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At the Pediatric Genomics Discovery Program (PGDP) at Yale, we offer patients and their families with potential undiagnosed genetic diseases an opportunity to be evaluated by a team of physician-researchers specializing in genetics. Roughly one in 30 babies born in the United States each year has a genetic condition. These conditions can range from abnormal limbs, to a permanently weakened heart, to an overly curved spine. In some cases, a medical team might be able to identify, at a cellular level, the exact cause of a condition. In other cases, however, the cause of a child's disease remains unclear even after extensive evaluation and testing. We are embarking on a study to uncover answers to undiagnosed diseases in children and adults by studying their genetics, and are looking for participants. The short video below explains our study. Click here to sign a consent form and to provide other demographic information. [note to tech: add an External link to Kohezion e-consent form and other demographic information.] What is this study about? We want to study undiagnosed genetic diseases because it will help us understand what these conditions are, what might happen to people with these conditions, and what doctors could potentially do to treat them. How will this study help me? We hope to provide some answers for you or your child’s condition, although we can’t know ahead of time if we will find all the answers. Your participation could help others with similar conditions in the future. What do I need to do to get started? Here is how you can participate: Learn more about the study by reviewing the information on this website. Sign up using our online consent process through this link: [LINK to e-consent form]. We will ask you to provide some background information about you, the best way to contact you, and your consent to participate in our study. Provide us with samples from kits that we will ship directly to your home. Our team’s medical experts will then reach out to you to learn your story and gather any additional medical information we might need. Our team will take it from there. What samples do I need to provide? Most of the time, a saliva sample is all we need. If we ask for further samples, these will most likely be additional saliva. However, in rare cases, we may ask for a blood sample. By enrolling in this study, you are giving us permission to ask for, collect, and use additional samples for study purposes. You can change your mind or decline to provide samples at any time—it is completely up to you. What will the research team do? We will use the samples you provide us to perform a state-of-the-art, comprehensive genetic analysis. With that, we may be able to detect previously undiscovered genetic causes of your child’s genetic disease that are not identified by conventional clinical testing. Is my family eligible to participate? To participate in the study, the affected child, Mom, and Dad will each ne

The Smilow Cancer Genetics & Prevention Program is a team of specialists, including physicians, geneticists, genetic counselors, genetics clinical coordinators, and advanced practice providers, who work together to provide cancer genetics education and coordination of genetic testing to inform cancer risk assessment, precision treatment for patients with cancer, and surgical management decisions. Patients seen in the Smilow Cancer Genetics & Prevention Program will typically first meet with a genetic counselor, a genetics clinical coordinator, or have a combined visit with one of our specialty providers and a genetic counselor. Genetic counselors are licensed medical professionals with advanced training in genetics who help patients understand and adapt to the medical, psychological, and familial implications of genetic contributions to diseases such as cancer. Genetics clinical coordinators are key team members who enable expedited evaluation and genetic testing for patients who meet the criteria for genetic testing as part of our novel Fast-Track Program. An initial pre-test visit in the program typically includes the following: Detailed review of a patient’s medical history and their family history of cancer Risk assessment of the chance that the cancer(s) in the family are hereditary Discussion of the risks, benefits, and limitations of genetic testing Coordination of genetic testing and detailed discussion of genetic test results Discussion of appropriate medical management recommendations, implications for family members, and support resources Coordination of cascade testing, which is genetic testing of blood relatives of individuals with genetic pathogenic variants identified Our specific goals include the following: Clinical: Provide patient-centered care and foster collaboration among health care providers Research: Advance the field of cancer genetics, risk prediction and prevention, and related treatment options Education: Provide clinical/didactic experiences for genetic counseling students, medical students, residents, fellows, and other providers Community Outreach: Promote awareness of hereditary cancer risk and provide broad-based education about cancer prevention options Who may benefit from a hereditary cancer genetics evaluation and testing? Someone with: A personal or family history of early-onset cancer (age 50 years or younger) Several family members on the same side of the family with cancer A personal or family history of breast cancer and Jewish ancestry A personal or family history of ovarian, pancreatic, triple-negative breast cancer, or metastatic prostate cancer at any age A personal or family history of multiple colon polyps A personal or family history of multiple cancer diagnoses within the same individual A personal or family history of a rare type of cancer/tumor (breast cancer in a male, medullary thyroid cancer, sebaceous carcinoma, or adenoma) A family history of a known gene pathogenic v

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.

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

The Hematology Program at Smilow Cancer Hospital offers comprehensive diagnosis and treatment of blood cancers: lymphoma, leukemia, and myeloma. While the causes of these cancers remain unknown, great strides in treatment, some of which originated from Yale Cancer Center research, are improving survival rates. The overall aim of treatment is to bring about a complete remission. Treatment approaches for blood cancers may include chemotherapy, radiation oncology, stem cell or marrow transplantation, or immunotherapy. Each patient receives an individual treatment plan, which includes standard care and/or clinical trials, which offer novel treatment options. Yale hematopathologists employ the complete range of diagnostic tools available, including bone marrow examination, bone imaging, M protein analysis, cytogenetics, immunophenotyping, and FISH and PCR analysis, as well as genetic testing and the identification of markers that guide prognosis. Additionally, patients have access to caregivers who help them cope with the physical, emotional, and psychological issues related to these cancers. Advanced practice nurses and social workers assist with education, general information, and practical issues of travel and accommodation assistance. The blood cancers we are fighting: Lymphoma is the most common blood cancer, affecting 81,000 Americans each year. While its rates continue to rise, there have also been rapid advances in treatment, and the current 5-year survival rate for all people diagnosed with Hodgkin lymphoma is 87%. Leukemia is a malignant cancer of the bone marrow and blood, diagnosed in 60,000 Americans each year. It is the most common cancer in children and teens. The leukemia death rate for children ranging from birth to age 14 in the United States has declined 60% over the past three decades, due to treatment advances. Myeloma is a disease of the plasma cell, and affects approximately 34,000 new patients annually. Overall survival in patients with myeloma has shown improvement in recent years, with treatments recently approved by the Food and Drug Administration (FDA). Monoclonal gammopathy of undetermined significance (MGUS) is a precursor condition that could potentially lead to cancer and should be closely evaluated and monitored. Our myeloma specialists are dedicated to the care of these patients and see them as part of a MGUS Clinic. Stem Cell Transplant The Stem Cell Transplant Program at Smilow Cancer Hospital is a FACT accredited program that was started in 1994 and currently performs around 200 transplants yearly. We perform stem cell and bone marrow transplants for a variety of malignant and benign diseases in both pediatric and adult populations. There are two types of stem cell transplantation that we perform: Autologous transplant: involves using a patient’s own stem cells, whichare collected from their blood and frozen. Allogeneic transplant: involves receiving stem cells from another person, called a donor. A search