With many rare diseases there is often an underlying genetic cause. There is a whole field dedicated to helping patients and families navigate and investigate potential genetic causes of disease; it is called genetic counseling. This page serves as introduction to this field, the medical professionals who provide genetic counseling services, and genetic disease itself. If at the end you find yourself interested in joining the field, we've included some information on how to become a genetic counselor. Who are genetic counselors? A genetic counselor is a master’s level medical professional who specializes in medical genetics and psychosocial counseling. They evaluate families’ risks for inherited medical conditions and help these families to understand the implications of those risks. Individuals who are referred for genetic counseling include those who are affected with a genetic condition, suspected of being affected, family members of affected individuals, and pregnant women with a positive family history. Abstract source

Introduction: Sickle cell disease (SCD) is an inherited autosomal recessive disorder. In the United States, most individuals with SCD are African Americans, with an incidence of 1 in 400 to 1 in 500 live births. SCD is a lifelong disorder with no known cure. Background: SCD causes anemia, frequent painful episodes, and reduced life expectancy. The most disturbing clinical problem associated with SCD is severe pain episodes, the most common reason for hospitalization. Pharmacological interventions have been the mainstream for treatment; however, psychological interventions such as cognitive behavioral therapy (CBT) may complement current medical treatment, leading to better coping and overall improved quality of life. Methods: In a quasi-experimental one-group pretest–posttest study, 9 African American individuals with SCD completed 3 weekly educational sessions learning CBT methods. Results: Participants demonstrated increased frequency of use of CBT methods post intervention, including diverting attention, coping self-statements, and behavioral activities, leading to better pain control. However, quality of life and role limitation did not show significant improvement. Conclusions: CBT shows promise for individuals with chronic conditions such as SCD, but more investigation into its efficacy is needed with larger sample sizes over longer periods of time. Abstract source Full text

Background: This study used Community Partnered Participatory Research (CPPR) to address low participation of racial and ethnic minorities in medical research and the lack of trust between underrepresented communities and researchers. Methods: Using a community and academic partnership in July 2012, residents of a South Los Angeles neighborhood were exposed to research recruitment strategies: referral by word-of-mouth, community agencies, direct marketing, and extant study participants. Results: Among 258 community members exposed to recruitment strategies, 79.8% completed the study. Exposed individuals identifi ed their most important method for learning about the study as referral by study participants (39.8%), community agencies (30.6%), word-of-mouth (17.5%), or direct marketing promotion (12.1%). Study completion rates varied by recruitment method: referral by community agencies (88.7%), referral by participants (80.4%), direct marketing promotion (86.2%), word of mouth (64.3%). Conclusions: Although African American and Latino communities are often described as diffi cult to engage in research, we found high levels of research participation and completion when recruitment strategies emerged from the community itself. This suggests recruitment strategies based on CPPR principles represent an important opportunity for addressing health disparities and our high rates of research completion should provide optimism and a road map for next steps. Abstract source Full text

Patient recruitment into sickle cell disease (SCD) clinical trials has not always been robust, leading to delayed results or even failure to trial completion. Disparities impacting participation in research include race, lower socioeconomic status and lower health literacy. We sought to extend previous research by surveying adults with SCD and parents of children with SCD across geographically diverse regions in the U.S. We hypothesized that demographic variables such as lower income and education would present barriers to interest in research participation, as would psychosocial variables (depression symptoms and lower health literacy). We also evaluated patient/family preferences in use of technology for being contacted about research. We surveyed a convenience sample of adults, and parents of children with SCD, all genotypes. We used the Mid-South Clinical Data Research Network survey to gather socio-demographic information, depression symptoms (Patient Health Questionnaire—PHQ-2) and health literacy (Brief Health Literacy Screening). We assessed participant interest in varying research types and asked if they would want to be contacted for research using electronic communication—e-mail, text messaging, and social media—as well as traditional face-to-face conversations in clinic or phone calls. We examined differences in demographic and psychosocial variables between participants who responded they were interested in each research type versus those that were not (study outcome) using Fisher's exact and Wilcoxon tests, and created logistic regression models for each research type, analyses performed in R version 3.2.2. Abstract source Full text

The human body has no active mechanism for the excretion of iron. During normal physiology, the amount of iron absorbed from the small intestine (1-2 mg/d) is balanced by the iron lost through sloughing of intestinal mucosa and skin, as well as the small amounts excreted in the urine and bile. Day-to-day iron requirements, as iron is needed by virtually all body cells and especially erythrocytes, are met by recycling between various compartments. A unit of transfused blood contains approximately 250 mg of iron. In patients who receive numerous transfusions—notably those with thalassemia major, sickle cell disease, myelodysplastic syndrome, aplastic anemia, hemolytic anemia, and refractory sideroblastic anemias, who may become transfusion dependent—the excess iron from the transfused erythrocytes gradually accumulates in various tissues, causing morbidity and mortality. Iron chelation therapy is used to prevent the accumulation of iron to harmful levels. Liver and cardiac transplantation should be considered for appropriate patients with end-stage disease. Abstract source

Sandeep Soni, MD, is the Executive Director at CRISPR Therapeutics, Inc. His expertise includes bone marrow transplantation (HSCT), cellular therapies and gene therapy for malignant and non-malignant blood disorders and clinical development of programs. He is also an expert of lentiviral vectors, Crispr- Cas9 gene editing, stem cell transplant, T-cell therapies and regulatory/safety aspects of gene-therapies. Areas of Interest- - Cellular Therapy - Gene Therapy - Stem Cell Transplant - Sickle Cell Disease - Thalassemia - Reduced Intensity Conditioning Clinical Focus- - Hematology/Oncology - Stem Cell Transplant and Gene Therapy Online profile

We are devastated to learn of the death of Dr. Kwaku Ohene-Frempong on Saturday, May 7, 2022. Dr. Ohene-Frempong was a true leader in the sickle cell community and dedicated his life and career to working with SCD. He held many roles on the Sickle Cell Disease Association of America board of directors over the years, including a chief medical officer, board chair, and board member emeritus. He also sat on the SCDAA Medical and Research Advisory Committee. His presence will be sorely missed in our organization and in the community at large. Dr. Ohene-Frempong was born in Ghana, and his record of excellence as a student-athlete earned him a scholarship to Yale to study pre-med and later, a trip to the Olympics representing Ghana in track and field. He received his medical degree from the Yale School of Medicine in 1975.  In the United States and all over the world, Dr. Ohene-Frempong was a leading pediatric sickle cell physician. He was director emeritus of the Comprehensive Sickle Cell Center at The Children’s Hospital of Philadelphia, emeritus professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and president of the Sickle Cell Foundation of Ghana.   Dr. Kwaku Ohene-Frempong’s Obituary: In Memory of Dr. Kwaku Ohene-Frempong  

Miralda Charles is a personable, motivating and dedicated program coordinator/health educator with over 5 years of broad-based experience on navigating patients through the complex healthcare system. She has an experience in planning, organizing, and facilitating educational workshops/support groups and evaluating patient performance. As the program coordinator for the Sickle Cell Disease program, Miralda oversee patient navigation through the health care system as an effort to decrease barriers to care. She conducts extensive data collection for federal grant funding and prepares reports necessary to program continuity and reporting. She is responsible for event planning, budget management, program implementation, internal and external operational liaison, program marketing, database management and reporting. Online profile

Alice Cohen, MD, FACP, is the director of the Frederick B. Cohen Comprehensive Cancer & Blood Disorders Center. She is also the director of the Comprehensive Hemophilia and Thrombosis Center, as well as section chief of Breast Cancer Services. She is an investigator with NSABP, ECOG and the Moffitt Clinical Trials Group. She is the principal investigator of the Craft Program, funded by Susan G. Komen for the cure and a grant from the Avon foundation for outreach and treatment of women with breast cancer. Her breast team is aided by a dedicated breast cancer social worker and a breast cancer advanced practice nurse. Dr. Cohen is a graduate of Bryn Mawr College and The Chicago Medical School. She completed her internal medicine training at NYU and fellowship in hematology and oncology at the George Washington University and Columbia University Medical Center. She is an Associate Clinical Professor of medicine at Columbia University, College of Physicians and Surgeons and board certified in internal medicine, hematology and oncology. She is the director of the Comprehensive hemophilia treatment center, and program director for the hematology/oncology fellowship training program. Online profile

Dr. James Casella is a professor of pediatrics and oncology at the Johns Hopkins University School of Medicine. As the Johns Hopkins’ Rainey Professor of Pediatric Hematology, Dr. Casella is chief of the Division of Pediatric Hematology at Johns Hopkins Children's and director of the Basic and Translational Research Program in Sickle Cell Disease, Comprehensive Sickle Cell Center and the Maryland Hemophilia Treatment Center at Johns Hopkins. He supervises several labs investigating the cellular and molecular basis of pediatric blood-borne diseases. He is seeking to develop better treatments for sickle cell disease and the prevention of central nervous system complications of this disorder, including stroke. A research scientist as well as a clinician, he co-directs the hematology/oncology fellowship program at Johns Hopkins Hospital and is an adjunct senior investigator (Pediatric Oncology Branch) in the Division of Clinical Sciences, National Cancer Institute, National Institutes of Health. He is also director of the NHLBI-funded K12 in benign hematology program at Johns Hopkins that trains young clinician/investigators in benign hematology and transfusion medicine. Online profile