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Human Genetics - David Geffen School of Medicine at UCLA

SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Childrens Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionanos optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%).

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionanos optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionanos optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.

As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.

Bionanos optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.

The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the contribution of Bionanos technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionanos technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano's Optical Genome Mapping Technology Can Diagnose...

SAN FRANCISCO, Nov. 5, 2020 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced financial and operating results for the third quarter ended September 30, 2020.

"Strategic, commercial and operating results in the third quarter continued to demonstrate the value and leverage available from our global, diversified business. These strong results are a testament to our unique combination of comprehensive menu, durable customer relationships and ability to execute," said Sean George, Ph.D., co-founder and chief executive officer of Invitae. "We further advanced clinical understanding of the importance of genetic information with the publication of several studies, including a collaboration supporting universal testing for cancer patients. Looking ahead, we believe recent acquisitions and integrations, coupled with our internal development efforts, will provide access to new and developing markets and improve ease-of-use for customers, enhancing our ability to meet the needs of patients and clinicians as the use of genetics in healthcare continues to accelerate."

Third Quarter 2020 Financial Results

Total operating expense, excluding cost of revenue, for the third quarter of 2020 was $102.9 million. Non-GAAP operating expense was $102.6 million in the third quarter of 2020.

Net loss for the third quarter of 2020 was $102.9 million, or $0.78 net loss per share, compared to a net loss of $78.7 million in the third quarter of 2019, or $0.82 net loss per share. Non-GAAP net loss was $81.7 million, or $0.62 non-GAAP net loss per share, in the third quarter of 2020.

At September 30, 2020, cash, cash equivalents, restricted cash and marketable securities totaled $368.0 million. Net decrease in cash, cash equivalents and restricted cash for the quarter was $61.4 million. Cash burn was $64.9 million for the quarter.

Corporate and Scientific Highlights

Webcast and Conference Call DetailsManagement will host a conference call and webcast today at 4:30 p.m. Eastern / 1:30 p.m. Pacific to discuss financial results and recent developments. To register for the conference call and webcast, please use one of the methods below. Upon registering, each participant will be provided with call details and a registrant ID.

Online registration: http://www.directeventreg.com/registration/event/7916067

Phone registration: (888) 869-1189 or (706) 643-5902

The live webcast of the call and slide deck may be accessedhere or by visiting the investors section of the company's website atir.invitae.com. A replay of the webcast and conference call will be available shortly after the conclusion of the call and will be archived on the company's website.

About Invitae

Invitae Corporation(NYSE: NVTA)is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's belief regarding the value and leverage of its global, diversified business; the company's belief regarding the impact of its unique combination of comprehensive menu, durable customer relationships and ability to execute; the importance of the company's recent studies and collaborations; the company's belief regarding the momentum of its business and ability to continue to deliver on its mission to bring genetic information into mainstream medicine; the impact of the company's acquisitions, including its completed merger with ArcherDX, as well as its internal development efforts, partnerships and product offerings; and the company's beliefs regarding its ability to access new and developing markets, improve ease-of-use for customers, and meet the needs of patients and clinicians. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the impact of COVID-19 on the company, and the effectiveness of the efforts it has taken or may take in the future in response thereto; the company's ability to continue to grow its business, including internationally; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's failure to successfully integrate or fully realize the anticipated benefits of acquired businesses; risks associated with litigation; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Non-GAAP Financial MeasuresTo supplement Invitae's consolidated financial statements prepared in accordance with generally accepted accounting principles in the United States (GAAP), the company is providing several non-GAAP measures, including non-GAAP gross profit, non-GAAP cost of revenue, non-GAAP operating expense, including non-GAAP research and development, non-GAAP selling and marketing, non-GAAP general and administrative and non-GAAP other income (expense), net, as well as non-GAAP net loss and non-GAAP net loss per share and non-GAAP cash burn. These non-GAAP financial measures are not based on any standardized methodology prescribed by GAAP and are not necessarily comparable to similarly-titled measures presented by other companies. Management believes these non-GAAP financial measures are useful to investors in evaluating the company's ongoing operating results and trends.

Management is excluding from some or all of its non-GAAP operating results (1) amortization of acquired intangible assets, (2) acquisition-related stock-based compensation, (3) post-combination expense related to the acceleration of equity grants or bonus payments in connection with the company's business combinations, (4) adjustments to the fair value of acquisition-related liabilities and (5) acquisition-related income tax benefits. These non-GAAP financial measures are limited in value because they exclude certain items that may have a material impact on the reported financial results. Management accounts for this limitation by analyzing results on a GAAP basis as well as a non-GAAP basis and also by providing GAAP measures in the company's public disclosures.

Cash burn excludes (1) changes in marketable securities, (2) cash received from equity financings and (3) cash received from exercises of warrants. Management believes cash burn is a liquidity measure that provides useful information to management and investors about the amount of cash consumed by the operations of the business. A limitation of using this non-GAAP measure is that cash burn does not represent the total change in cash, cash equivalents, and restricted cash for the period because it excludes cash provided by or used for other operating, investing or financing activities. Management accounts for this limitation by providing information about the company's operating, investing and financing activities in the statements of cash flows in the consolidated financial statements in the company's most recent Quarterly Report on Form 10-Q and Annual Report on Form 10-K and by presenting net cash provided by (used in) operating, investing and financing activities as well as the net increase or decrease in cash, cash equivalents and restricted cash in its reconciliation of cash burn.

In addition, other companies, including companies in the same industry, may not use the same non-GAAP measures or may calculate these metrics in a different manner than management or may use other financial measures to evaluate their performance, all of which could reduce the usefulness of these non-GAAP measures as comparative measures. Because of these limitations, the company's non-GAAP financial measures should not be considered in isolation from, or as a substitute for, financial information prepared in accordance with GAAP. Investors are encouraged to review the non-GAAP reconciliations provided in the tables below.

INVITAE CORPORATION

Consolidated Balance Sheets

(in thousands)

(unaudited)

September 30,2020

December 31,2019

Assets

Current assets:

Cash and cash equivalents

$

106,436

$

151,389

Marketable securities

254,848

240,436

Accounts receivable

27,328

32,541

Prepaid expenses and other current assets

26,492

18,032

Total current assets

415,104

442,398

Property and equipment, net

46,130

37,747

Operating lease assets

39,007

36,640

Restricted cash

6,685

6,183

Intangible assets, net

187,060

125,175

Goodwill

211,225

126,777

Other assets

7,961

6,681

Total assets

$

913,172

$

781,601

Liabilities and stockholders' equity

Current liabilities:

Accounts payable

$

15,589

$

10,321

Accrued liabilities

77,986

64,814

Operating lease obligations

6,628

4,870

Finance lease obligations

1,237

1,855

Total current liabilities

101,440

81,860

Operating lease obligations, net of current portion

42,363

42,191

Finance lease obligations, net of current portion

1,834

1,155

Convertible senior notes, net

279,870

268,755

Deferred tax liability

10,250

Other long-term liabilities

60,864

8,000

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Invitae Reports $68.7 Million in Revenue Driven by 170,000 Samples Accessioned in the Third Quarter of 2020 - PRNewswire

News Release

Thursday, November 5, 2020

National Institutes of Health researchers have discovered a gene in mice that controls the craving for fatty and sugary foods and the desire to exercise. The gene, Prkar2a, is highly expressed in the habenula, a tiny brain region involved in responses to pain, stress, anxiety, sleep and reward. The findings could inform future research to prevent obesity and its accompanying risks for cardiovascular disease and diabetes. The study was conducted by Edra London, Ph.D., a staff scientist in the section on endocrinology and genetics at NIHs Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and colleagues. It appears in JCI Insight.

Prkar2a contains the information needed to make two subunits molecular components of the enzyme protein kinase A. Enzymes speed up chemical reactions, either helping to combine smaller molecules into larger molecules, or to break down larger molecules into smaller ones. Protein kinase A is the central enzyme that speeds reactions inside cells in many species. In a previous study, the NICHD team found that despite being fed a high fat diet, mice lacking functioning copies of Prkar2a were less likely to become obese than wild type mice with normally functioning Prkar2a.

The researchers determined that Prkar2a-negative mice ate less high-fat food than their counterparts, not only when given unlimited access to the food, but also after a fast. Similarly, the Prkar2a negative mice also drank less of a sugar solution than the wild type mice. The Prkar2a-negative mice were also more inclined to exercise, running 2-3 times longer than wild type mice on a treadmill. Female Prkar2a-negative mice were less inclined to consume high fat foods than Prkar2-negative males, while Prkar2-negative males showed less preference for the sugar solution than Prkar2-negative females.

Edra London, Ph.D., staff scientist in the NICHD Section on Endocrinology and Genetics, is available for comment.

London, E et al. Loss of habenular Prkar2a reduces hedonic eating and increases exercise motivation. JCI Insight. 2020.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD leads research and training to understand human development, improve reproductive health, enhance the lives of children and adolescents, and optimize abilities for all. For more information, visit https://www.nichd.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH researchers identify gene in mice that controls food cravings, desire to exercise - National Institutes of Health

The neocortex enables us to speak, dream and think. In search of the causes underlying neocortex expansion, researchers at the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, together with colleagues at the University Hospital Carl Gustav Carus Dresden, previously identified a number of molecular players. These players typically act cell-intrinsically in the so-called basal progenitors, the stem cells in the developing neocortex with a pivotal role in its expansion.

The researchers now report an additional, novel role of the happiness neurotransmitterserotoninwhich is known to function in thebrainto mediate satisfaction, self-confidence and optimismto act cell-extrinsically as a growth factor for basal progenitors in the developing human, but not mouse, neocortex. Due to this new function, placenta-derived serotonin likely contributed to the evolutionary expansion of the human neocortex.

Abnormal signaling of serotonin and a disturbed expression or mutation of its receptor HTR2A have been observed in various neurodevelopmental and psychiatric disorders, such as Down syndrome, attention deficit hyperactivity disorder and autism. Our findings may help explain how malfunctions of serotonin and its receptor during fetal brain development can lead to congenital disorders and may suggest novel approaches for therapeutic avenues, [said study supervisor Wieland Huttner.]

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Experiencing happiness likely contributed to the dramatic growth and complexity of the human brain - Genetic Literacy Project