“One of the greatest pleasures working at Mount Sinai has been my opportunity to join the staff of the Blavatnik Family Women’s Health Research Institute. Working with the team at the Institute has been a rewarding experience. Being able to work with others who share a passion for women’s health, while working on expanding the research opportunities at Mount Sinai and beyond, keeps me engaged and focused on current trends in the women’s health field. The Institute seeks to address women’s health concerns across the lifespan by engaging in research, education, and networking activities that foster a positive community in search of a common goal.”
Read the full article here
RARE DISEASE FORUM
at Hospital for Special Care, 2150 Corbin Avenue, New Britain, CT 06503
Wednesday, December 18, 2019 from 6:00p.m. – 8:00p.m.
If you, a family member, or a friend has a rare disease, please join us for an open discussion about the challenges many families face caring for a loved one and a chance to meet other families dealing with a rare disease.
Health care providers, researchers, and representatives from state agencies, academic centers, industry, and the Connecticut General Assembly (CGA) are also being invited to participate in our discussion about available state resources for rare disease families, and state legislation (or policy changes) needed to improve the lives of those living with a rare disease.
For more information or to RSVP email email@example.com
or visit RareCT.org
HOLIDAY SEASON CELEBRATION & OPEN HOUSE
Saturday, December 7, 2019 from 11:00a.m. – 2:00 p.m.
NORD Headquarters, 55 Kenosia Avenue, Danbury, CT 06810
Connecticut Rare Action Network invites all rare disease patients, caregivers, family members, patient organizations, healthcare professionals and elected officials to celebrate the holiday season and connect with rare disease community members here in Connecticut.
All are welcome. This is a family friendly event. Refreshments will be served.
Introductions & open discussion begins at 12:00p.m.
Please RSVP to Kristen Angell at firstname.lastname@example.org or 203.304.7251
Walk-ins welcome too!
UConn Today recently posted an article about the rise of genetic medicine at UConn and the scientists who are spearheading its growth. The article, posted below, outlines the types of diseases being tackled today.
“Genetic medicine is growing at UConn Health.
On the frontlines are Dr. Jaclyn Beirne and Dr. Joseph Tucker. They are UConn Health’s two dedicated clinical medical geneticists in Department of Genetics and Genome Sciences.
Medical Genetics’ Beirne and Tucker work hand-in-hand with UConn Health’s extended team of 6 genetic counselors who cover the clinical areas of hereditary cancer, maternal fetal medicine, and for the MotherToBaby CT Program.
They accept patient referrals for patients of all ages in need of a genetics evaluation and can help facilitate appropriate genetic testing. They consult with and care for patients at UConn Health’s 11 South Road location for the diagnosis, treatment and management of pediatric or adult genetic disorders.
“Genetics touches every aspect of medicine from prenatal diagnosis to individualized pharmacogenomics and more,” shares Beirne “and our clinical genetics team is readily available to help care for patients across the UConn Health campus and beyond.”
Their Medical Genetics service accepts patient referrals for all types of genetics evaluations. Some of the most common reasons for referral include:
- Birth defects
- Atypical features
- Unusual child development or growth
- Connective tissue disorders
- Developmental delays/Intellectual disability
- Sensorineural hearing loss
- Personal/family history of a genetic condition
- Neurofibromatosis and other neurocutaneous disorders
- Skeletal dysplasias
Beirne and Tucker both completed their advanced specialty fellowship training in clinical medical genetics at UConn School of Medicine which has been home to a medical genetics fellowship for over 10 years.
Tucker currently serves as assistant professor in Genetics and Genome Sciences and Pediatrics. He is a graduate of The University of Pennsylvania and completed his medical degree at SUNY Downstate Medical School, and his residency training at UConn School of Medicine and Connecticut Children’s.
Beirne is assistant professor of Genetics and Genome Sciences and graduated UConn with a bachelor degree in diagnostic genetic sciences. She received her medical degree from St. Georges Medical School and completed her family medicine residency training at St. Joseph’s Hospital and Medical Center.”
Dr. Doudna has made fundamental contributions in biochemistry and genetics and received many prestigious awards and fellowships including the 2000 Alan T. Waterman Award for her research on the structure as determined by X-ray crystallography of a ribozyme, and the 2015 Breakthrough Prize in Life Sciences for CRISPR/Cas9 genome editing technology (with Charpentier). She has been a co-recipient of the Gruber Prize in Genetics (2015), the Canada Gairdner International Award (2016) and the Japan Prize (2017). Outside the scientific community, she has been named one of the Time 100 most influential people in 2015 (with Charpentier) and was listed as a runner-up for Time Person of the Year in 2016 alongside other CRISPR researchers.
This event is free and open to the public (no tickets required).