28 Feb 2017 | Population Bio Recognizes World Rare Disease Day 2017 with a Commitment to Provide New Insights into Rare Diseases
Pioneering technology platform rapidly uncovers the genetic causes of unsolved diseases and redefines the understanding of rare and complex genetic diseases.
Melville, NY, (February 28, 2017) Population Bio (PB) – a global leader in gene discovery announced, in support of World Rare Disease Day, its continued investment in its CNV Beacon® gene discovery platform which delivers new knowledge about rare diseases.
21 Dec 2016 | Population Diagnostics Announces Corporate Name Change to Population Bio to Signify its Broad Precision Medicine Focus
Population Diagnostics – a global leader in gene discovery for complex disease announced today that it is changing its corporate name to Population Bio. The name change reflects the company's broader commitment to precision medicine and its expertise in driving the innovations needed to shape the future of drug development and predictive diagnostics. The new name is effective immediately.
Collaboration Announced Between Researchers at University of California Irvine and Population Diagnostics, Inc. at Rare Disease Event in Southern California.
The Spooner Girls Foundation , University of California, Irvine School of Medicine, (UCI) and Population Diagnostics, Inc. (PDx), announced today a collaborative research initiative focused on the NUBPL gene at the Spooner family's annual fundraising event in Irvine.
25 Sep 2014 | POPULATION DIAGNOSTICS' SAB MEMBER, DR. STEPHEN SCHERER, IS PREDICTED TO WIN A NOBEL PRIZE FOR HIS CONTRIBUTION TO THE RELEVANCE OF CNVS IN HUMAN BIOLOGY
Thomson Reuters – September 25, 2014 – Dr. Stephen Scherer, a Scientific Advisory Board member at Population Diagnostics, Inc., is predicted to win a Nobel Prize in Medicine based on their Citation Laureates analysis. Dr. Scherer is recognized for his contributions to the discovery of an important form of human genetic variation – copy number variants (CNVs) – and its role in human genomes and disease (e.g., autism).
18 Sep 2014 | Redefining Common Disorders as Collections of Rare Subtypes: Implications for Orphan Drugs
Event – Copenhagen, Denmark – September 17-19, 2014. The 4th Annual Orphan Drugs Summit 2014. Dr. Eli Hatchwell, Population Diagnostics' CSO, is an invited speaker and will deliver a presentation with the following abstract:
That common disorders with a significant genetic component could be explained on the basis of common genetic variations is an idea that has failed in practice. Only a very small percentage of the heritability for disorders such as Parkinson's Disease (PD) and Alzheimer's Disease (AD) has been explained on this basis. Population Diagnostics was founded on the basis that such common disorders are actually collections of rare subtypes, with common end phenotypes. We have developed methodologies to rapidly and efficiently uncover rare, 'causal' (high effect size) variants underlying disorders such as PD. We have confirmed that PD, for example, may eventually be subdivided into >30 genetic subtypes, each of which is associated with its own genetics/biochemistry and, in some cases, clinical profile. Each common disease will be redefined as a collection of rare disorders. The result is that it is unlikely that blockbuster drugs will be found that are useful in an undiluted cohort of patients with a particular disorder. Rather, specific drugs will need to be developed for specific subtypes of a disease, increasing dramatically the need for Orphan Drug development.
Event – Edison, NJ – June 11–12, 2014. BioPharma Research Council (BRC) D2D Conference: Data To Drugs and Diagnostics. Jim Chinitz, Population Diagnostics' CEO is an invited speaker and will deliver a presentation with the following abstract:
While the one-size-fits-all therapeutic paradigm is expected to ebb with the evolution of personalized medicine, this will remain a cliché for complex diseases (e.g. Parkinson's, Alzheimer's) until a much larger portion of subtypes are properly delineated. As evidence, Leukemia comprises >40 different rare subtypes and Lymphoma comprises >50 different rare subtypes and is considered today one of the most successful diagnostic and treatment arenas because of successful subtyping and treatment of these blood disorders. Thus, it shouldn't be a mystery why a good drug candidate is often only efficacious in a limited group of individuals when patients with a disease are lumped together based on phenotype alone. This presentation will explore the decade-long attempt to find common genetic variants that have clinical utility. Having failed, the same community is now highly leveraged on a new promise of NextGen Sequencing, so therefore, what are realistic expectations for finally solving common diseases?
2 Mar 2014 | Genetic Variation in Mitochondrial Complex I Genes are Associated with Parkinson's Disease
Event – Keystone, CO – March 2-7. Parkinson's Disease: Genetics, Mechanisms and Therapeutics. Dr. Peggy Eis, Population Diagnostics' CTO, is to present a poster with the following abstract:
Our genome-wide Parkinson's Disease (PD) gene discovery study provides the first genetic evidence that rare variants impacting Complex I (NADH dehydrogenase) genes may be causing mitochondrial dysfunction in PD patients. Complex I (CI) deficiency was linked to PD over 20 years ago [Schapira et al. 1989] and PD-causing genes (LRRK2, PARK2, PARK7, PINK1, SNCA) are known to be involved in mitochondrial dysfunction [Gautier et al. 2013]. However, no mutations have previously been identified in nuclear CI genes, although there have been some reports of links to mitochondrial DNA variants [OMIM 556500] in PD patients. Our gene discovery study on ~470 PD cases (27% familial, 73% sporadic) was performed using array CGH and novel CNV analysis methods, which provides superior signal-to-noise and resolution as compared to prior CNV studies using SNP genotyping microarray data. Our approach – the CNV Beacon method – provides a dramatic reduction in the genome search space to enable rapid, cost-effective discovery of genes that are causative or contributing to complex diseases such as Parkinson's and Alzheimer's. Once CNV-identified genes are found, targeted sequencing is performed to reveal additional variants (e.g., SNVs) that are associated with the disease. We will report on three CI genes found to have loss-of-function copy number variants (CNVs) in a subset of PD patients, including sequencing data for one CI gene known to cause CI deficiency in pediatric patients via an autosomal recessive mechanism. Our hypothesis is that heterozygous carriers of autosomal-recessive mutations in CI genes have an increased risk for PD, as has analogously been found for the disease-causing genes GBA [Gaucher's disease; OMIM 606463] and NPC1 [Niemann-Pick disease; OMIM 257220], both of which are associated with PD.
20 Nov 2013 | New Parkinson's Disease Genes Discovered by the Parkinson's Institute and Clinical Center and Population Diagnostics, Inc.
The Parkinson's Institute and Clinical Center announced today that they, in partnership with Population Diagnostics, Inc., have discovered a number of new genes relevant to the cause of Parkinson's disease.
The innovative approach used for this study focuses first on genome-wide investigation of gene copy number variants (CNVs) followed by targeted sequencing of CNV-identified candidate genes. This strategy dramatically reduces the genome search space as compared to more traditional gene discovery tools such as single nucleotide polymorphism (SNP) analysis or exome sequencing methods. The study revealed a number of candidate genes with compelling new biological links to Parkinson's disease as well as links to previously discovered Parkinson's genes such as alpha-synuclein and LRRK2 (the most common known cause of familial or inherited Parkinson's disease).
10 Dec 2012 | Population Diagnostics, Inc. and The Hospital for Sick Children Discover Novel Genetic Variants Associated with Autism Spectrum Disorder
Peer-Reviewed Findings Provide Medically Relevant Content for Early Detection Pre-symptomatic Diagnostics for Autism as well as New Insights into Drug Discovery
Study Demonstrates Potential of Population Diagnostics' Gene Discovery Platform
Event – Jerusalem, Israel – August 1-2, 2012 – icare4autism's 2012 International Autism Conference. Dr. Eli Hatchwell, Population Diagnostics' CSO, is an invited speaker and will chair the Genetics Section at Icare4autism's 2012 International Autism Conference.
02 Nov 2011 | Nature Medicine Article Comments on Population Diagnostics’ Autism DNA Test Development
Nature Medicine – November 2, 2011 – journal article on autism Dx testing discusses Population Diagnostics’ test development for pre-symptomatic diagnosis in newborns. Early detection is advocated by clinicians and researchers, “The earlier the diagnosis, the earlier you can start some type of interventional therapy,” said Dr. Stephen Scherer at Toronto's Hospital for Sick Children.
Press Release – Melville, NY – September 15, 2011 – Population Diagnostics, Inc. (PDx), a private company with a novel approach for systematically uncovering the genetic causes of disease as well as the genetic basis of drug efficacy and safety, announced today the appointment of Sir Walter Bodmer to its Scientific Advisory Board.
02 Nov 2010 | Population Diagnostics Awarded Two Federal Grants to Support Its Autism and Parkinson’s Disease Programs
Grant Awards – November 2, 2010 – Population Diagnostics was awarded two federal grants totaling $489,000 under a provision of the Patient Protection and Affordable Care Act enacted in 2010. The grant applications, which were reviewed and approved by the Department of Health and Human Services (HHS), are entitled:
"Development of an Autism Early Detection Genetic Test"
"A Rational & Systematic Approach to Parkinson's Disease ("PD") Drug Therapy Development"
12 Sep 2010 | Population Diagnostics Submits Public Comments to the FDA Regarding Laboratory-Developed Test (LDT) Regulation
Public comments (Docket ID FDA-2010-N-0274) – September 12, 2010 – Population Diagnostics submitted comments to the FDA in response to the July 19-20 meeting held for public input on a proposal to increase oversight of LDTs, which are currently regulated by the Clinical Laboratory Improvement Amendments (CLIA).
Event – Jerusalem, Israel – July 5-6, 2010 – icare4autism’s 2010 International Autism Conference. Dr. Eli Hatchwell, Population Diagnostics CSO and Associate Professor at SUNY Stony Brook, was an invited speaker and chaired the Genetics Section at Icare4autism’s 2010 International Autism Conference.
17 May 2010 | Population Diagnostics Receives Grant from National Institutes of Health for Parkinson’s Disease Study
Press Release –Melville, NY– May 17, 2010 – Population Diagnostics, Inc. (PDx), a private company with a novel approach to revealing the genetic causes of disease and predicting drug response, announced today it has been awarded a federal grant to identify the genetic causes of Parkinson’s Disease. Funded by the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health, the project is being led by Eli Hatchwell, MD, PhD, an Associate Professor at Stony Brook University Medical Center and a co-founder of PDx.
Event – San Francisco, CA – February 5, 2010 – CHI’s 17th International Molecular Medicine Tri-Conference 2010. CEO Jim Chinitz, invited speaker in Diagnostics Channel session: Personalized Diagnostics: “Under the Hood” Technologies for Molecular Diagnostics, Innovative Diagnostics for Personalized Medicine
Press Release – Melville, NY – January 13, 2010 – Population Diagnostics, Inc. (PDx), a private company developing a new generation of molecular diagnostic and personalized medicine companion tests, announced today the appointment of Dr. Peggy Eis as Chief Technology Officer
Event – New Orleans, LA – November 2, 2009 – 53rd Annual American Osteopathic Association (AOA) Research Conference. CEO Jim Chinitz, invited speaker in session “The Translation of Genomic Science into Osteopathic Clinical Practice and Research”
Press Release – Melville, NY – June 17, 2008 – Population Diagnostics, Inc. (PDx) announced today that it has won a technology innovation awarded by NY Loves Bio… sponsoring PDx in the New York Pavilion at the BIO 2008 International Conference
04 Apr 2008 | World Autism Awareness Day interview with Population Diagnostics Cofounder
Dr. Eli Hatchwell
CNN International (London Studio) – April 4, 2008 – Anchorwoman Rosemary Church
19 Mar 2008 | Researchers Identify Copy Number Variation Linked to Autism by Subtracting
GenomeWeb Daily News – March 19, 2008 – Article featuring Population Diagnostics cofounder Dr. Hatchwell’s discovery of autism gene Contactin 4 (CNTN4) [Journal of Medical Genetics publication] and the company’s normal variation core technology for discovery of disease genes
Newday– March 19, 2008 – Population Diagnostics, Inc. announced today that its mutation discovery technology was used to reveal genetic biomarkers associated with autism
Reuters – March 19, 2008 – Health and Science article featuring Population Diagnostics cofounder Dr. Hatchwell’s discovery of autism gene Contactin 4 (CNTN4) [Journal of Medical Genetics paper]; cites Population Diagnostics is developing early detection tests for autism and other genetic diseases