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American Society of Human Genetics Honors Peter Byers, MD, with the 2020 Victor A. McKusick Leadership Award at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Peter H. Byers, MD, as the 2020 recipient of the Victor A. McKusick Leadership Award ( Dr. Byers is a Professor in the Department of Pathology and Department of Medicine (Division of Medical Genetics) at the University of Washington School of Medicine in Seattle, where he has spent his entire academic career (fellow in Medical Genetics and then a member of the faculty since 1977). This award, which includes a plaque with a $10,000 prize, is named in honor of the late Victor A. McKusick, MD, the so-called “Father of Medical Genetics,” and is bestowed upon an individual who has exhibited exemplary leadership and vision in advancing the ASHG mission through the promotion and successful assimilation of genetics and genomics knowledge into the broader scientific community in areas ranging from science, medicine, public policy, and/or health. “The Society recognizes the importance of Dr. Peter Byers’ creative research on the molecular pathogenesis of inherited disorders of connective tissue and its illumination of potential paths forward for understanding and treating disorders that affect collagen genes and the enzymes involved in the post-translational modification of collagens,” said ASHG President Anthony Wynshaw-Boris, MD, PhD., Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “In addition, we recognize Dr. Byers’s leadership in nearly all facets of the American Society of Human Genetics, including as Editor of The American Journal of Human Genetics and as President of our Society.

American Society of Human Genetics Honors Mary-Claire King, PhD, with the 2020 William Allan Award, the Society’s Top Award, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Mary-Claire King (photo), PhD, American Cancer Society Professor of Medicine and Genome Sciences at the University of Washington, as the 2020 recipient of the annual William Allan Award (, the top annual prize awarded by the ASHG. The William Allan Award, which carries a $25,000 prize, recognizes substantial and far-reaching scientific contributions to human genetics, and 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. “In recognizing the most outstanding science in human genetics and genomics, it is a great honor to present Dr. Mary Claire King with the 2020 William Allan Award,” said ASHG President Anthony Wynshaw-Boris, MD, PhD, Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “She has made seminal contributions to her field, provided groundbreaking insight into the existence of the gene she named BRCA1, and changed our understanding of cancer prevention and treatment.” This award, and many other ASHG 2020 annual awards, were originally announced in July 2020, and pre-recorded awardee acceptance remarks are available as part of the ASHG 2020 Virtual Annual Meeting (October 27-30) ( Access to the ASHG annual award remarks is included as part of the registration fee for the ASHG 2020 Virtual Meeting (

Mayo Scientists Lead International Effort to Develop Assay for Aggregated Protein in Blood & CSF of Patients with Rare Neurodegenerative Disorder Machado-Joseph Disease; Assay May Be Used in Diagnosis, Prognosis, & Monitoring of Experimental Treatments

Mayo Clinic researchers in Jacksonville, Florida, along with national and global collaborators, have developed a potential test for Machado-Joseph disease (, or spinocerebellar ataxia type 3 (SCA3), an autosomal dominantly inherited genetic disease that has no cure. The researchers have also clarified the role of a gene target associated with the disease. The disease is linked to an inherited mutation in the ataxia 3 gene (ATXN3 gene) that causes a CAG triplet nucleotide repeat expansion in the gene [Editor’s Note: This results in the mutant ATXN3 protein having an abnormal run of the amino acid glutamine (represented in the one-letter code for amino acids as Q) which is coded for by the CAG nucleotide triplet; this run is called “polyQ.”] . The negative results of this mutation, which affects the central nervous system, generally appear between the ages of 40 and 70, and are characterized by an unsteady gait, loss of muscle control, and decline of motor and sensory nerves. Symptoms may resemble those of Parkinson's disease or multiple sclerosis. The research was published online on October 21, 2020 in Science Translational Medicine. The article is titled “Toward Allele-Specific Targeting Therapy and Pharmacodynamic Marker for Spinocerebellar Ataxia Type 3.” In the retrospective study, the researchers set out to find a molecular target to help assess potential treatments for SCA3 and the group of neurodegenerative diseases in which it's categorized. Guiding the researchers in this effort was previous work at Mayo Clinic on Lou Gehrig's disease--also known as amyotrophic lateral sclerosis (ALS)--as well as on frontotemporal dementia with mutations in the C9orf72 gene. SCA3 is defined by the characteristic accumulation of a mutant protein: polyQ ataxin-3.

ASHG 2020 Virtual Annual Meeting to Showcase Innovative Research in Human Genetics (October 27-30)

The American Society of Human Genetics (ASHG) 2020 Virtual Annual Meeting taking place October 27-30 will showcase global advances in human genetics and genomics research that are transforming the scientific landscape and leading to new advances in the treatment of devastating diseases. The ASHG 2020 Virtual Meeting ( will feature more than 200 oral presentations, nearly 2,000 scientific poster presentations, 80+ exhibit booths, networking and professional development opportunities, and more, making it the digital epicenter of human genetics. As always, it will be among the world’s largest events for genetic and genomic discovery, with thousands of scientists, clinicians, advocates, and others participating from more than 50 countries. “As a global showcase of the latest developments in human genetics, the ASHG 2020 Virtual Meeting will provide an online venue for researchers who conduct human genetics and genomics research around the world to exchange scientific knowledge,” said Anthony Wynshaw-Boris, MD, PhD, ASHG President. “I am excited about the fantastic talks, posters, and special sessions, that will be presented at the Virtual Meeting.” The meeting will host chat sessions throughout the program to continue scientific conversations and exchanges around the latest scientific updates and breakthroughs. The Society will also recognize the outstanding scientific achievements of its members in the human genetics and genomics community with special awards and lectures throughout the meeting. Not only will the ASHG 2020 Virtual Meeting host exceptional plenaries, but also concurrent programming sessions covering critical areas of the field.

NIH Funds Core Center for Childhood Cystic Kidney Disease at University of Alabama at Birmingham (UAB)

On October 12, 2020, it was announced that The University of Alabama at Birmingham, in collaboration with Children’s National Hospital in Washington, DC, has received a 5-year, $4 million grant from the National Institute of Diabetes and Digestive and Kidney Diseases, part of the National Institutes of Health, to create a core center for childhood cystic kidney disease (CCKDCC). The UAB-CCKDCC will conduct and facilitate research into the causes of and possible treatments for cystic kidney diseases, particularly those that present in childhood. Polycystic kidney disease is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. PKD cysts can reduce kidney function, leading to kidney failure. People with PKD can also have cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain. The UAB/Children’s National grant is a U54 center grant, an NIH funding mechanism to develop a multidisciplinary attack on a specific disease entity or biomedical problem area. With this grant, UAB joins with investigators at the University of Kansas and the University of Maryland-Baltimore as part of the NIH Polycystic Kidney Disease Research Resource Consortium. The NIH describes the consortium as a framework for effective collaboration to develop and share research resources, core services, and expertise to support innovation in research related to polycystic kidney disease. “The intent is to accelerate the science and advance research into new therapies for cystic kidney disease through enhanced sharing of resources and the establishment of a robust research community,” said Bradley K. Yoder, PhD, Professor and Chair of the UAB Department of Cell, Developmental and Integrative Biology ( and Co-Director of the UAB-CCKDCC.

UCLA-Led Team Reports Results of Compassionate Use Treatment of 23 Severe/Critical COVID-19 Patients with CytoDyn’s Leronlimab; Possible Benefit of Leronlimab Suggested

Physicians from UCLA, together with collaborators, have reported tantalizingly positive anecdotal results from the compassionate use of the humanized monoclonal antibody lerorimab made by CytoDyn in the treatment of COVID-19 in 23 severely/critically ill patients. The results were reported online on October 20, 2020 in Clinical Infectious Diseases ( The open-access article is titled “Clinical Characteristics and Outcomes of COVID-19 Patients Receiving Compassionate Use Leronlimab.” The research team, led by Otto Yang, MD, in UCLA’s Department of Medicine, followed 23 hospitalized severe/critical COVID-19 patients who received 700 mg leronlimab subcutaneously, repeated after seven days in 17/23 patients still hospitalized. 18/23 also received other experimental treatments, including convalescent plasma, hydroxychloroquine, steroids, and/or tocilizumab. 5/23 received leronlimab after blinded placebo-controlled trials of remdesivir, sarilumab, selinexor, or tocilizumab. Outcomes and results were extracted from medical records. The mean age of the 23 patients was 69.5±14.9 years. 20/23 had significant co-morbidities. At baseline, 22/23 were receiving supplemental oxygen (3/23 high flow, 7/23 mechanical ventilation). Blood showed markedly elevated inflammatory markers (ferritin, D-dimer, C-reactive protein) and elevated neutrophil:lymphocyte ratio. By day 30 after initial dosing, 17/23 were recovered, 2/23 were still hospitalized, and 4/23 had died. Of the 7 intubated at baseline, 4/7 were fully recovered off oxygen, 2/7 were still hospitalized, and 1/7 had died. Based on this data, the researchers concluded that lerolimab appeared safe and well tolerated.

IncellDx to Collaborate in Phase 2 COVID-19 Clinical Trial of Pfizer’s Maraviroc, a CCR5 Antagonist

On October 20, 2020, IncellDx announced that it will collaborate on the SARS-CoV2 Clinical Trial NCT04435522 involving Pfizer's FDA-approved CCR5 antagonist Maraviroc ( The trial "Open-Label Study of Maraviroc in Hospitalized Individuals Diagnosed with SARS-CoV-2" seeks to establish whether a one-week treatment with Maraviroc, used at its approved dosage for HIV, is safe and tolerable in patients with SARS-CoV-2. Maraviroc, an oral medication, will be administered for seven days. Blood will be collected at Day 0, 3, 7, and 14. IncellDx is performing a Maraviroc-specific CCR5 Receptor Occupancy assay, their IncellKINE RUO Cytokine Storm quantification panel, immune profiling with T-cell exhaustion and macrophage polarization, as well as SARS-CoV-2 plasma viral load (pVL) . Bruce Patterson MD, CEO of IncellDx, commented that "Since the beginning of the COVID-19 pandemic, IncellDx has led the way in defining the role of CCR5 antagonism in diagnosis and treatment of COVID-19. We are excited to collaborate in the study of Maraviroc's potential as a therapeutic for COVID-19. In our studies, we have shown that CCR5 antagonism can restore immune homeostasis, quiet the cytokine storm, and reduce plasma viral load of SARS-CoV-2 RNA." IncellDx, Inc., located in San Carlos, California, is a single-cell, molecular diagnostics company dedicated to revolutionizing healthcare, one cell at a time. By combining molecular diagnostics with high-throughput cellular analysis, the company's focus is on critical life-threatening diseases in the areas of COVID-19, infectious disease and oncology/immuno-oncology, i.e., cervical, head and neck, lung, bladder, breast, and prostate cancers.

Cannabadiol (CBD) Helps Reduce Lung Damage from COVID “Cytokine Storm” by Increasing Levels of Protective Anti-Inflammatory Peptide (Apelin)

One way cannabidiol (CBD) appears to reduce the "cytokine storm" that damages the lungs and kills many patients with COVID-19 is by enabling an increase in levels of a natural peptide called apelin, which is known to reduce inflammation and whose levels are dramatically reduced in the face of this storm. [Editor’s Note: Cannabidiol (CBD) is an active ingredient in cannabis derived from the hemp plant.] This summer, Dental College of Georgia (DCG) and Medical College of Georgia (MCG) researchers reported CBD's ability to improve oxygen levels and reduce inflammation as well as physical lung damage in their laboratory model of deadly adult respiratory distress syndrome (ARDS). Now, these scientists have shown that apelin levels go way down with the viral infection, which has killed 1 million people worldwide, and that CBD quickly helps normalize those levels along with lung function. "It was dramatic in both directions," says Dr. Babak Baban (left in photo), DCG Immunologist and Associate Dean for Research, of shifting apelin levels in both circulating blood and lung tissue. Blood levels of the peptide dropped close to zero in their ARDS model and increased 20 times with CBD, they report in an article published online on October 15, 2020 in the Journal of Cellular and Molecular Medicine. The open-access article is titled “Cannabidiol (CBD) Modulation of Apelin in Acute Respiratory Distress Syndrome.” "CBD almost brought it back to a normal level," said Dr. Jack Yu (right in photo), physician-scientist and Chief of Pediatric Plastic Surgery at MCG, commenting on the apparent first connection between CBD and apelin. Apelin is a pervasive peptide made by cells in the heart, lung, brain, fat tissue, and blood, and is an important regulator in bringing both blood pressure and inflammation down, says Dr. Baban, the study's corresponding author.

Older, Male Patients Who Had More Severe COVID-19 May Be Best Donors for Convalescent Plasma Therapy

Sex, age, and severity of disease may be useful in identifying COVID-19 survivors who are likely to have high levels of antibodies that can protect against the disease, according to a new study co-led by researchers at the Johns Hopkins Bloomberg School of Public Health. The findings suggest that older males who have recovered from COVID-19 after having been hospitalized are strong candidates for donating plasma for treating COVID-19 patients. Doctors have been using infusions of plasma--the part of blood that contains antibodies--from recovered COVID-19 patients to treat COVID-19 patients and also as a possible prophylaxis to prevent COVID-19. Doctors have used convalescent plasma to treat patients or immunize persons at high risk of virus exposure during outbreaks of measles, mumps, polio, Ebola, and even the 1918 pandemic flu. Clinical trials of convalescent plasma treatment against COVID-19 are ongoing, and doctors until now haven't had guidance for selecting COVID-19 survivors who are likeliest to have strong antibody responses. "We propose that sex, age, and severity of disease should be used to guide the selection of donors for convalescent plasma transfer studies because we found that these were significant patient characteristics that not only predicted the amount of antibody but the quality of that antibody," says study lead author Sabra Klein, PhD, Professor in the Bloomberg School's Department of Molecular Microbiology and Immunology.

Natural Killer (NK) Cells Also Have a Memory Function; Study Shows One Third of NK Cells in Liver Have Antigen Specificity; These Antigen-Specific NK Cells Also Exhibit Unique Gene Expression Profile

Researchers from MedUni Vienna's Departments of Dermatology and Surgery in Austria have managed to ascribe an immunological memory function to a subset of cytotoxic natural killer (NK) cells, which have hitherto been regarded as antigen-non-specific. The researchers found, under the leadership of Georg Stary, MD, PhD, who is also Co-Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and affiliated with the CeMM (Research Center for Molecular Medicine of the Austrian Academy of Sciences), that approximately one third of all human liver NK cells can remember viruses and therefore respond specifically to them. These cells are therefore an interesting target for prophylactic use in the human immune system in the fight against infections and viruses. NK cells are natural cytotoxic killer cells in human blood and are a type of lymphocyte, a subgroup of white blood cells or leukocytes. They are able to identify and kill abnormal cells such as tumor cells or virally infected cells (apoptosis). Up until now, NK cells have been regarded as having no memory function, meaning that they are unable to kill on an "antigen-specific" basis but are only able to react afresh each time to viruses and sources of infection in a non-specific way. In the new study, published online on October 2, 2020 in Science Immunology, the MedUni Vienna scientists reported that that there is a subset of NK cells in the liver--the organ which is generally regarded as a large reservoir for NK cells--that is able to fight infections such as hepatitis A and B and to remember them. This subset also exhibits a unique gene expression profile that is different from that of other NK cell groups. The Science Immunology article is titled “A Discrete Subset of Epigenetically Primed Human NK Cells Mediates Antigen-Specific Immune Responses.”

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