PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Nara Sobreira, MD, PhD is the recipient of the 2023 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine

2023-03-15
(Press-News.org) Nara Lygia de Macena Sobreira, MD, PhD is the recipient of the ACMG Foundation for Genetic and Genomic Medicine’s 2023 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award—the “Watson Award”—named for the American College of Medical Genetics and Genomics first and longstanding executive director, Michael S. Watson, MS, PhD, FACMG.

“I am honored and grateful for receiving the 2023 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award. Since the beginning of my medical genetics residency in Brazil, I have been blessed to work with amazing mentors and colleagues in innovative projects that benefited many patients around the world. It has been a privilege to study and practice genetics in the last 20 years and witness and benefit from the rapid development of genomics. I hope that genetics and genomics continue to become more accessible to students, clinicians, researchers and patients around the world and that my work in clinic and research can help with that process,” said Dr. Sobreira, MD, PhD.

 

“Dr. Sobreira was the chief architect of GeneMatcher, a system with which anyone involved in genome sequencing for diagnosis of rare diseases will be familiar. It has been a game-changer in rare disease diagnosis that has helped clinicians, scientists, and patients around the world,” said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation. 

 

Dr. Sobreira is currently Associate Professor in the Departments of Genetic Medicine and Pediatrics at Johns Hopkins University. Dr. Sobreira was the chief analyst for the Baylor-Hopkins Center for Mendelian Genomics and was instrumental in the development of tools that have transformed clinical and research genetics. She developed the analysis module of PhenoDB, a tool for the collection, storage and analysis of phenotypic and genotypic information geared to the identification of novel disease genes. PhenoDB is the platform used for analysis by the BHCMG but has also been downloaded and installed in many academic and clinical centers to be used for genome analysis. It is also used in the Gabriella Miller Kids First Initiative.

Dr. Sobreira graduated from the University of Pernambuco School of Medicine, then completed a Clinical Genetics Residency at Paulista School of Medicine (UNIFESP). In 2007, she started her PhD in Human Genetics followed by a one-year postdoc and a two-year Clinical Genetics Fellowship at Johns Hopkins School of Medicine. Dr. Sobreira and colleagues recognized that many excellent candidate genes were only present in one family, they then developed GeneMatcher, the most widely used resource to facilitate case matching in rare disease. Dr. Sobreira next developed VariantMatcher, a tool for investigating genotype-phenotype relationships in large cohorts of patients with rare diseases. Dr. Sobreira’s efforts are currently focused on developing a federated one-sided matching system to expand the reach beyond VariantMatcher. This is a coordinated effort with the Global Alliance for Genomics and Health.

 

Dr. Sobreira is also passionate about educating and spreading the utility of genome sequencing across health care and the world. In addition to developing tools that facilitate genome analysis and discovery, Dr. Sobreira has developed both in-person and virtual educational programs that teach genome analysis using PhenoDB. These courses are taught at Johns Hopkins through a week-long intensive course open to third- and fourth-year medical students, as well as a required rotation for genetics residents and fellows. She also teaches this to students at UNIFESP-Brazil and at the McKusick Short Course in Human and Mammalian Genetics and Genomics taught at the Jackson Laboratory in Bar Harbor, Maine every year. She is Board Certified by the Brazilian Board of Medical Genetics, the American Board of Medical Genetics and Genomics. She is also a member of the American Society of Human Genetics. She has taught genomic medicine courses to students around the world.

Dr. Sobreira has contributed to 102 peer-reviewed publications, 18 as first or last author. She is particularly interested in Ollier disease and Maffucci syndrome and serves on the medical advisory board of the patient organization. She is performing clinical studies and translational research to understand the pathogenesis and potential treatments for these rare disorders.

“Dr. Sobreira has demonstrated remarkable creativity in advancing medical genomics through innovations in informatic tools over a span of many years. Her work in leading the development of the GeneMatcher tool has been instrumental in fostering collaborations between investigators around the world toward the identification of countless genes that are causal to numerous genetic disorders, and which has borne tremendous fruit in the lives of the families and communities we serve,” said Robert Best, PhD, MS, FACMG, interim CEO of the ACMG. “

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to “translate genes into health.” Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics, and sponsors important research. To learn more and support the ACMG Foundation mission to create “Better Health through Genetics” visit www.acmgfoundation.org.               

Note to editors: To arrange interviews with experts in medical genetics, contact ACMG Senior Director of Communications and Public Relations, Kathy Moran, MBA at kmoran@acmg.net.


                                                                  -end-

END


ELSE PRESS RELEASES FROM THIS DATE:

Hearing aids donated to Ukrainian refugees in response to article published in The Hearing Journal

2023-03-15
March 15, 2023 – In response to an article published in the February issue of The Hearing Journal, the audiology and hearing solutions company ReSound donated nearly 120 rechargeable hearing aids to address the hearing health care crisis among Ukrainian refugees in Poland. The Hearing Journal is published in the Lippincott portfolio by Wolters Kluwer. The hearing aids were given to the Heart of Hearing team, which is led by King Chung, PhD, CCC-A, professor of audiology at Northern Illinois University in DeKalb, IL and the director of the audiology ...

Comparison with Canada highlights poor access to US methadone treatment

2023-03-15
SPOKANE, Wash.—People living in the United States must travel significantly farther to access methadone treatment for opioid addiction than Canadians, suggests a new study led by Washington State University researchers. Published in the journal Drug and Alcohol Dependence, the researchers’ analysis showed that the average driving distance to the closest methadone clinic accepting new patients was more than three times greater in the U.S. compared to Canada. When limiting their analysis to clinics that could provide treatment within 48 hours the difference was even larger, with those in the U.S. having to travel more than five times farther than their ...

The war on sugar: How can soda manufacturers reduce sugar in products without endangering sales?

2023-03-15
Researchers from University of North Carolina at Chapel Hill and University of Amsterdam published a new Journal of Marketing study that examines how sugar reduction strategies affect new product sales. The study, forthcoming in the Journal of Marketing, is titled “A War on Sugar? Effects of Reduced Sugar Content and Package Size in The Soda Category” and is authored by Kristopher O. Keller and Jonne Y. Guyt. The United States has a sugar problem. Excessive ...

Alexander M. Holtz, MD, PhD receives the 2023 Richard King Award for Best Publication by a Trainee in Genetics in Medicine

2023-03-15
Alexander M. Holtz, MD, PhD is the recipient of the 2023 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage American Board of Medical Genetics and Genomics (ABMGG), international equivalents, or genetic counseling trainees in their careers and to foster the publication of the highest quality research in Genetics in Medicine (GIM), an official journal of the ACMG. Each year the editorial board reviews all articles published in GIM by eligible trainees ...

Sarah Jurgensmeyer, MS, CGC receives the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award

2023-03-15
Sarah Jurgensmeyer, MS, CGC is the recipient of the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Ms. Jurgensmeyer received the Lovell award for her platform presentation at the 2023 ACMG Annual Clinical Genetics Meeting, “Genetic Counselor-Led Exome Sequencing Clinic Pilot Program to Increase Access to Pediatric Genetic Services.” ACMG Foundation President Bruce R. Korf, MD, PhD, FACMG said, “Congratulations to Sarah Jurgensmeyer, recipient of this year’s ACMG ...

ATS 2023 Conference Program is live! Register now

2023-03-15
WHAT:                ATS 2023 Conference Program is Live! Register Now WHO:                  Scientific Sessions in Pulmonary, Critical Care and Sleep Medicine WHERE:              Walter E. Washington Convention Center, Washington, DC WHEN:                May 21-24*   The ATS 2023 International Conference Program is now live! Get ready for a series of dynamic scientific ...

New study from Japan shows SARS-CoV-2 Omicron XBB.1.5 variant is highly transmissible and infectious

New study from Japan shows SARS-CoV-2 Omicron XBB.1.5 variant is highly transmissible and infectious
2023-03-15
COVID-19 has caused significant global panic after its rapid emergence more than 3 years ago. Although we now have highly effective vaccines against the SARS-CoV-2 virus, which causes COVID-19, scientists continue to study emerging SARS-CoV-2 variants in order to safeguard public health and devise global preventive strategies against emerging variants. A team led by Japanese researchers has recently discovered that the SARS-CoV-2 Omicron XBB.1.5 variant, prevalent in the Western hemisphere, has high transmissibility and infectivity.   Severe acute respiratory ...

Immune cell gives possible explanation for sex differences in pancreatic cancer

2023-03-15
Immunotherapy is an effective form of therapy for different types of cancer. However, for pancreatic cancer, its effect is limited and differs between men and women. Researchers at Karolinska Institutet have now found a possible explanation for this sex difference. The study, which is published in Cancer Research, reveals the presence of an immune cell in women with pancreatic cancer that obstructs the body’s immune response. The results can pave the way for a more sex-specific treatment. “More and more evidence is coming in that male and female hormones affect ...

Tax policy may not be enough to combat climate change

2023-03-15
A new paper in The Review of Economic Studies, published by Oxford University Press, indicates that carbon taxes will be less effective at reducing carbon emissions than previously thought. It also finds that tax interventions needed to achieve goals agreed upon in the Paris Climate Agreement of 2016 will need to be larger than previously thought. There is growing interest among researchers and policymakers in using economic policy to reduce or eliminate carbon dioxide emissions. Policy can reduce carbon emissions in several ways, including pushing the economy towards cleaner sources of energy and decreasing overall energy use. The researchers ...

Rapid surge in highly contagious killer fungus poses new threat to amphibians across Africa

2023-03-15
Mass fungus infections that drive populations worldwide to near-collapse don’t just occur in science fiction. Chytridiomycosis, the worst vertebrate disease in recorded history, has already wiped out hundreds of species of amphibians around the world. Due to a large part to this fungal disease, 41% of amphibians are currently threatened with extinction. Only species living in Africa seemed to have been relatively spared from the scourge of chytridiomycosis – at least so far. Now, a study in Frontiers in Conservation Science ...

LAST 30 PRESS RELEASES:

Bioinformatics approach could help optimize soldiers’ training for improved readiness and recovery

Earth scientists describe a new kind of volcanic eruption

Warmer wetter climate predicted to bring societal and ecological impact to the Tibetan Plateau

Feeding infants peanut products protects against allergy into adolescence

Who will like beetle skewers? What Europeans think about alternative protein food

ETRI wins ‘iF Design Award’ for mobile collaborative robot

Combating carbon footprint: novel reactor system converts carbon dioxide into usable fuel

Investigating the origin of circatidal rhythms in freshwater snails

Altering cellular interactions around amyloid plaques may offer novel Alzheimer’s treatment strategies

Brain damage reveals part of the brain necessary for helping others

Surprising properties of elastic turbulence discovered

Study assesses cancer-related care at US hospitals predominantly serving minority populations compared with non-minority serving hospitals

First in-human investigator-initiated clinical trial to launch for refractory prostate cancer patients: Novel alpha therapy targets prostate-specific membrane antigen

Will generative AI change the way universities communicate?

Artificial Intelligence could help cure loneliness, says expert

Echidnapus identified from an ‘Age of Monotremes’

Semaglutide may protect kidney function in individuals with overweight or obesity and cardiovascular disease

New technique detects novel biomarkers for kidney diseases with nephrotic syndrome

Political elites take advantage of anti-partisan protests to disrupt politics

Tiny target discovered on RNA to short-circuit inflammation, UC Santa Cruz researchers find

Charge your laptop in a minute? Supercapacitors can help; new research offers clues

Scientists discover CO2 and CO ices in outskirts of solar system

Theory and experiment combine to shine a new light on proton spin

PKMYT1, a potential ‘Achilles heel’ of treatment resistant ER+ breast cancers with the poorest prognosis

PH-binding motifs as a platform for drug design: Lessons from protease-activated receptors (PARs)

Virginia Tech researcher creates new tool to move tiny bioparticles

On repeat: Biologists observe recurring evolutionary changes, over time, in stick insects

Understanding a broken heart

Genetic cause of rare childhood immune disorders discovered

With wobbling stars, astronomers gauge mass of 126 exoplanets and find 15 new ones

[Press-News.org] Nara Sobreira, MD, PhD is the recipient of the 2023 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine