases ... and a lot of good can come of it.

Its not at all sinister, but we need consumers to know what theyre submitting and being diligent about potential secondary uses of that data. More robust consent requirements for users and strict limitations for secondary uses are certainly in order.

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Botswana Was The Ancestral Homeland Of All Humans, Claims Study – Mashable India

Posted: at 4:45 am

Anatomically modern humans (AMH) first walked on Earth roughly 200,000 years ago, in Africa. The abbreviation is a phrase used to distinguish Homo sapiens from other extinct hominins such as Neanderthals and Denisovans. The exact location of the first evolved AMH has been unclear for years and now, scientists have resolved it using a genetic analysis.

SEE ALSO: Scientists Piece Together A Skeleton Sketch Of An Ancient Human Relative Using DNA

In the study published in Nature, a group of Australian, Namibian, South African and South Korean researchers found out that northern Botswana, specifically the region south of the Zambezi river, is most likely the ancestral homeland of all humans. Combining multiple fields of anthropology, such as ethno-linguistics, genetics and climate reconstructions, the researchers were able to arrive to a conclusion that our first Homo sapien ancestors emerged from Makgadikgadi-Okavango, the palaeo-wetland of southern Africa.

Prior to the current study, fossil records seemed to indicate it was eastern Africa where the AMHs actually originated. However, now, genetic analysis suggests the location was southern Africa. The study strongly focused on mitochondrial DNA called mitogenomes, sequencing 198 southern Africans and a total of 1217 mitogenomes. These were, then, ethno-linguistically classified as either KhoeSan (those who practice foraging and have a click in their languages) or non-KhoeSan.

SEE ALSO: This Is What People From The Indus Valley Civilization May Have Looked Like

The researchers used phylogenetic analysis (studying the genes to determine genetic evolution) along with language families to reconstruct geographical population dispersals and their common ancestry. This determined that the first genetic lineage settled in the southwest region of the Zambezi river and diverged from here just 60,000 to 70,000 years ago. The paper also states that the Kalahari region in the greater Zambezi river basin had a crucial role in shaping the emergence and pre-history of AMHs.

The methodology of analysis itself has been criticized with many pointing out that mitogenomes are not entirely representative of a humans genetic makeup. There could also be multiple ancestral homelands if the fact that Homo sapiens could have evolved independently in multiple places is taken into consideration. The study authors accept this in the paper.

SEE ALSO: DNA shows humans first mated with Neanderthals 60,000 years ago

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Utah researchers discover link between certain brain cells and anxiety, OCD –

Posted: at 4:45 am

SALT LAKE CITY Mental health is blamed for a lot of issues plaguing society these days, but scientists and biologists still know very little about whats happening inside the brain that brings on problems in certain people.

A group of researchers at the University of Utah, however, may now have a clue.

Theyve identified a link between a group of specialized brain cells, called Hoxb8-lineage microglia, and obsessive compulsive disorder and anxiety in mice.

Similar to humans, female mice are more susceptible to the anxiety-related diseases, though symptoms were observed in male mice, too. The discovery could lead to the development of drugs better suited to treat and/or prevent anxiety and OCD.

It opens up a new avenue for thinking about anxiety, said Dimitri Trnkner, a lead author of the study and assistant biology professor at the U. Since we have this model, we have a way to test new drugs to help these mice and hopefully at some point, this will help people.

The findings suggest a link between biological sex hormones (estrogen and progesterone) and genetics, two major risk factors for anxiety-related disorders in humans, according to the study published this week in Cell Reports.

Until now, it was unknown whether this subset of microglia, which play a crucial role in brain development in the womb, had any other function at all. The new findings build upon previous mice studies conducted by Nobel laureate Mario Capecchi, also a lead author in the new research.

Capecchi had long suspected this subset of microglia was special in some way, but researchers didnt pick up on certain behaviors related to anxiety, such as overgrooming, until this time around its the first study to describe the role of microglia in OCD and anxiety in this way.

We didnt really know what to make of the fact that mice without Hoxb8 appear so normal, until we noticed that they groom significantly more and longer than what would be considered healthy, said Capecchi, a distinguished professor of human genetics at the U.

To test whether sex hormones drove OCD and anxiety symptoms, Trnkner and his colleagues manipulated estrogen and progesterone levels in the mice. They found that at male-levels, the OCD and anxiety behaviors in female mice resembled the male response, and at female hormone levels, the OCD behaviors in male mice looked more like the females severe symptoms, and showed signs of anxiety.

Scientists want to help these people to get their lives back.Dimitri Trnkner

We have a good understanding of how anxiety is produced in people, but cannot do experiments in people, Trnkner said. Of all models, I have great faith that mice are one of the best models, as they are so similar to people.

He said some of the mice had significant hair loss, were more easily stressed out, or lost their natural fight-or-flight response mechanisms without the protective presence of the microglia in their brains.

It shows that the two phenomena are related.

Researchers have long suspected that microglia have a role in anxiety and other neuropsychological disorders in humans because this type of cell can also release substances to harm neurons.

Its surprising to see that (the microglia) are not causing it, but they can protect from it, Trnkner said, adding that researchers and biologists now have an explanation as to why anxiety-related diseases are more common in women.

This news should give hope ... for many reasons, he said.

Science has long tried to find solutions for people who deal with the life-altering mental illnesses, and Trnkner said this puts everyone that much closer to new drugs to treat them, particularly anxiety.

Scientists want to help these people to get their lives back, he said.

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Genetic Study: Shared Molecular Pathway Might Influence Susceptibility to Lack of Oxygen Caused by Sleep-disordered Breathing and Other Lung Illnesses…

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Researchers have identified 57 genetic variations of a gene strongly associated with declines in blood oxygen levels during sleep. Low oxygen levels during sleep are a clinical indicator of the severity of sleep apnea. The study, published today in the American Journal of Human Genetics, was funded by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health.

A persons average blood oxygen levels during sleep are hereditary, and relatively easy to measure, says study author Susan Redline, MD, senior physician in the Division of Sleep and Circadian Disorders at Brigham and Womens Hospital, and professor at Harvard Medical School, in a release. Studying the genetic basis of this trait can help explain why some people are more susceptible to sleep disordered breathing and its related morbidities.

When we sleep, the oxygen level in our blood drops, due to interruptions in breathing. Lung and sleep disorders tend to decrease those levels further, and dangerously so. But the range of those levels during sleep varies widely between individuals and, researchers suspect, is greatly influenced by genetics.

Despite the key role blood oxygen levels play in health outcomes, the influence of genetics on their variability remains understudied. The current findings contribute to a better understanding, particularly because researchers looked at overnight measurements of oxygen levels. Those provide more variability than daytime levels due to the stresses associated with disordered breathing occurring during sleep.

The researchers analyzed whole genome sequence data from the NHLBIs Trans-Omics for Precision Medicine (TOPMed) program. To strengthen the data, they incorporated results of family-based linkage analysis, a method for mapping genes that carry hereditary traits to their location in the genome. The method uses data from families with several members affected by a particular disorder.

This study highlights the advantage of using family data in searching for rare variants, which is often missed in genome-wide association studies, says James Kiley, PhD, director of the Division of Lung Diseases at NHLBI. It showed that, when guided by family linkage data, whole genome sequence analysis can identify rare variants that signal disease risks, even with a small sample. In this case, the initial discovery was done with fewer than 500 samples.

The newly identified 57 variants of the DLC1 gene were clearly associated with the fluctuation in oxygen levels during sleep. In fact, they explained almost 1% of the variability in the oxygen levels in European Americans, which is relatively high for complex genetic phenotypes, or traits, that are influenced by myriad variants.

Notably, 51 of the 57 genetic variants influence and regulate human lung fibroblast cells, a type of cell producing scar tissue in the lungs, says study author Xiaofeng Zhu, PhD, professor at the Case Western Reserve University School of Medicine. This is important, he said, because Mendelian Randomization analysis, a statistical approach for testing causal relationship between an exposure and an outcome, shows a potential causal relationship between how the DLC1 gene modifies fibroblasts cells and the changes in oxygen levels during sleep.

This relationship, Kiley added, suggests that a shared molecular pathway, or a common mechanism, may be influencing a persons susceptibility to the lack of oxygen caused by sleep disordered breathing and other lung illnesses such as emphysema.

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Disc Medicine Completes $50 Million Series A Financing led by Novo Holdings A/S to Advance New Therapies Addressing Ineffective Red Blood Cell…

Posted: at 4:45 am

CAMBRIDGE, Mass., Oct. 29, 2019 /PRNewswire/ -- Disc Medicine, a hematology company applying new insights in hepcidin biology to develop therapies that restore red blood cell production in hematologic diseases, today announced the completion of a $50 million Series A financing. The company's novel approach focuses on targeting hepcidin, a key regulator of iron metabolism, as a treatment for inherited and acquired anemias. The Series A financing was led by Novo Holdings A/S along with Access Biotechnology and founding investor Atlas Venture. Atlas seeded the company in 2017. Donald Nicholson, former CEO of Nimbus Therapeutics, is joining as the company's executive chairman.

"We have accumulated a wealth of experience and new insights into hepcidin biology and its role in hematologic diseases," said Brian MacDonald, founder and interim CEO of Disc Medicine. "We are harnessing these insights to develop first-in-class therapies targeting the hepcidin pathway to address a wide range of anemias."

Hepcidin is a small peptide hormone produced in the liver which acts as a key regulator of systemic iron metabolism. Dysregulation of hepcidin leads to either iron overload or iron deficiency, and chronic hepcidin dysregulation is observed in conditions associated with ineffective erythropoiesis, a state of impaired red blood cell production. Ineffective erythropoiesis disorders such as myelodysplastic syndromes, thalassemia, and anemia of chronic disease are often characterized by severe anemia that can have a significant impact on lifespan and quality of life.

Disc Medicine is advancing two therapeutic programs focused on regulating hepcidin expression - a novel, orally administered matriptase-2 inhibitor which increases hepcidin expression to treat iron loading anemias, and a hemojuvelin antagonist monoclonal antibody to reduce hepcidin expression and address anemia in a range of chronic inflammatory and hematologic diseases.

"Disc Medicine is poised to transform the treatment of these hematologic diseases with its novel approach to targeting hepcidin biology," said Kevin Bitterman, founding investor, Atlas Venture. "Over the past fifty years, the treatment of anemia has relied largely on blood transfusions which can be burdensome and even impair patient outcomes. Further, options are limited for patients who do not receive transfusions. With the launch of Disc Medicine, we seek to change the treatment paradigm with a new way to address the ineffective erythropoiesis that is associated with these diseases."

"We are pleased to support the Disc Medicine team in developing novel drugs to modulate the hepcidin axis to address multiple hematological diseases," said Nilesh Kumar, Partner, Novo Ventures. "The linearity of the science and the progress made by the team on targets backed by human genetics is an exciting development in this space."

Disc Medicine was founded in 2017 by Atlas Venture and Brian MacDonald. The Board of Directors is chaired by Donald Nicholson and includes Kevin Bitterman, Nilesh Kumar and Liam Ratcliffe. The Disc team is supported by world class medical advisors including Stefano Rivella, PhD, Professor of Pediatrics at The Children's Hospital of Philadelphia, Mark Fleming, MD, DPhil, Pathologist-in-Chief at Boston Children's Hospital and S. Burt Wolbach Professor of Pathology at Harvard Medical School, Srdan Verstovsek, MD, PhD, professor, Department of Leukemia at The University of Texas MD Anderson Cancer Center and Uma Sinha, PhD, chief scientific officer at BridgeBio Pharmaceuticals.

About Disc Medicine Disc Medicine is a hematology company harnessing new insights in hepcidin biology to address ineffective red blood cell production (erythropoiesis) in hematologic diseases. Focused on the hepcidin pathway, the master regulator of iron metabolism, Disc is advancing first-in-class therapies to transform the treatment of hematologic diseases. For more information, visit

About Atlas Venture Atlas Venture is a leading biotech venture capital firm. With the goal of doing well by doing good, the company has been building breakthrough biotech startups since 1993. Atlas works side by side with exceptional scientists and entrepreneurs to translate high impact science into medicines for patients. Our seed-led venture creation strategy rigorously selects and focuses investment on the most compelling opportunities to build scalable businesses and realize value. For more information, please visit

About Novo Holdings A/S Novo Holdings A/S is a private limited liability company wholly owned by the Novo Nordisk Foundation. It is the holding and investment company of the Novo Group, comprising Novo Nordisk A/S and Novozymes A/S, and is responsible for managing the Novo Nordisk Foundation's assets.

Novo Holdings is recognized as a leading international life science investor, with a focus on creating long-term value. As a life science investor, Novo Holdings provides seed and venture capital to development-stage companies and takes significant ownership positions in growth and well-established companies. Novo Holdings also manages a broad portfolio of diversified financial assets. For more information, visit

About Access Biotechnology Access Biotechnology is the life science investment arm of Access Industries. The investment strategy is broad, long term and aims to enable truly innovative therapeutic platforms and products across three key stages: company foundation, technology translation and company expansion. Our approach is based on rigorous diligence and we provide value-added support from our extensive experience and networks.

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Gene discovery solves 51-year-old mystery cause of inherited pancreatitis – Newswise

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Newswise What began as a 51-year-old mystery comes down to a single gene, as researchers from the University of Chicago and University of California, San Francisco discovered the cause of a new inherited form of pancreatitis.

Pancreatitis is a disease that causes the pancreas to become inflamed, triggering severe abdominal pain. Long-term pancreatitis can cause the organ to stop functioning altogether, leading to diabetes, and in many cases, pancreatic cancer. It is most often caused by alcohol abuse, but several forms are caused by genetic mutations.

In 2012,Mark Anderson, who earned his MD and PhD at UChicago and is now an endocrinologist at UCSF, saw a patient in his clinic with diabetes and pancreatitis. She explained that it ran in her family in fact, they had been written up in a study for theAnnals of Internal Medicinein 1968. Doctors at UCSF had documented 71 members of the family, then living in a farming community around Northern California. Of the 18 people they examined, six were officially diagnosed with pancreatitis and another five were suspected of having the disease. The particular form of pancreatitis affecting this family was especially severe and struck at a young age; children suffering from it were said to come inside from the fields and collapse onto the floor in pain.

At the time, the researchers suspected that it was an autosomal dominant form of the disease, meaning that it could be inherited through one mutated gene. There was no way of proving this back then before the advent of genetic sequencing so the case was closed.

After Anderson and his colleagues realized the implications of their current patient's connections to that story, they ordered genetic tests for her and several of her family members. Working together withScott Oakes, MD, a former UCSF pathologist and cell biologist now on the faculty at UChicago, they screened the family for the five known genetic mutations that can cause inherited pancreatitis. None of them matched, but a new mutation in a gene that produces a digestive enzyme called elastase 3B emerged as a possible culprit.

In the lab, the researchers expressed both the normal and mutated forms of the elastase 3B gene, and used CRISPR gene-editing technology to engineer mice that had the mutation. They saw that the mutated form of the gene causes the pancreas to secrete too much of the enzyme, which damages the pancreas as it begins to digest itself. After 51 years, they had an answer for what was causing the unfortunate familys misery.

The tools to do genetic sleuthing now are just unbelievable, Anderson said. What an exciting time to be a clinician and a scientist. You really can take things from the bedside to the bench and back this quickly.

'Medical archaeology'

The discovery was published in September in theJournal of Clinical Investigation. Oakes, who calls it a work of medical archaeology, says its also an opportunity to find new treatments for inherited forms of pancreatitis, a notoriously difficult disease to treat. Short of removing the pancreas which has the equally problematic side effect of making the patient diabetic or performing a pancreas or islet cell transplant, doctors can mostly just help patients manage their pain and symptoms.

There are a lot of patients who still have what looks like inherited pancreatitis that don't have a genetic diagnosis maybe some of these have mutations in elastase 3B, Oakes said. So, it has immediate implications not only for this family but potentially other families that have pancreatitis.

Understanding how this mutation works could lead to solutions for more patients as well, Oakes said. New drugs could target the elastase 3B gene with an antibody or molecule that counteracts the extra enzymes.

The presentation is so dramatic its possible that elastase 3B might be a good place to intervene in regular, garden-variety pancreatitis, he said. If you could tamp it down, maybe you could help control the disease in other patients.

Oakes echoed Andersons sentiment about the advantage of working on such a problem at institutions like UChicago and UCSF, where physicians-scientists can see patients one day and work in a genetics lab the next.

This reinforces the advantage of seeing patients and running a lab: You can let human genetics drive our understanding of this disease, he said. There are a lot of families like this in the medical literature where we still don't know the genetics. I think it is an exciting time now to figure out how to do that.

The new study, Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma, was supported by the National Institutes of Health, the Helmsley Charitable Trust, the Bern Schwartz Family Foundation and the Larry L. Hillblom Foundation. Additional authors include Paul C. Moore, Jessica T. Cortez, Chester E. Chamberlain, Diana Alba, Amy C. Berger, Zoe Quandt, Alice Chan, Mickie H. Cheng, Jhoanne L. Bautista, Justin Peng and Michael S. German from UCSF.


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Illumina Reserved in Comments on PacBio Deal, Forthcoming on Qiagen Deal and New Products – GenomeWeb

Posted: at 4:45 am

NEW YORK Illumina officials were muted in their response to a threat from UK regulators that could potentially kill the firm's planned $1.2 billion acquisition of Pacific Biosciences. But that was just one of the storylines running through and around the firm's conference call following the release of its third quarter financial results.

"While we're still in the process of reviewing the documents, we continue to believe this acquisition is pro-competitive and in the best interests of customers and the genomics industry," Illumina CEO Francis deSouza said.

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Illumina Reserved in Comments on PacBio Deal, Forthcoming on Qiagen Deal and New Products - GenomeWeb

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Explained: Indias Own Human Genome Project, How It Will Aid Our Fight Against Cancer And Genetic Diseases – Swarajya

Posted: at 4:45 am

The Basics

A genome refers to an organism's complete set of DNA, including all of its genes. Therefore, WGS entails determining the complete DNA sequence at a point in time. It includes the organism's chromosomal DNA as well as DNA contained in the mitochondria.

While the field of genetics refers to the study of individual genes and their roles, genomics entails study of all of an organism's genes collectively- how they affect each other and the organism.

Simply put, the process of gene expression happens through synthesis of proteins. These proteins trigger the intended change in the cells and are synthesised after the corresponding DNA is transcripted to RNA in the cells nucleus.

Such DNAs which can be transcribed into messenger RNAs are called protein-coding DNA. Protein-coding DNA sequences are the most widely studied and best understood component of the human genome.

However, protein-coding DNA consist of only a small fraction of the genome - less than two per cent - the remaining 98 per cent of human genome consists of noncoding DNA.

Noncoding DNA that dont find a function in gene expression have biological functions- like regulating structural features of the chromosomes and DNA replication.

IndiGen is basically the India-specific version of the Human Genome Project (HGP), an an international scientific research project. The latter was primarily funded by the US government and was declared complete in 2003.

The HGP was able to map close to 92.1 per cent of the human genome, leaving out difficult portions of the chromosomes like centromeres and telomeres, with high accuracy.

Why genome sequencing is important

With the exception of identical twins, all humans show significant variation in genomic DNA sequences. People of same ethnicity/race may have more commonalities. Similarly. Based on genomic commonalities, certain populations of the world may be more susceptible to certain diseases, and so on.

Director General, CSIR and Secretary, Department for Scientific & Industrial Research, Dr Shekhar C Mande said that it is important to ensure that India, with its unparalleled human diversity, is adequately represented in terms of genomic data and develops indigenous capacity to generate, maintain, analyze, utilize and communicate large-scale genome data, in a scalable manner.

The broad-based genome data and knowhow for the its analysis will help in development of technologies for clinical and biomedical applications in India.

In the future, the technology is expected to deliver cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

On the occasion, the health minister also unveiled the IndiGenome card and accompanying IndiGen mobile application that enables participants and clinicians to access clinically actionable information in their genomes. This will pave the path for personalised treatments and precision medicine.

Genome sequencing also helps in evolutionary and anthropological studies. Genome sequencing has also helped us in developing better varieties of food crops.

However, the field also raises serious ethical, social concerns. The genome of a person can offer a host of information that is unknown to himself, to those who can analyse it. During the HGP, concerns were raised that the data might be used by big companies for hiring/firing employees, insurance companies to deny insurance to certain people etc. Therefore, privacy remains a serious concern.

The genomics has also revived the old debates over racial differences. Any genetic grounding of evolutionary differences between different races can have social repercussions with certain groups using the information to justify racial discrimination or race-purity.

Genomics also raise the ethical issues regarding human interference in natural processes. As the technology develops further, scientists would be able to design humans with assorted set of good genes.

Will this lead to a new form of Eugenics where parents discard a genetically inferior embryo early on? Will the rich be able to buy 'intelligence as they can buy beauty through lip injections, plastic surgeries, implants etc? What would the concepts like hard work, merit, equality etc mean in such a world?

These are some of the hard questions we will have to figure out as we move along.

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Explained: Indias Own Human Genome Project, How It Will Aid Our Fight Against Cancer And Genetic Diseases - Swarajya

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