Syndicate content

Eminenent Geneticist Eric S. Lander Honored with 2018 William Allan Award from American Society of Human Genetics (ASHG)

The American Society of Human Genetics (ASHG) has named Eric S. Lander, PhD, President and Founding Director of the Broad Institute of MIT and Harvard, the 2018 recipient of the annual William Allan Award. The Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics, was established in 1961 in memory of William Allan, MD (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Dr. Lander received his award, which included an engraved medal and $25,000 prize, on Thursday, October 18, 2018, during ASHG’s 68th Annual Meeting in San Diego, California. He presented his William Allan Award address immediately thereafter. Dr. Lander has been a major leader in the study of the human genome and in the Human Genome Project. In 1986, he and David Botstein, PhD, laid out fundamental ideas for key methods in human genetics—including for linkage disequilibrium mapping in populations, which has enabled the discovery of genes underlying common polygenic traits by genome-wide association studies. From this work, Dr. Lander saw the need for a detailed genetic map of the human genome. He then played a central role in creating the genetic, physical, and sequence maps of the human and mouse genomes. He also led efforts to discover millions of single-nucleotide polymorphisms (SNPs), which have enabled efficient mapping of genes related to human diseases, including more than 30,000 loci underlying common diseases and traits. Dr. Lander helped pioneer the use of genome-wide expression analysis to characterize tumors. This initial work led to the creation of The Cancer Genome Atlas (TCGA), a comprehensive catalog of cancer genes that defines and details the molecular architecture of the most common human malignancies.

Extraordinary Physician-Scientist James Lupski Honored with Victor A. McKusick Leadership Award from American Society of Human Genetics

The American Society of Human Genetics (ASHG) has named James R. Lupski, MD, PhD, as the 2018 recipient of the Victor A. McKusick Leadership Award. Dr. Lupski is Cullen Professor of Molecular & Human Genetics and Professor of Pediatrics at Baylor College of Medicine and attending medical geneticist at Texas Children’s Hospital in Houston, Texas. This award, named in honor of the late Victor A. McKusick, MD, of Johns Hopkins, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine, and health. The ASHG presented the McKusick Award, which will include a plaque and $10,000 prize, to Dr. Lupski on Tuesday, October 16, during the organization’s 68th Annual Meeting in San Diego, California. “I knew Victor McKusick quite well and have had many meaningful scientific discussions with him,” said Dr. Lupski. “He was a terrific physician-scientist, visionary, and true leader, and this award in his name is a tremendous honor for me.” Dr. Lupski’s research focuses on understanding mutational mechanisms and linking specific mutations and genes to human disease. Dr. Lupski started his laboratory at Baylor College of Medicine in 1989, where he still resides. His most significant contributions to genomics are centered around conceptualizing and understanding the mechanisms underlying genomic disorders. This is seen through his studies of Charcot-Marie Tooth (CMT) disease – specifically, duplication of the CMT1A gene. In 1991, Dr. Lupski showed that CMT1A copy number variation (CNV) and gene dosage are causes of CMT-related peripheral nerve dysfunction. In 2014, he and his colleagues found that the presence of three copies of CMT1A on one chromosome 17, a phenomenon known as triplication, causes a more severe form of CMT. Dr.

Brain Signature of Depressed Mood Unveiled in New Study--Powerful Link Between Mood-Associated Beta Waves in Amygdala & Hippocampus Seen in Those with High Pre-Existing Anxiety

Most of us have had moments when we're feeling down -- maybe we can't stop thinking about our worst mistakes, or our most embarrassing memories – but, for some, these poor mood states can be relentless and even debilitating. Now, new research from the University of California-San Francisco (UCSF) has identified a common pattern of brain activity that may be behind those feelings of low mood, particularly in people who have a tendency towards anxiety. The newly discovered network is a significant advance in research on the neurobiology of mood, and could serve as a biomarker to help scientists developing new therapies to help people with mood disorders such as depression. Most human brain research on mood disorders has relied on studies in which participants lie in an fMRI scanner and look at upsetting images or listen to sad stories. These studies have helped scientists identify brain areas associated with emotion in healthy and depressed individuals, but they don't reveal much about the natural mood fluctuations that people experience over the course of a day or provide insight into the actual mechanisms of brain activity underlying mood. Newly published research by UCSF Health neurosurgeon and neuroscientist Edward Chang, MD, and psychiatrist and neuroscientist Vikaas Sohal, MD, PhD -- both members of the UCSF Weill Institute for Neurosciences and the recently launched UCSF Dolby Family Center for Mood Disorders -- has begun to fill these gaps in our understanding of the neuroscience of mood by continuously recording brain activity for a week or more in human volunteers and linking their day-to-day mood swings to specific patterns of brain activity.

Illumina to Acquire Pacific Biosciences for $1.2 Billion, Broadening Access to Long-Read Sequencing & Accelerating Scientific Discovery--Conference Call Replay Available Through November 8

On November 1, 2018, Illumina, Inc. (NASDAQ: ILMN) and Pacific Biosciences (NASDAQ:PACB) announced they have signed an agreement for Illuminato acquire Pacific Biosciences at a price of $8.00 per Pacific Biosciences share in an all-cash transaction. This price represents a premium of 71% to Pacific Biosciences’ 30 trading day volume weighted average share price as of the market close on October 31st, 2018, and a total enterprise value of approximately $1.2 billion on a fully diluted basis. The agreement has been approved by the boards of directors of Illumina and Pacific Biosciences. The acquisition complements Illumina sequencing solutions with accurate long-read sequencing capabilities to answer a set of complex genomic questions. While Illumina’s accurate and economic short-read sequencing platforms address the majority of sequencing applications optimally, select applications, such as de novo sequencing and sequencing of highly homologous regions of genomes, are better addressed with accurate long-reads. With its acquisition of Pacific Biosciences, Illumina will be positioned to provide integrated workflows and novel innovations that bring together the best of both technologies to help researchers advance their discoveries faster and clinicians offer new tests economically. “PacBio’s unmatched accuracy mirrors that of Illumina’s in short-read sequencing. Combining the two technologies positions us to reach more applications, accelerate the pace of genomic discovery and bolster our innovation engine which has been a hallmark of Illumina since our inception,” said Francis deSouza, President and CEO of Illumina. “PacBio’s relentless pursuit to improve sequencing accuracy, while driving down the cost, underscores the potential of long-reads to expand sequencing to new customers and applications.”

Precision Medicine World Conference (PMWC) 2019 Conference in January in Silicon Valley; Q&A Session with Luminary Award Winner & CAR-T Pioneer Carl June, MD, Available Now

The Precision Medicine World Conference (PMWC), celebrating 10 years of operation, will take place at the Santa Clara Convention Center (Silicon Valley, California) January 20-23, 2019. This is expected to be the largest Precision Medicine World Conference ever with 2,500 attendees. This amazing gathering of prestigious experts in multiple inter-related fields and those interested in learning more is co-hosted by UCSF, Stanford Health Care/Stanford Medicine, Duke University, Duke Health, and Johns Hopkins University. The program will cover innovative technologies, thriving initiatives, and clinical case studies that enable the translation of precision medicine into direct improvements in health care. Conference attendees will have an opportunity to learn first-hand about the latest developments and advancements in precision medicine and cutting-edge new strategies and solutions that are changing how patients are treated. The conference’s five-track program will include sessions on the following major topics, among many others: AI & Data Science; Clinical & Research Tools; Clinical Dx; Creating Clinical Value with Liquid Biopsy ctDNA, etc.; Digital Health/Health and Wellness; Pharmacogenomics; Emerging Technologies in Precision Medicine; Immunotherapy; Large-Scale Bio-Data Resources to Support Drug Development; Rare Disease Diagnosis; and Wellness & Aging. Conference organizers have assembled a hugely impressive lineup of 450+ highly regarded speakers, featuring pioneering researchers and authorities across the healthcare and biotechnology sectors (https://www.pmwcintl.com/2019sv/speakers/).

LUMINARY & PIONEER AWARDS

Head of Early-Phase Development & Immuno-Oncology at Eli Lilly Endoses Upcoming Precison Medicine World Conference (PMWC 2019) in January in Silicon Valley

What follows is a note from Kimberly Blackwell, MD, Head of Early-Phase Development & Immuno-Oncology at Eli Lilly & Co., endorsing attendance/participation in the upcoming Precision Medicine World Conference 2019 (PMWC 2019), January 20-23 in Silicon Valley, California (venue: Santa Clara Convention Center (https://www.pmwcintl.com/2019sv/). Dr. Blackwell is the Immunotherapy Track Chair for PMWC 2019. Prior to joining Eli Lilly, Dr. Blackwell was a Professor of Medicine and Assistant Professor of Radiation Oncology at Duke University Medical Center, and she was also Co-Director of the Duke Women’s Cancer Program and Associate Director for Strategic Relations for the Duke Cancer Institute.Following is the message from Dr.Blackwell: “The Nobel Prize in Medicine was awarded on October 1, 2018 to Dr. James Allison (MD Anderson) and Dr. Tasuku Honjo (Kyoto University) for their work on unleashing the body’s immune system to attack cancer, a breakthrough that has led to an entirely new class of drugs and brought lasting remissions to many patients who had run out of options. Given these recent high-impact developments and success stories, PMWC 2019 Silicon Valley has dedicated an entire track of its program to Immunotherapy, with ten individual sessions and a fully dedicated technology showcase of companies developing products in the field. I am pleased to announce that Dr. Carl June will join me in a Fireside Chat at the opening of the Track. Dr. June was the driving force behind the first FDA-approved gene therapy – Kymriah, a chimeric antigen receptor (CAR) T cell therapy for B-cell acute lymphoblastic leukemia. See Dr. June's interview (https://www.pmwcintl.com/carl-june-2019sv-qa/).

Patient-Customized Anti-Sense Therapy Possibly Successful for Young Girl with MFSD8/CLN7 Batten Disease, an Ultra-Rare and Generally Fatal Genetic Disease

On October19 at that 2018 ASHG Annual Meeting in San Diego, scientists from Boston Children’s Hospital & collaborating institutions reported apparently successful treatment of a six-year-old girl’s (Mila) Batten disease with an antisense oligonucleotide customized to the girl’s specific disease-causing alteration in the intron of the MFSD8/CLN7 gene, a key lysosomal gene. The alteration was due to the insertion of a retrotranspon into the intron. The text of ASHG presentation abstract is given below. Links to articles on work are provided at the end. The ASHG abstract was titled “Patient-Customized Oligonucleotide Therapy for an Ultra-Rare Genetic Disease” And was #3570 in the ASHG’s meeting program. The presentation was given in the ASHG’s Late-Breaking Abstract Session. Here is the text of the presentation abstract: “Next generation sequencing has revolutionized the diagnosis of rare genetic diseases. However, many patients still suffer from a lack of therapeutic options for most of these conditions, which in aggregate impact tens of millions of individuals globally. Here, we demonstrate a dramatically new pathway for the treatment of even ultra-rare genetic diseases. A six year old girl (Mila) developed progressive blindness, epilepsy, and neurocognitive regression. Whole-genome sequencing and RNA-seq revealed a maternally inherited retrotransposon inserted into an intron of MFSD8/CLN7, a key lysosomal gene. The insertion was found to cause exon trapping, leading to gene inactivation. This mutation, in combination with a paternal missense mutation in the same gene, caused Batten Disease, a rare, recessive disorder of neuronal lysosomal storage. No treatments exist for CLN7 Batten disease. Unchecked, it is rapidly progressive and ultimately fatal.

Conference on ARPKD/CHF Features Eminent Speakers from Children’s Hospital of Philadelphia (CHOP) and NIH

The ARPKD/CHF Alliance (autosomal recessive polycystic kidney disease/congenital hepatic fibrosis) held a major conference "Empowering the Patient" on Saturday, November 3, at world-renowned Children's Hospital of Philadelphia (CHOP). The all-day conference, which was attended by ARPKD/CHF families from around the country, featured lectures by world-class kidney and liver disease experts from CHOP, an update on the clinical drug trial of tesevatinib (https://en.wikipedia.org/wiki/Tesevatinib), a moving personal story from a mother of a child with ARPKD, and closed with the keynote address by Theo Heller, MD, Chief of the Translational Hepatology Section, Liver Disease Branch, NIDDK, NIH, who provided an update on a 10-year NIH research project on ARPKD/CHF. Dr. Heller noted that this research project would never have taken place if not for the herculean lobbying efforts of Colleen Zak, MSN, CRNP, President & Founder of the ARPKD/CHF Alliance. David Piccoli, MD, Chief, Division of Gastroenterology, Hepatology and Nutrition, CHOP, and Susan Furth, MD, PhD, Chief, Divison of Nephrology, CHOP, introduce the day's meeting.

STUNNER: Appendix Identified As Potential Starting Point for Parkinson's Disease

Removing the appendix early in life reduces the risk of developing Parkinson's disease by 19 to 25 percent, according to the largest and most comprehensive study of its kind, published in the October 31, 2018 issue of Science Translational Medicine. The open-access article is titled “The Vermiform Appendix Impacts the Risk of Developing Parkinson’s Disease.” The findings also solidify the role of the gut and immune system in the genesis of the disease, and reveal that the appendix acts as a major reservoir for abnormally folded alpha-synuclein proteins, which are closely linked to Parkinson's onset and progression. "Our results point to the appendix as a site of origin for Parkinson's and provide a path forward for devising new treatment strategies that leverage the gastrointestinal tract's role in the development of the disease," said Viviane Labrie, PhD, an Assistant Professor at Van Andel Research Institute (VARI) and senior author of the study. "Despite having a reputation as largely unnecessary, the appendix actually plays a major part in our immune systems, in regulating the makeup of our gut bacteria and now, as shown by our work, in Parkinson's disease." The reduced risk for Parkinson's was only apparent when the appendix and the alpha-synuclein contained within it were removed early in life, years before the onset of Parkinson's, suggesting that the appendix may be involved in disease initiation. Removal of the appendix after the disease process starts, however, had no effect on disease progression. In a general population, people who had an appendectomy were 19 percent less likely to develop Parkinson's. This effect was magnified in people who live in rural areas, with appendectomies resulting in a 25 percent reduction in disease risk.

Barn Owls Help Hopkins Scientists Unlock Secret of How Brain Pays Attention; Cover Article Provides “Beautiful Answer” to How Brain Determines Where to Focus

By studying barn owls, scientists at Johns Hopkins University believe they've taken an important step toward solving the long-standing mystery of how the brain chooses what most deserves attention. The finding, which is the subject of the cover article of the October 30, 2018 issue of the journal Cell Reports, likely applies to all animals, including humans, and offers new insight into what goes wrong in the brain with diseases like attention-deficit disorder (ADD). The open-acces article is titled “Combinatorial Neural Inhibition for Stimulation Across Space.” "There are a million things out there in the world bombarding our eyes, our ears, our skin, and other sensory organs. Of all of those things, what particular piece of information do we most need to pay attention to at any instant to drive our behavior?" said co-author Shreesh Mysore, PhD, a Johns Hopkins University neuroscientist. "Our work provides a really beautiful answer to how the brain solves a key component of that problem." Despite studying the forebrain of animals for decades, scientists haven't found a good answer to the question of how the brain decides what to pay attention to. The researchers decided instead to look at the midbrain, an evolutionarily older part of the brain found in everything from fish and mammals to birds and humans. "All animals have a need to pay attention to the thing that might impact our survival, but we don't all have a highly developed forebrain," said Dr. Mysore, who is also an Assistant Professor of Psychological and Brain Sciences.

Syndicate content