Category Archives: Genetic medicine

The collaboration will enable production of gene therapies for LEXEOs upcoming clinical trials, future IND-enabling studies and commercialization, according to the parties.

FBD is to provide good manufacturing practice (GMP) production, analytical development, process optimization, and chemistry, manufacturing and controls (CMC) for LEXEOs clinical-stage programs.

Gerry Farrell, COO, FBD, Texas, called the alliance a "synergistic partnership"thatcombines its technical expertise in gene therapy manufacturing with the New York city based company's "cutting-edge" pipeline.

R Nolan Townsend, CEO of LEXEO, outlined how the partnership would help it advance multiple late-stage clinical programs simultaneously.

The partners will initially focus on the supply of LX1004, an adeno-associated virus (AAV)-mediated gene therapy for potential treatment of CLN2 Batten disease, in an upcoming pivotal study.

LEXEO will utilize single-use suspension bioreactor technology, creating a common manufacturing platform and technology base to support vector demand across its pipeline.

The company's portfolio targets rare and non-rare disease indications; it also has an APOE2+ Alzheimers Disease program.

Founded on the basis of a gene therapy research legacy at Weill Cornell Medicines Department of Genetic Medicine with the goal of developing disease-modifying treatments for genetic cardiovascular conditions and genetic conditions of the central nervous system (CNS), itnow has more than 15 AAV-mediated gene therapy programs in research and development.

Parent company, Fujifilm Corporation,has spent US$5.5bm since 2011 to support the CDMO business ofFujifilmDiosynth Biotechnologies.

With an US$850m investment announced in June this year, the CDMO is expanding its manufacturing capabilities to support an increased capacity for biologics and gene therapies. The cash infusion is aimed at growing FBDs contract manufacturing capabilities in the US and the UK. Those expansion projects will be fully realized in 2023.

In January 2021, the company invested US$40m to establish its third viral vector contract development operation in Boston. The third site, it said, would enable it to respond to customers needs for the viral vector manufacturing process from the early clinical stage through commercialization.

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Fujifilm Diosynth in tie-up with US AAV gene therapy developer - BioPharma-Reporter.com

- Oral and poster presentations to highlight preclinical GeneRide platform data in new indications demonstrating strong evidence of selective advantage of the corrected hepatocytes

Published: Oct. 12, 2021 at 3:05 PM CDT

LEXINGTON, Mass., Oct. 12, 2021 /PRNewswire/ --LogicBio Therapeutics, Inc.(Nasdaq:LOGC), a clinical-stage genetic medicine company pioneering gene editing and gene delivery platforms to address rare and serious diseases from infancy through adulthood, today announced that it was selected to present new data from the company's GeneRide platform in a plenary oral presentation and three poster presentations at the upcoming European Society of Gene and Cell Therapy (ESGCT) Virtual Congress 2021, to be held from October 19-22, 2021.

The oral presentation will include new preclinical GeneRide data showing delivery of corrective genes in three different indications with intrinsic liver damage demonstrating strong evidence of selective advantage of the corrected hepatocytes. Poster presentations will highlight GeneRide expression data in preclinical models of tyrosinemia type 1, as well as the company's optimized adeno-associated virus (AAV) process development.

Oral Presentation Details:

Title: Nuclease-free, promoterless recombinant AAV-mediated genome editing restores function of hepatocytes leading to selective advantage and repopulation in mouse models with liver disease (OR40)Presenter:Shengwen Zhang, Director, Pharmacology, LogicBio TherapeuticsSession: 5b: Gene Editing IIISession date/time:October 21, 2021,17:00-17:15 p.m. CEST (11:00-11:15 a.m. ET)

Poster Presentations Details:

Title: A novel endonuclease-free genome editing technology to edit hepatocytes in vivo led to a full molecular liver transplant and cured mice in preclinical models of Tyrosinemia Type 1 (P253)Q. Qiang Xiong, Director, Head of Preclinical Pharmacology, LogicBio Therapeutics

Title: Development of an Anion Exchange Chromatography Method to Assess Percent Full Capsids for Chimeric Capsid AAV-LK03 (P268)William Lee, Research Associate, LogicBio Therapeutics

Title: Modified plasmid and transfection optimization in suspension HEK293 cells lead to scalable high-yield process for AAV manufacturing (P278)Hans Reuter, Upstream Engineer, Process Development, LogicBio Therapeutics

Additional information on the meeting can be found on the ESGCT website.

The presentation and posters will be available shortly after being presented on the LogicBio Therapeutics website at Presentations | LogicBio Therapeutics, Inc.

AboutLogicBio Therapeutics

LogicBio Therapeuticsis a clinical-stage genetic medicine company pioneering gene editing and gene delivery platforms to address rare and serious diseases from infancy through adulthood. The Company's gene editing platform, GeneRide, is a new approach to precise gene insertion harnessing a cell's natural DNA repair process potentially leading to durable therapeutic protein expression levels. The Company's gene delivery platform, sAAVy, is an adeno-associated virus (AAV) capsid engineering platform designed to optimize gene delivery for treatments in a broad range of indications and tissues. The Company is based inLexington, MA.For more information, visitwww.logicbio.com, which does not form a part of this release.

Investor Contacts: Laurence WattsGilmartin Group(619) 916-7620laurence@gilmartinir.com

Stephen JasperGilmartin Group(858) 525-2047stephen@gilmartinir.com

Media Contacts:Adam DaleyBerry & Company Public RelationsW:212-253-8881C: 614-580-2048adaley@berrypr.com

Jenna UrbanBerry & Company Public RelationsW: 212-253-8881C: 203-218-9180jurban@berrypr.com

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SOURCE LogicBio Therapeutics, Inc.

The above press release was provided courtesy of PRNewswire. The views, opinions and statements in the press release are not endorsed by Gray Media Group nor do they necessarily state or reflect those of Gray Media Group, Inc.

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LogicBio Therapeutics to Present New GeneRide Data at the European Society of Gene and Cell Therapy Virtual Congress 2021 - WMTV - NBC15

Gene therapy is one of the novel mechanisms of treatment that is attracting several large and small pharma companies. The gene therapies treat a disease by altering or turning off problematic genes and adding genes that help to fight or treat a disease. Scientists have been investigating ways to modify genes or replace faulty genes for the last few decades with a few gene therapies already in the market. Gene therapy is set to become one of the most vital spaces with high prospects in the biotech sector.

These therapies provide the flexibility to develop one-time treatment options for genetic or inherited diseases with limited or no approved therapies available. Moreover, gene-editing can directly affect cells the basic building blocks of living things and may help in developing highly effective therapies.

There are already a few FDA-approved gene therapies targeting different difficult indications. In a historic move, the FDA approved the first gene therapy, Novartis Kymriah, for treating acute lymphoblastic leukemia in 2017. This was followed by the FDA approval of two more gene therapies Gileads Yescarta and Roches Luxturna for oncology and eye disorder indications, respectively, in the same year. The FDA approved two new gene therapies, Bristol-Myers Breyanzi and Abecma for treating different cancer indications, earlier in 2021. The majority of approved gene therapies have shown strong sales growth since their approval.

Given the potential of gene therapies to treat complex diseases, the companies developing candidates using gene therapy that are a mix of large and small firms, are in focus. A successful medicine developed by any of these companies can generate annual revenues of $1 billion or more. Here we discuss four biotech stocks with promising gene therapy candidates in their pipeline.

CRISPR Therapeutics CRSP

The company is developing its lead pipeline candidate, CTX001, in collaboration with Vertex Pharmaceuticals in mid-stage studies as a potential treatment for transfusion-dependent beta thalassemia and sickle cell disease. The gene-editing therapy candidate previously demonstrated a consistent and sustained response to treatment in the given patient population in an ongoing phase I/II study.

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CRISPR Therapeutics is actively seeking collaborations and leveraging its CRISPR/Cas9 gene-editing platform to make therapies for hemoglobinopathies, cancer, diabetes and other diseases.

Editas Medicine EDIT

The companys lead pipeline candidate is EDIT-101, which employs CRISPR gene editing to treat LCA10 a rare genetic illness that causes blindness. Editas is currently enrolling in the first pediatric cohort of the phase I/II BRILLIANCE study, which is evaluating EDIT-101 for LCA10. Editas is also pursuing the development of CRISPR candidates for eye diseases other than LCA10 including Usher Syndrome type 2A and recurrent ocular Herpes Simplex Virus type 1.

It is also designing novel medicines for non-malignant hematologic diseases, such as SCD and beta-thalassemia.

Sarepta Therapeutics SRPT

Sareptas lead gene therapy candidate is SRP-9001, an AAV-mediated micro-dystrophin gene therapy. The company initiated a pivotal clinical study earlier this year to evaluate it as a one-time treatment for Duchenne muscular dystrophy patients. The promising candidate has also led Roche to sign a collaboration deal with Sarepta. The company plans to seek FDAs approval to start a pivotal study on its other gene therapy candidate, SRP-9003, in 2021 to evaluate it in patients with Limb-girdle muscular dystrophy (LGMD) type 2E. The company has several other pre-clinical and clinical-stage gene therapy candidates targeting additional indications like Rett Syndrome, cardiomyopathy, Emery-Dreifuss muscular dystrophy type 1, and multiple sclerosis.

Beam Therapeutics BEAM

The company has two pre-clinical gene editing candidates, BEAM-101 and BEAM-102, in its pipeline that are being developed as potential treatments for SCD. The company plans to file an investigational new drug application to the FDA seeking approval to start a clinical study on BEAM-101 in the second half of 2021.

Want the latest recommendations from Zacks Investment Research? Today, you can download 7 Best Stocks for the Next 30 Days. Click to get this free reportBeam Therapeutics Inc. (BEAM) : Free Stock Analysis ReportSarepta Therapeutics, Inc. (SRPT) : Free Stock Analysis ReportEditas Medicine, Inc. (EDIT) : Free Stock Analysis ReportCRISPR Therapeutics AG (CRSP) : Free Stock Analysis ReportTo read this article on Zacks.com click here.Zacks Investment Research

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4 Biotechs to Watch Amid Rising Prominence of Gene Therapies - Yahoo Finance

-- New data in patients with POMC or LEPR deficiency obesity show setmelanotide led to clinically meaningful improvements in health related quality of life measures and hunger -- -- Updated results from Uncovering Rare Obesity testing program suggest up to 64.5 percent of individuals with early-onset, severe obesity may carry variants linked to rare genetic diseases of obesity -- -- Additional posters include encore presentations of data from Phase 3 trial evaluating setmelanotide in BBS and Phase 2 trial in HET obesity, as well as Phase 1b trial evaluating once-weekly setmelanotide --

BOSTON, Oct. 14, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, today presented the first-ever data on the health related quality of life (HRQOL) and experience of patients with obesity due to POMC or LEPR deficiency and updated results from the Uncovering Rare Obesity (URO) genetic testing program at the Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience (DX) Oct. 14-23.

The Company and its collaborators delivered four poster presentations, including:

New HRQOL data from post-hoc analyses of Phase 3 trials evaluating setmelanotide in patients with POMC or LEPR deficiency obesity that showed setmelanotide treatment led to sustained, clinically meaningful HRQOL improvements in a majority of patients;

New results from a study based on in-depth patient interviews conducted in patients with POMC and LEPR deficiency obesity enrolled in Rhythms pivotal Phase 3 trials, which highlighted that the reduced hunger and improved satiety resulting from setmelanotide treatment substantially and meaningfully changed patients lives; and

Two presentations detailing updated results from Rhythms URO genetic testing of approximately 8,500 people in the United States with early-onset, severe obesity project that:

64.5% of individuals who had genetic sequencing performed may carry variants associated with rare genetic diseases of obesity, including 54.6% with variants in the melanocortin-4 receptor (MC4R) pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or for treatment with IMCIVREE; and

1.96% of individuals who had genetic sequencing performed may carry biallelic variants in one of 22 Bardet-Biedl Syndrome (BBS)-associated genes or the ALMS1 gene, of which up to 0.34% carried variants considered pathogenic or likely pathogenic.

These new data contribute to the growing body of evidence that supports setmelanotides potential to deliver clinically meaningful weight loss and clinically meaningful improvements in patient reported hyperphagia, as well as HRQOL, reinforcing the value of setmelanotides potential for the treatment of rare genetic diseases of obesity of the MC4R pathway, said Linda Shapiro, M.D., Ph.D., Chief Medical Officer of Rhythm. As we prepare to initiate our next wave of clinical trials, we are encouraged by these new results from the URO genetic testing program, which suggest the potential prevalence of genetic variants among people living with early-onset, severe obesity. These results reinforce the importance of genetic testing for clinical decision making in individuals with early-onset, severe obesity and hyperphagia and support our plans to initiate the Phase 3 EMANATE and Phase 2 DAYBREAK trials later this year, which will expand our clinical development of setmelanotide into patients with variants in any of 36 genes that may impair the MC4R pathway.

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New HRQOL Data and Patient-reported Experience of Hunger from Phase 3 Trials in POMC and LEPR Deficiency ObesitiesInvestigators presented two posters with data generated from post-hoc analyses of the Companys Phase 3 trials in POMC and LEPR deficiency obesities.

In a presentation entitled, Quality of Life in POMC or LEPR Deficiency: Setmelanotide Phase 3 Trials, Peter Khnen, M.D., Charit - Universittsmedizin Berlin, Corporate Member of Freie Universitt Berlin und Humboldt-Universitt zu Berlin, Institute for Experimental Pediatric Endocrinology presented data on the HRQOL burden improvements before and after treatment with setmelanotide.1 Highlights include:

Setmelanotide resulted in clinically meaningful improvement in HRQOL in eight of 13 (73%) of patients after 52 weeks of treatment, with improvements in HRQOL that were 2 to 3 times larger than the relevant meaningful threshold; and

Meaningful HRQOL improvements were observed as early as Week 5 on therapy, and these improvements were maintained throughout the study as they mirrored clinically meaningful hunger reductions and weight loss in these patients.

Martin Wabitsch, M.D. Division of Pediatric Endocrinology and Diabetes, Center for Rare Endocrine Diseases, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany, presented qualitative data from a series of patient interviews in a poster entitled, Patient Experience of Hunger in POMC or LEPR Deficiency. Patients reported that hyperphagia and the constant inability to feel satiety negatively affects their HRQOL, while reduced hunger and improved satiety achieved on setmelanotide therapy substantially and meaningfully changed their lives, profoundly improving their ability to function at school or work. Additionally, these patients reported that discontinuing treatment with setmelanotide would be devastating.

The results of these studies underscore the tremendous burden of POMC and LEPR deficiency obesity, better characterizing the experience of people living with these conditions and highlighting the significant impact of severe obesity and insatiable hunger on their daily lives, said Dr. Khnen. Importantly, these data suggest setmelanotide can deliver clinically meaningful HRQOL benefits, reducing the significant burden of disease by providing patients with improvements in their feelings of insatiable hunger, in addition to substantial weight loss. These results further reinforce the value of setmelanotide as the first U.S., EU and UK-approved precision medicine for chronic weight management in POMC and LEPR deficiency obesities.

Updated Data from the URO Testing ProgramIda Moeller, ScD, ScM, MMSc, Director of Biomedical Informatics at Rhythm, presented, Variants in Obesity-related Genes in a Population with Early-onset Obesity. Rhythms URO testing program is designed to expand access to genetic testing for patients with suspected rare genetic diseases of obesity in the U.S. As of July 12, 2021, Rhythm had collected genetic sequences from approximately 8,500 individuals with early-onset, severe obesity, including 788 individuals who had genetic sequencing performed on the Companys updated genetic panel with 79 genes and the full chromosomal region 16p11.2.

Based on an integrated yield weighted by the number of individuals sequenced for each gene, utilizing the data from the two panels (the original panel and the updated expanded panel), Rhythm projects that 64.5% of individuals sequenced may carry actionable variants linked to rare genetic diseases of obesity.2 Rhythm also estimates that 54.6% of individuals sequenced carry variants in the MC4R pathway that may qualify them for enrollment in Rhythms EMANATE or DAYBREAK trials or commercial treatment with IMCIVREE.

Additionally, Dr. Robert Haws, M.D., Marshfield Clinical Research Institute, presented, Frequency of BBS and ALMS1 Variants in a Cohort With Early-onset Obesity. Based on updated URO results, the Company projects that 0.34% of individuals with early-onset, severe obesity may carry pathogenic or likely pathogenic variants in genes known to be associated with BBS or Alstrom syndrome (or 0.24%, excluding patient samples from a leading BBS clinic where higher frequency of BBS-related variants would expected). Including patients with variants of unknown significance (VUS), Rhythm estimates that 1.96% of individuals with early-onset, severe obesity may carry biallelic variants in one of 22 known BBS-associated genes or ALMS1.3

Also at the Overcoming Obesity 2021 Conference, Rhythm and its collaborators presented three additional abstracts as posters, all of which detailed previously reported clinical data:

Efficacy and Safety of the Melanocortin-4 Receptor Agonist Setmelanotide in Obesity Due to Bardet-Biedl Syndrome: a Phase 3 Trial, as presented by Dr. Robert Haws, M.D., Marshfield Clinical Research Institute;

Setmelanotide in POMC, PCSK1, or LEPR Heterozygous Deficiency Obesity (Phase 2), as presented by Sadaf Farooqi, Ph.D., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge Biomedical Research Centre, University of Cambridge;

Trial of a Once-Weekly Setmelanotide Formulation in Patients with Obesity, as presented by Annette Valles-Sukkar, Director Clinical Operations, Rhythm Pharmaceuticals.

All Rhythms presentations from Obesity Medicine Associations Overcoming Obesity 2021 Conference and its Digital Experience will be available on the Publication and Presentations section of its website: https://www.rhythmtx.com/publications/ .

About Rhythm PharmaceuticalsRhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity. Rhythms precision medicine, IMCIVREE (setmelanotide), was approved in November 2020 by the U.S. Food and Drug Administration (FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and in July and September 2021, respectively, by the European Commission (EC) and Great Britains Medicines & Healthcare Products Regulatory Agency (MHRA) for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity. Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity, and is leveraging the Rhythm Engine and the largest known obesity DNA database -- now with approximately 37,500 sequencing samples -- to improve the understanding, diagnosis and care of people living with severe obesity due to certain genetic deficiencies. Rhythms headquarters is in Boston, MA.

IMCIVREE (setmelanotide) IndicationIn the United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).

In the EU and Great Britain, IMCIVREE is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above. IMCIVREE should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.

Limitations of UseIMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:

Obesity due to suspected POMC, PCSK1, or LEPR deficiency with POMC, PCSK1, or LEPR variants classified as benign or likely benign;

Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, including obesity associated with other genetic syndromes and general (polygenic) obesity.

Important Safety Information

WARNINGS AND PRECAUTIONS

Disturbance in Sexual Arousal: Sexual adverse reactions may occur in patients treated with IMCIVREE. Spontaneous penile erections in males and sexual adverse reactions in females occurred in clinical studies with IMCIVREE. Instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.

Depression and Suicidal Ideation: Some drugs that target the central nervous system, such as IMCIVREE, may cause depression or suicidal ideation. Monitor patients for new onset or worsening of depression. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors.

Skin Pigmentation and Darkening of Pre-Existing Nevi: IMCIVREE may cause generalized increased skin pigmentation and darkening of pre-existing nevi due to its pharmacologic effect. This effect is reversible upon discontinuation of the drug. Perform a full body skin examination prior to initiation and periodically during treatment with IMCIVREE to monitor pre-existing and new skin pigmentary lesions.

Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants: IMCIVREE is not approved for use in neonates or infants.

ADVERSE REACTIONS

The most common adverse reactions (incidence 23%) were injection site reactions, skin hyperpigmentation, nausea, headache, diarrhea, abdominal pain, back pain, fatigue, vomiting, depression, upper respiratory tract infection, and spontaneous penile erection.

USE IN SPECIFIC POPULATIONSDiscontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus.

Treatment with IMCIVREE is not recommended for use while breastfeeding.

To report SUSPECTED ADVERSE REACTIONS, contact Rhythm Pharmaceuticals at +1 (833) 789-6337 or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

See Full Prescribing Information, EU SmPC and MHRA SmPC for IMCIVREE.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. All statements contained in this press release that do not relate to matters of historical fact should be considered forward-looking statements, including without limitation statements regarding the potential, safety, efficacy, and regulatory and clinical progress of setmelanotide, our expectations surrounding potential regulatory submissions, approvals and timing thereof, our business strategy and plans, including regarding commercialization of setmelanotide, and our participation in upcoming events and presentations. Statements using word such as expect, anticipate, believe, may, will and similar terms are also forward-looking statements. Such statements are subject to numerous risks and uncertainties, including, but not limited to, our ability to enroll patients in clinical trials, the design and outcome of clinical trials, the impact of competition, the ability to achieve or obtain necessary regulatory approvals, risks associated with data analysis and reporting, our liquidity and expenses, the impact of the COVID-19 pandemic on our business and operations, including our preclinical studies, clinical trials and commercialization prospects, and general economic conditions, and the other important factors discussed under the caption Risk Factors in our Quarterly Report on Form 10-Q for the quarterly period ended June 30, 2021 and our other filings with the Securities and Exchange Commission. Except as required by law, we undertake no obligations to make any revisions to the forward-looking statements contained in this release or to update them to reflect events or circumstances occurring after the date of this release, whether as a result of new information, future developments or otherwise.

Corporate Contact:David ConnollyHead of Investor Relations and Corporate CommunicationsRhythm Pharmaceuticals, Inc.857-264-4280dconnolly@rhythmtx.com

Investor Contact:Hannah DeresiewiczStern Investor Relations, Inc.212-362-1200hannah.deresiewicz@sternir.com

Media Contact:Adam DaleyBerry & Company Public Relations212-253-8881adaley@berrypr.com

_______________________________1 Assessments were taken for patients in Rhythms Phase 3 trials who experienced weight loss of at least five kilograms (or at least five percent of baseline body weight for the patients who weighed less than 100 kg). QOL was assessed using the Impact of Weight on Quality of Life-Lite (IWQOL-Lite) scale for patients 18 years or older, and using the Pediatric Quality of Life Inventory (PedsQL) for children and adolescents aged 8 to 12 and 13 to 17 years, respectively.2 The 64.5% figure represents a weighted yield from 8,599 URO samples collected as of July 12, 2021. Prior to May 2021, Rhythms URO panel tested for variants in 40 obesity-related genes, including 11 genes eligible for the DAYBREAK or EMANATE trials; data for those 11 genes is available in all 8,599 samples. Rhythm launched URO 2.1/3.0 in early May 2021, which now sequences 79 obesity-related genes and the 16p11.2 chromosomal region, including 25 additional DAYBREAK/EMANATE genes. Data on all 79 genes (including all 36 DAYBREAK/EMANATE genes) was available for 788 patients, and then used to calculate a weighted yield across the total study population.3 Data on the frequency of BBS and ALMS1 variants were collected from URO samples as of July 5, 2021, which included a smaller sample size of 8,459 sequenced individuals.

Excerpt from:
Rhythm Pharmaceuticals Presents New Data on Experience of People Living with Rare Genetic Diseases of Obesity and Provides Updates on Uncovering Rare...

image:By creating a genome-proteome map scientists have uncovered hundreds of novel connections between different human diseases. view more

Credit: Omicscience https://www.omicscience.org/. This figure has been generated with BioRender.com.

Hundreds of connections between different human diseases have been uncovered through their shared origin in our genome by an international research team led by scientists from the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, challenging the categorisation of diseases by organ, symptoms, or clinical speciality.

A new study published in Science today generated data on thousands of proteins circulating in our blood and combined this with genetic data to produce a map showing how genetic differences that affect these proteins link together seemingly diverse as well as related diseases.

Proteins are essential functional units of the human body that are composed of amino acids and coded for by our genes. Malfunctions of proteins cause diseases across most medical specialties and organ systems, and proteins are also the most common target of drugs that exist today.

The findings published today help explain why seemingly unrelated symptoms can occur at the same time in patients and suggest that we should reconsider how diverse diseases can be caused by the same underlying protein or mechanism. Where a protein is a drug target, this information can point to new strategies for treating a variety of conditions, as well as minimising adverse effects.

In the study using blood samples from over 10,000 participants from the Fenland study, the team led by senior author Dr Claudia Langenberg at the MRCEpidemiology Unit and Berlin Institute of Health at Charit Universittsmedizin, Germany, demonstrated that natural variation in 2,500 regions of the human genome is very robustly associated with differences in abundance or function of 5,000 proteins circulating in the blood.

This approach addresses an important bottleneck in the translation of basic science to clinically actionable insights. While large scale studies of the human genome have identified many thousands of variants in our DNA sequence that are associated with disease, underlying mechanisms remain often poorly understood due to uncertainties in mapping those variants to genes. By linking such disease-related DNA variations to the abundance or function of an encoded protein, the team produced strong evidence for which genes are involved, and identified novel mechanisms by which proteins mediate genetic risk into disease onset.

For example, multiple genome-wide association studies (GWAS) have linked a region of the human genome known as KAT8 with Alzheimers disease but failed to identify which gene in this region was involved. By combining data on both proteins and genes the team was able to identify a gene in the KAT8 region named PRSS8, which codes for the protein prostasin, as a novel candidate gene in Alzheimers disease. Similarly, they identified a novel risk gene for endometrial cancer (RSPO3).

The authors used these new insights to systematically test which of these protein-encoding genes affected a large range of diseases. They discovered more than 1,800 examples in which more than one disease was driven by variations in an individual gene and its protein products. What emerged was a network-like structure of human diseases, because many of the genes connected a range of seemingly diverse as well as related conditions in different tissues. This provides strong evidence that the respective protein is the origin, and points to new potential strategies for treatment.

Dr Langenberg explained:

An extreme example we discovered of how one protein can be connected to several diseases is the protein Fibulin-3, which we connected to 37 conditions, including hypermobility, hernias, varicose veins, and a lower risk of carpal tunnel syndrome. A likely explanation is atypical formation of elastic fibres covering our organs and joints, leading to differences in elasticity of soft and connective tissues. This is also in line with features that others have observed in mice where this gene was deleted.

Dr Maik Pietzner, a researcher at the MRC Epidemiology Unit and co-lead author of the study, added:

Using our genome as the basis was key to the success of this study. Because we know that most of the proteins detected in blood have their origin in cells from other tissues, we integrated different biological layers, like gene expression, to enable us to traceproteins back to disease-relevant tissues. For example, we found that higher activity of the enzyme bile salt sulfotransferase was associated with an increased risk of gall stones through a liver specific mechanism. We linked around 900 proteins to their tissue of origin in this way.

In collaboration with colleagues at the Helmholtz Centre in Munich, Germany, the authors have developed a bespoke web application (www.omicscience.org) to enable immediate dissemination of the results, and allow researchers worldwide to dive deeply into information on genes, proteins and diseases they are most interested in.

Dr Eleanor Wheeler, also at the MRC Epidemiology Unit and co-lead author of the study, concluded:

For most genomic regions associated with disease risk, the underlying causal gene and mechanism are not known. Our work demonstrates the distinctive value of proteins to zoom in on the causal gene for a disease and helps us to understand the mechanism through which genetic variation can cause disease. We envisage that the large amount of information we are sharing with the scientific community will help ongoing and emerging efforts to connect genes to diseases more directly via the encoded protein, thus facilitating accelerated identification of drug targets.

Reference

Pietzner M., Wheeler E., et al. Mapping the proteo-genomic convergence of human diseases. Science 2021;14 Oct 2021; DOI:10.1126/science.abj1541

ENDS

About the MRC Epidemiology Unit

The MRC Epidemiology Unit is a department at the University of Cambridge. It is working to improve the health of people in the UK and around the world.

Obesity, type 2 diabetes and related metabolic disorders present a major and growing global public health challenge. These disorders result from a complex interplay between genetic, developmental, behavioural and environmental factors that operate throughout life. The mission of the Unit is to investigate the individual and combined effects of these factors and to develop and evaluate strategies to prevent these diseases and their consequences. http://www.mrc-epid.cam.ac.uk

About the University of Cambridge

The University of Cambridge is one of the worlds top ten leading universities, with a rich history of radical thinking dating back to 1209. Its mission is to contribute to society through the pursuit of education, learning and research at the highest international levels of excellence.

The University comprises 31 autonomous Colleges and 150 departments, faculties and institutions. Its 24,450 student body includes more than 9,000 international students from 147 countries. In 2020, 70.6% of its new undergraduate students were from state schools and 21.6% from economically disadvantaged areas.

Cambridge research spans almost every discipline, from science, technology, engineering and medicine through to the arts, humanities and social sciences, with multi-disciplinary teams working to address major global challenges. Its researchers provide academic leadership, develop strategic partnerships and collaborate with colleagues worldwide.

The University sits at the heart of the Cambridge cluster, in which more than 5,300 knowledge-intensive firms employ more than 67,000 people and generate 18 billion in turnover. Cambridge has the highest number of patent applications per 100,000 residents in the UK.

http://www.cam.ac.uk

About the Medical Research Council

The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers money in some of the best medical research in the world across every area of health. Thirty-three MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. The Medical Research Council is part of UK Research and Innovation. https://mrc.ukri.org/

Observational study

People

Mapping the proteo-genomic convergence of human diseases

14-Oct-2021

Robert A. Scott and Adrian Cortes are current employees and/or stockholders of GlaxoSmithKline. ERG receives an honorarium from the journal Circulation Research of the American Heart Association as a member of the Editorial Board. Stephen O'Rahilly has received remuneration for consultancy services provided to Pfizer Inc, Astra Zeneca, ERX Pharmaceuticals, GSK, Third Rock Ventures and LG Life Sciences. All other authors declare that they have no competing interests.

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Filling the gaps: connecting genes to diseases through proteins - EurekAlert

Damian Adams grew up knowing that his parents had used an anonymous sperm donor to conceive him, and as a teen, he was even proud of this identity. He considered donating to help other families have children. Becoming a father himself, however, changed everything. When his daughter was born 18 years ago, he cradled her in his arms, and he instantly saw himself in her and her in himself. He felt a biological connection so powerful that it made him reconsider his entire life up until then. What Id had there with my daughter, he says, was one thing I had been missing in my life. He felt the need to know where he came from.

Adams, a biologist in Australia, would spend years searching for his biological father, running into one dead end after another. Meanwhile, he also began campaigning to end donor anonymity for others like him. In 2016, he and fellow activists pushed the state of Victoria to retroactively abolish anonymity for all sperm donors. (A previous law had already banned it from 1998 onward.) Donor-conceived people in the United Kingdom have also successfully campaigned to ban anonymous sperm donation. In the United States, where anonymous donation is still technically offered, some donor-conceived people are asserting a right to know their genetic origins and even to contact their biological parents, who may or may not welcome the surprise.

All of this was unimaginable a few decades ago. Doctors used to routinely advise parents to keep the use of a sperm donor secreteven from their own childrenand this silence reinforced a sense of shame about the practice. Today, parents are strongly encouraged to tell the truth; moreover, DNA tests mean they couldnt hide it even if they wanted to. As more people find out they are donor-conceived, they are in turn finding one another: They are gathering in online communities such as We Are Donor Conceived and other Facebook support groups catering to a mix of donors, parents, donor-conceived people, and others who have learned that their parents are not who they thought they were. There are also several podcasts, at least two magazines, and even training courses for therapists who work with people in this situation. The shared identity that connects this online community is small by proportion but large in raw numbers. An estimated 30,000 to 60,000 children conceived with donor sperm are born in the U.S. every year, though that statistic may well be an underestimate. The fertility industry doesnt have to keep records, so the true number is unknown.

In learning more about their own conception, some donor-conceived people have been shocked by the lack of transparency in the industry that created them. They have been disturbed to find, in some cases, that they have dozens of half siblings from the same donor, that doctors have secretly impregnated patients with their own sperm, or that donors have lied about themselves to sperm banksall at least partially because donation was anonymous. Now donor-conceived people like Adams are questioning the need for any secrecy at all. In a forthcoming book called Uprooted, Peter Boni, who learned he was donor-conceived at age 49, lays out a Donor-Conceived Bill of Rights that demands, first and foremost, the end of anonymous donations and includes access to a donors medical records, limits on the number of offspring per donor, and consequences for outright fertility fraud. Can you point to any federal law, Boni asked me rhetorically, that protects the rights of the donor-conceived child?

Indeed, the agreements around sperm donations were originally forged among donors, parents, and doctors. Fast-forward a few decades and the childrennow adultsare trying to change a fertility industry that sees them as neither its customers nor its patients, even though it is directly responsible for their existence. The issues raised might apply to both sperm and egg donation alike, though historically, the focus has been on sperm donation because its much more common. As donor-conceived people advocate for new rights today, they are also forcing society to confront a more fundamental question, one left perhaps inadequately answered all those years ago: How much do biological ties really matter?

In a recent newsletter, the journalist Alison Motluk, who covers assisted reproduction, highlighted a discussion comparing three scenarios in which people were cut off from a biological parent:

One had a biological parent die before they were born. A second had a biological parent abscond before they were born. A third was conceived using an anonymous donor. Why do we acknowledge loss and feel empathy in the first two scenarios but not in the third?

I liked the way the question was framed, in terms of empathy rather than the harder-edged language of rights. Because when donor-conceived people ask for regulations on the exchange of sperm, they are also asking for acknowledgment that this biological exchange matters, that biological origins matter. We naturally recognize this in situations where a child has never met a parent owing to tragic life circumstancesso how does the situation then differ when the bond is severed by biotechnology instead? In my conversations with donor-conceived people, they often grappled with comparisons to more familiar scenarios. They are asking for rights, but they are also asking for compassion.

Tiffany Gardner, now 39 and an attorney in Atlanta, told me she had lost her father, Ken, to colon cancer when she was 4. Although Gardner later became close to her stepfather, she continued to treasure the few things she knew about Kenhe had been good at baseball and horseback riding, and she gravitated toward the same sports to maintain some kind of connection. At age 35, Gardner learned that her parents had actually used a sperm donor, and when she eventually found him, via a DNA test, parts of her identity suddenly clicked into place. She saw a photo of the donors son and it was, she told me, my face popping up as a dude. Her biological father had been an art teacher, and Gardner immediately linked that detail to her own longing to go to art school when she was younger. These connections made it all the more painful when the donors family objected to his having a relationship with her, and he abruptly cut her off.

To Gardner, her desire to connect with her biological fatherher actual biological father, this timewas not so different from her desire to stay connected with Ken. Her immediate family has been supportive, she said, but shes faced some pushback from acquaintances and older family members. Ive had a couple people that are sort of like, I dont get it. Those people arent really your family. Why do you want anything to do with this? she told me. But to Gardner, genetic ties clearly matteredif not, why did she spend her first 35 years trying to connect with a dead father she never really knew?

Adams began asking these same questions when he became a father. Not long after his daughters birth, it occurred to him that if he died right there and then, people would acknowledge the tragedy of his daughter never getting to know him. They would all recognize I was her father, he told me. Or, he went on, lets say, for example, a one-night stand. People recognize that as a tragedy, when that person is not in that childs life. Or in adoption, we recognize that as being problematic. The adoption world has in fact moved toward more and more open adoptions.

Isnt the difference, I asked, that sperm donation never promises, even implicitly, a relationship, and in fact in most cases explicitly disavows one before conception? To Adams, that disavowal made the situation even worsethat society would intentionally create people cut off from their biological parents. The genetic connection was, to him, immutable. If the connection really meant nothing, Adams said, why do many couples who use an egg or sperm donor still choose to have the child be related to one parent? It cant be that the connection is meaningful in one case but not in the other.

Not every donor-sperm-conceived personthey are, after all, a large groupfeels the same about the strength of genetic connection. In a 2020 survey conducted by We Are Donor Conceived in its own Facebook group and another called the Worldwide Donor Conceived People Network, 67 percent of respondents wanted the donors identity to be known from birth. Only 33 percent, though, felt that donors needed to be available for a relationship with the child from birth.

But its also impossible to survey the donor-conceived people who never join these groups, for whom this fact about their birth might feel unremarkable. Anecdotally, at least, this is common. Many of the donor-conceived people Ive talked with mentioned half siblings who never responded to messages through 23andMe or AncestryDNA, or who responded politely once and stopped there. Some people might feel very little curiosity about their biological origins, says Brianne Kirkpatrick, a genetic counselor who has helped many people through DNA discoveries. Some might feel that any curiosity would be betraying their family, and some are simply more interested in donor siblings than the donor. Age or stage of life may play into how people react differently, Kirkpatrick suggests, but theres not much research on why. What donor-conceived people want is a question few people asked until recently.

Sperm donation has already changed dramatically in the past three to four decades, and some of the changes that donor-conceived people are pushing have indeed happened, even if they are not necessarily enshrined in law. The secrecy around the use of donor sperm, for example, has dissipated as more single women and lesbian couples have openly used sperm banks. The ethics committee of the American Society of Reproductive Medicine (ASRM) now strongly encourages parents to tell their children if they were donor-conceived. Fertility doctors have also gone from procuring live sperm samples themselvescommonly from medical studentsto ordering frozen sperm from banks that can more thoroughly, if not always perfectly, screen donors. ASRM guidelines suggest that banks voluntarily limit the number of births per donor to 25 in a given population of 800,000 people. And sperm banks are more likely to offer open-ID donations, in which the donor can be contacted by his biological children. Some banks still have anonymous donations, in which they dont share any donor information. But these days, I think someone would have to be intentionally ignorant to not realize anonymity is not possible, Kirkpatrick says. Even without more formal regulation of sperm donation, widespread DNA testing means theres no more hiding in the passage of time.

These shifts have left plenty of gaps, though: Sperm banks, for example, do not have to keep track of births or coordinate with one another, so one donor could still be a prolific biological father. (There are donors with more than 100 biological children.) And in practice, anonymous donation still leaves the job of identifying a biological parent to the donor-conceived person. This could be easy enough if they are lucky and get a close DNA match such as a half sibling or first cousin, but it may be impossible or near-impossible if not. Some donor-conceived people have spent years searching.

Even so, the changing landscape of sperm donation is impossible to ignore, and donor-conceived children have grown up into adults who have their own opinions. At the ASRMs annual meeting in Baltimore next week, a panel is scheduled to discuss Open Identity Gamete Donation: What Are the Children Saying? (Gamete is the scientific term for egg or sperm.) But Erin Jackson, the founder of We Are Donor Conceived, pointed out to me that, despite the panels name, it features four experts and the mother of a donor-conceived sonbut not any children who are donor-conceived. To her, this just revealed how the fertility industry continues to ignore the people it helped create.

When I inquired with the ASRM, the organizations chief advocacy and policy officer, Sean Tipton, underplayed the importance of a single panel. So does ASRM have any plans to engage with the donor-conceived community? I asked. We very well might, Tipton said, without specifying what that would entail. He also questioned whether they were in fact the right people to engage: Were including patients a lot more in our organizations deliberations but, again, these are not patients. Furthermore, he added, a 30-year-old, donor-conceived person in 2021is that the right person to consult about somebody whos going through the process now? After all, none of us has a say in the circumstances of our conception, natural or otherwise. If donor-conceived people have the right to know about their genetic parentage, we should also consider how that right extends to other aspects of parent-child relationships and in other situations, says Judith Daar, the dean of Northern Kentucky Universitys law school and the former chair of the ASRM ethics committee that drafted guidelines for disclosure about donor conception in 2018. For example, she says, theres a debate in the infertility community whether a child had a right to know they were conceived through IVF, which may reveal aspects of the parents private reproductive history. And what about naturally conceived children, Daar askswhat do parents owe them about their sex lives?

Most people dont want to know how they were conceived, you know? Jackson said. Its not something you want to picture. For her, its medical, though. And, more important when donors and sperm banks are involved, its commercial. Money changes hands. Contracts are signed. The feeling of commodification is very real, she told me. The fertility industry is responsible for the creation of human beings; it is also a multibillion-dollar industry that is growing every year. Donors, doctors, and parents today, Jackson said, should be thinking more clearly about the futurebeyond holding a baby in their arms to what that baby will want when they grow up. She sees inspiration in the campaigns to abolish donor anonymity in the U.K. and parts of Australia, and she hopes to turn We Are Donor Conceived into a nonprofit, so that it might more forcefully advocate for changes.

Adams, in Australia, did eventually find his biological father, after multiple DNA tests and investigative work spanning years. (Though he got a donor number from medical records, the number didnt match anyone.) They look like spitting images of each other. Anybody whos seen the photos of the two of us can spot it instantaneously, he said. Theyve met in person and speak frequently on the phone. He finally found the connection he had been searching for, and now he wants others to find it too.

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Do We Have a Right to Know Our Biological Parents? - The Atlantic

PALO ALTO, Calif., Oct. 12, 2021 /PRNewswire/ --BridgeBio Pharma, Inc. (Nasdaq: BBIO), a commercial-stage biopharmaceutical companythat focuses on genetic diseases and cancers, is announcing meaningful progress in its KRAS cancer portfolio, new programs in gene therapy, and advancements in cardiorenal and early-stage Mendelian programs at its second annual R&D Day today. BridgeBio will also discuss how it is broadening the scope of its R&D engine with the launch of its new early-stage research institute, BridgeBioX.

BridgeBio's R&D Day will feature presentations by Neil Kumar, Ph.D., BridgeBio founder and CEO; Richard Scheller, Ph.D., chairman of R&D at BridgeBio; Charles Homcy, M.D., chairman of pharmaceuticals at BridgeBio; Uma Sinha, Ph.D., chief scientific officer at BridgeBio; and scientists and physicians leading BridgeBio's drug discovery and development programs.

BridgeBio has more than 30 programs in its pipeline for patients living with genetic diseases and genetically-driven cancers. Fourteen of those programs are being advanced in the clinic or commercial setting, and earlier this year BridgeBio received its first two U.S. Food and Drug Administration (FDA) drug approvals.

R&D Day pipeline news and updates:

BridgeBio Precision Oncology

BridgeBio Gene Therapy

BridgeBio Cardiorenal

BridgeBioX

BridgeBio Mendelian

BridgeBio's R&D Day will be held today from 8:30 am ET 11:00 am ET and it will be webcast, with a link available in the event calendar on BridgeBio's investor website, https://investor.bridgebio.com/. A replay of the webcast will be available for one year following the event.

To register for BridgeBio's R&D Day, please sign uphere.

Agenda:

About BridgeBio Pharma, Inc.BridgeBio Pharma, Inc. (BridgeBio) is a biopharmaceutical company founded to discover, create, test and deliver transformative medicines to treat patients who suffer from genetic diseases and cancers with clear genetic drivers. BridgeBio's pipeline of over 30 development programs ranges from early science to advanced clinical trials and its commercial organization is focused on delivering the company's two approved therapies. BridgeBio was founded in 2015 and its team of experienced drug discoverers, developers and innovators are committed to applying advances in genetic medicine to help patients as quickly as possible. For more information visit bridgebio.com and follow us on LinkedIn and Twitter.

BridgeBio Pharma, Inc. Forward-Looking StatementsThis press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as "anticipates," "believes," "estimates," "expects," "intends," "may," "plans," "projects," "seeks," "should," "will," and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements include statements relating to expectations, plans and prospects regarding the preclinical and clinical development plans, clinical trial designs, clinical and therapeutic potential, and strategy of our product candidates, including, but not limited to: the unknown future impact of the COVID-19 pandemic delay on our ongoing development and/or our operations or operating expenses; the potential for our next-generation G12C dual inhibitors to be the first known compounds designed to directly bind and inhibit KRAS in both its active (GTP bound) and inactive (GDP bound) conformations driven by insights from its molecular dynamics platform; the potential of our precision oncology program and the timing of our selection of a RAS development candidate; the potential of BBP-818 to enable production of the GALT enzyme and to enable the body's natural ability to metabolize galactose in clinical trials; the potential and success of our Gene Therapy platform; the timing and success of BBP-711 for the treatment of primary hyperoxaluria type 1 and hyperoxaluria caused by hepatic overproduction of oxalate in recurrent kidney stone formers; the timing and success of acoramidis; the timing and success of our regulatory strategy for acoramidis; the timing and success of our planned meetings with regulatory health authorities, including the U.S. Food and Drug Administration (FDA), to discuss potential paths to registration prior to initiation of a Phase 3 registrational study of encaleret in patients with ADH1; the ability of encaleret to be the first approved therapy option indicated specifically for the treatment of ADH1; the success of BridgeBioX to test earlier scientific hypotheses in discovery research and target large, complex genetic diseases with high unmet need; the continuing success of our partnership with Stanford University; the timing and success of our Phase 2 trial of BBP-418; the potential for BBP-589 to be the only potential systemic treatment option being developed for patients with RDEB;reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to: initial and ongoing data from our preclinical studies and clinical trials not being indicative of final data; the potential size of the target patient populations our product candidates are designed to treat not being as large as anticipated; the design and success of ongoing and planned clinical trials, future regulatory filings, approvals and/or sales; despite having ongoing and future interactions with the FDA or other regulatory agencies to discuss potential paths to registration for our product candidates, the FDA or such other regulatory agencies not agreeing with our regulatory approval strategies, components of our filings, such as clinical trial designs, conduct and methodologies, or the sufficiency of data submitted; the continuing success of our collaborations; potential adverse impacts due to the global COVID-19 pandemic such as delays in regulatory review, manufacturing and supply chain interruptions, adverse effects on healthcare systems and disruption of the global economy; and those risks set forth in the Risk Factors section of our most recent annual report on Form 10-K filed with the U.S. Securities and Exchange Commission (SEC) and our other SEC filings. Moreover, BridgeBio operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. These forward-looking statements are based upon the current expectations and beliefs of BridgeBio's management as of the date of this release and are subject to certain risks and uncertainties that could cause actual results to differ materially from those described in the forward-looking statements. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

BridgeBio Media Contact:Grace Rauh[emailprotected](917) 232-5478

BridgeBio Investor Contact:Katherine Yau[emailprotected](516) 554-5989

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BridgeBio Pharma Announces Progress in its KRAS Portfolio, New Gene Therapy Programs, and Updates on Advancements Across its R&D Pipeline Targeting...

A researcher at the OU College of Medicine has weighed in on a large genetics and COVID-19 study that was recently completed.

The study found 13 genes which could play a role in contracting the virus and how severe someone's battle with COVID-19 could be.

"Some people get COVID and nothing happens, said Dr. Dharambir Sanghera, Professor of Pediatric Genetics at the OU College of Medicine. "And they are asymptomatic. Some people, the disease gets so aggravated, and they get so severely sick they end up in hospitals and sometimes after hospitals people end up dying."

The answer as to why, Sanghera said, could lie in genetics.

"This is the first time we are seeing this association," Dr. Sanghera said.

Some of the genes found could slightly protect people from getting infected, such as having Type O blood, which has been predicted before.

However, 13 were found to predispose some more than others to more severe cases of covid-19, especially genes like obesity

"All the diabetes is also linked to severity of COVID," Dr. Sanghera said.

She said Oklahoma's poor health track record has played a role in the outcomes in the state and in the U.S.

"We are ranked second in chronic respiratory diseases and ranked four in cancer diabetes and obesity," Dr. Sanghera said.

Dr. Sanghera also said more genetic studies need to be completed to understand who is at the highest risk.

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OU College Of Medicine Researcher Sheds Light On Connection Between Genes, COVID-19 - News On 6

FARGO, N.D., August 30, 2021--(BUSINESS WIRE)--Agathos Biologics, a biotechnology company developing transformational science within a strong ethical and moral framework, today announced the company has been awarded $900,000 from the North Dakota Department of Agriculture Bioscience Innovation Grant (BIG) Program. Agriculture Commissioner Doug Goehring announced that nine grants have been awarded totaling $4.9 million to foster the growth of the bioscience industry in North Dakota. "Advances in bioscience have already transformed many sectors including agriculture and medicine," Goehring said. "These grants will help North Dakota stay on the forefront of bioscience innovation."

Agathos Biologics project funded by ND BIG will focus on challenges that limit patient access to advanced genetic medicines that can significantly impact quality of lifecost, availability, and ethical concerns. Company scientists will create new materials and methods for research and biomanufacturing and use them for drug development, which will address unmet medical needs and increase the availability of genetic medicines to more patients. The company will make these products and services available to the broader biotechnology industry through direct sales and licensing, partnerships, and collaborations.

"We are honored to receive this support from the State of North Dakota and thank the Commissioner and the Committee for their work on behalf of the citizens of the state," said James Brown, Chief Executive Officer of Agathos Biologics. "We founded the company in North Dakota because its business-friendly environment, skilled workforce, and growing biotechnology ecosystem make it an ideal place to expand the company and achieve our goal to develop genetic medicine products and services that positively impact human health and are ethically acceptable to all."

About Agathos Biologics

Agathos Biologics is a biotechnology company pursuing transformational science in biomanufacturing, biologic payload delivery, and cell and gene therapy. Discoveries in bioprocessing and genetic characterization and control have created an abundance of scientific possibilities that can help us all lead better lives. Our mission as the good science company is to create breakthrough products and services within a strong ethical and moral framework that benefits everyone. We believe in science that serves and have a relentless focus on serving our clients, employees, and society. For more information, please visit http://www.agathos.bio.

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James BrownCEO701-415-3395james.brown@agatho.bio

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Agathos Biologics Receives $900,000 from the North Dakota Bioscience Innovation Grant Program - Yahoo Finance

In the United States, one in 9 males will get prostate most cancers and greater than 4 million males are at the moment dwelling with the illness.

Today, on the eve of Prostate Cancer Awareness Month, researchers from Johns Hopkins University and the University of Washington School of Medicine introduced theyre collaborating on a first-of-its-kind long-term observational examine to find out how genetic variations can have an effect on affected person outcomes. Dubbed PROMISE (Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness), this analysis will study how explicit genetic profiles can:

PROMISE researchers are looking for prostate most cancers sufferers nationwide, ages 18+ with particular inherited genetic elements utilizing a saliva DNA take a look at. PROMISE will entry every affected persons medical info by way of their doctor each six months. PROMISE will even survey taking part sufferers each six months about their remedy expertise.

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While genetic info has contributed to advances in remedy of illnesses resembling breast most cancers, it has not been extensively utilized in prostate most cancers. Researchers anticipate that the PROMISE examine will result in necessary new discoveries, new analysis and new remedy therapies.

If we want to better understand prostate cancer, we have to better understand genes, defined Dr. Heather Cheng, PhD, affiliate professor of medical oncology at the University of Washington School of Medicine; director of the Prostate Cancer Genetics Clinic at Seattle Cancer Care Alliance; college member at Fred Hutchinson Cancer Research Center; and co- lead investigator of PROMISE. This information is the next step in our collective fight against the disease.

Find out whats occurring in Philadelphia with free, real-time updates from Patch.

Dr. Cheng is working intently with Dr. Channing Paller, affiliate professor of oncology and urology at Johns Hopkins University, Sidney Kimmel Comprehensive Cancer Center; affiliate director for oncology of the Johns Hopkins Clinical Research Network; and co-lead investigator of PROMISE. They know that prostate most cancers could also be written in some maless genes, however so are directions for locating new therapies and understanding household danger. Together, Dr. Cheng and Dr. Paller will convey extra genetic info to the battle towards prostate most cancers.

How PROMISE works

PROMISE is totally free. Participants proceed with their present healthcare supplier and dont want to go away residence to take part. Registration will be executed on-line and PROMISE will ship a easy, home-based DNA take a look at equipment. Participants present a saliva pattern and return it by way of pre-paid U.S. mail. The equipment will display screen for 30 most cancers danger genes. PROMISE will ship the outcomes and will present a licensed genetic counselor to assist individuals perceive their outcomes. Participants will be taught if theyve any gene mutations that may have an effect on their care plan. The outcomes could inform sufferers of obtainable remedy choices and beforehand unknown dangers of members of the family growing most cancers.

Benefits of becoming a member of the PROMISE examine.

Prostate most cancers sufferers who be a part of PROMISE will:

PROMISE is supported by a gaggle of mission-driven nonprofit organizations. Study administration is offered by The Prostate Cancer Clinical Trials Consortium (PCCTC). No pharmaceutical corporations or any business pursuits are supporting this analysis. To be taught extra, go to prostatecancerPROMISE.org.

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First-of-its-Kind Study Looks at Link Between Genes and Prostate - News Chant USA