Myositis is an autoimmune disease that involves chronic inflammation of the muscles, and it can affect almost every system in the body. The Yale Myositis Program takes a comprehensive, multidisciplinary approach to caring for people with this complex condition. Leaders of the Myositis Program hope to establish it as a center of excellence. In addition to treating patients, eventually, the team would like to work with basic researchers and perform clinical trials to understand the pathogenesis of the disease. Another goal is to educate colleagues and primary care physicians about the condition to improve awareness about myositis and hopefully get patients diagnosed earlier in the disease process. The Myositis Program, which opened in October 2022, is one of a few specialized myositis centers in the country, offering a team of dedicated specialists from diverse areas such as neurology, pulmonology, dermatology, pathology, and genetics to provide comprehensive patient care. Myositis is an umbrella term for various conditions (including polymyositis, dermatomyositis, and necrotizing myopathy, among others) that can affect the limbs, skin, and other organs. Complications of the disease can include a debilitating loss of strength, functionality, and mobility; it can be life-threatening when it affects the lungs and heart. Every patient is unique and can have different symptoms, which can change over time. For example, someone can have a skin rash without the muscle component, or they can have muscle weakness and lung inflammation without the skin rash. It can become complicated because patients may not be experiencing all three symptoms simultaneously when they see their doctor, and the treatment typically targets the organ flaring at that particular moment. The good news is that there has been great progress in understanding of the condition, thanks to the development of technologies that allow for early diagnosis and more tailored treatment. The program’s directors are two rheumatologists interested in myositis— assistant professors of clinical medicine Harjinder Chowdhary, MBBS, MD , and Oana Zaha, MD. The idea for a program focusing specifically on myositis came from the chief of Rheumatology, Allergy & Immunology Richard Bucala, MD, PhD, Waldemar Von Zedtwitz Professor of Medicine (Rheumatology) and professor of pathology and epidemiology (microbial diseases); and Vaidehi Chowdhary, MBBS, MD , associate professor of medicine (Rheumatology, Allergy & Immunology) and clinical chief, Rheumatology, Allergy & Immunology.

The Prenatal Genetic Diagnostic Program provides expert genetic screening, testing, and counseling for parents. Our tests and services includefirst-trimester screening, chorionic villus sampling (CVS), amniocentesis, fetal blood sampling (FBS), and many others. After diagnosis, we provide counseling and connect patients to appropriate support networks to help parents adjust to and prepare for their child's special needs. In addition to pioneering the development of CVS and FBS, Yale has the most experienced team for these procedures in New England. Between 11 and 12 weeks after a woman's last menstrual period, she can instantly learn the baby's risk for Down syndrome and other abnormalities with our safe, noninvasive first-trimester risk assessment. Our team of specially-certified physicians, sonographers, and genetic counselors will provide patients with accurate information as quickly as technology allows. The procedure is simple: Patients provide a blood sample at least one week before their scheduled appointment, then visit us between weeks 11 and 14 of their pregnancy. Our comprehensive prenatal testing and genetic counseling services include: First and second trimester screenings Targeted ultrasound (formerly known as Level II ultrasound). We are equipped to perform targeted vaginal ultrasounds at an early gestational age, and provide diagnostic information early in a woman's pregnancy. Antenatal testing services. These services include nonstress testing, biophysical profiles, fetal versions, and PG gel insertions to help ensure fetal well-being throughout pregnancy. Fetal echocardiography. The Yale Fetal Cardiovascular Center is the most experienced diagnostic and treatment program of its kind in New England and provides the full range of prenatal surgical care. Prenatal ultrasound testing is typically performed during the second trimester to diagnose cardiac conditions in an unborn baby. Chorionic villus sampling (CVS). This is usually performed between the 10th and 12th weeks of pregnancy and involves the removal of a small sample of the placenta from the uterus. Amniocentesis. This is usually performed during the 15thweek of pregnancy or later, the procedure removes a sample of amniotic fluid from the uterus for evaluation. Fetal blood sampling. Fetal bloodis collected directly from the umbilical cord orfetus to test for signs of anemia and otherblooddisorders. Fetal tissue biopsy. This is typically performed between the 17thand 20thweeks of pregnancy, for patients who carry an abnormal gene for a severe skin disease to find out whether or not their fetus is similarly affected. Fetal karyotyping. This involving the collection of chorionic villi, amniotic fluid, or fetalblood to obtain and analyze chromosomes for abnormalities. Biochemical testing Fluorescence in situ hybridization (FISH) analysis. This involves laboratory testing to detect chromosomal abnormalities and other genetic mutations in a patient

Clinical Genetics at Yale School of Medicine has a long and distinguished history of advancing the understanding of inherited disorders and providing outstanding care to patients and families with a genetic disorder or suspected of having such a disorder. Informed by transformative basic and translational research, highly trained Yale genetics physicians and support staff provide comprehensive diagnostic evaluations, genetic counseling, and care for children and adults affected by a wide variety of rare and complex inherited and congenital conditions. The full spectrum of state-of-the-art genetics laboratory services, including molecular and cytogenetic diagnostic laboratories, are housed within the Department. Comprehensive and compassionate clinical care of the highest quality is provided by a team of highly experienced physicians who specialize in medical genetics, genetic counselors, nurse practitioners, nutritionists, and laboratory geneticists who value collaboration and respect for individuals and families. Recognizing its stature in the field, the Department has been designated a Center of Excellence for rare diseases by the National Organization of Rare Disorders. It is committed to improving access to and care for patients with rare disorders. Appointments for a genetic evaluation can be scheduled by calling (203) 785-2660 . Your health care provider must make a referral for genetics evaluation via the EPIC electronic medical record, and our schedulers will contact you to schedule an appointment. The mission of Clinical Genetics is: To provide outstanding and compassionate clinical care to patients by applying the most recent diagnostic and therapeutic advances based on cutting-edge basic and translational genetic/genomic research To provide outstanding training for clinical and laboratory geneticists, empowering them to become leaders in the seamless integration of genetics and genomics across the entire field of medicine. To advance the field of genetics and genomics medicine through the innovative research programs housed in our department and university. Patient care General Genetics Clinic for Children and Adults. We provide comprehensive diagnostic evaluations, follow-up, and management for children and adults with a large variety of medical problems, including: Birth defects Chromosomal abnormalities Abnormal results of newborn screening Inborn errors of metabolism Intellectual disability Autistic spectrum disorder Developmental delay Neurocutaneous disorders Childhood and adult genetic syndromes Hereditary cancer syndromes (link to cancer counseling ) Individuals suspected to have a genetic disorder Note: We care for patients and families with many other genetic disorders. Please contact us at (203) 785-2660 if you have questions about whether a patient should be referred for genetic consultation. Specialty clinics Down Syndrome Program Craniofacial Program Neurofibromatosis Program We provide dia